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| __NOTOC__ | | __NOTOC__ |
| {{Ventricular tachycardia}} | | {{Catecholaminergic polymorphic ventricular tachycardia}} |
| | '''For patient information, click [[Catecholaminergic polymorphic ventricular tachycardia(patient information)|here]].'''<br> |
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| {{CMG}}; {{AE}} {{MRV}} | | {{CMG}}; {{AE}} {{MRV}} |
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| {{SK}} CPVT, bidirectional tachycardia induced by catecholamines, catecholamine-induced polymorphic ventricular tachycardia, familial polymorphic ventricular tachycardia, FPVT | | {{SK}} CPVT, catecholaminergic polymorphic VT, bidirectional ventricular tachycardia induced by catecholamines, bidirectional VT, catecholamine-induced polymorphic ventricular tachycardia, catecholamine induced polymorphic ventricular tachycardia, familial polymorphic ventricular tachycardia, FPVT, polymorphic ventricular tachycardia, polymorphic VT induced by catecholamines. |
| ==Overview==
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| Catecholaminergic Polymorphic Ventricular Tachycardia ([[CPVT]]) is a rare [[inherited]] [[arrhythmogenic]] disorder characterized by [[syncopal attacks]], [[ventricular arrhythmias]], and even [[sudden cardiac death]], mostly in [[young]] patients. It is caused by [[mutations]] in [[calcium]] handling proteins such as [[Ryanodine receptor 2|RyR2]] and [[Calsequestrin|CASQ2]] within the [[sarcoplasmic reticulum]], which results in [[ventricular arrhythmias]] in the setting of a high [[adrenergic]] tone such as during physical exercise or strong emotions. There are no associated structural abnormalities of the [[heart]].
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| ==Historical Perspective== | | ==[[Catecholaminergic polymorphic ventricular tachycardia overview|Overview]]== |
| *Catecholaminergic polymorphic ventricular tachycardia ([[CPVT]]) was first described by [[Reid et al]] in 1975 and by [[Coumel et al]] in 1978.<ref name="ReidTynan1975">{{cite journal|last1=Reid|first1=D S|last2=Tynan|first2=M|last3=Braidwood|first3=L|last4=Fitzgerald|first4=G R|title=Bidirectional tachycardia in a child. A study using His bundle electrography.|journal=Heart|volume=37|issue=3|year=1975|pages=339–344|issn=1355-6037|doi=10.1136/hrt.37.3.339}}</ref>
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| *[[CPVT]] was described as a familial [[cardiac arrhythmia]] that occurs in patients with structurally normal heart and causes [[exercise]] or emotion triggered [[syncope]] and [[sudden death]] with a distinguishing pattern of [[ventricular arrhythmias|ventricular]] and [[supraventricular arrhythmias]].
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| *In 2001, Cardiac [[ryanodine receptor 2|Ryanodine Receptor]] Gene (hRyR2) mutations were first identified in the pathogenesis of Catecholaminergic polymorphic ventricular tachycardia.<ref name="PrioriNapolitano2001">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Tiso|first3=Natascia|last4=Memmi|first4=Mirella|last5=Vignati|first5=Gabriele|last6=Bloise|first6=Raffaella|last7=Sorrentino|first7=Vincenzo|last8=Danieli|first8=Gian Antonio|title=
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| Mutations in the Cardiac Ryanodine Receptor Gene (
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| hRyR2
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| ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
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| |journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref>
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| *In 1995 and 2002, the clinical studies by [[Leenhardt et al]] and [[Priori et al]], respectively, have contributed to the understanding of the natural history of [[CPVT]].<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref><ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref>
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| *In 2004, studies showed that [[Ryanodine receptor 2|RyR2]] mutations reduced the threshold for Store-Overload-Induced [[Calcium|Ca2+]] Release (SOICR) and increased the tendency for triggered [[arrhythmia]]. Thus it appeared evident that catecholaminergic polymorphic ventricular tachycardia was caused by uncontrolled [[Calcium|Ca2+]] release from the [[sarcoplasmic reticulum]].<ref name="JiangXiao2004">{{cite journal|last1=Jiang|first1=D.|last2=Xiao|first2=B.|last3=Yang|first3=D.|last4=Wang|first4=R.|last5=Choi|first5=P.|last6=Zhang|first6=L.|last7=Cheng|first7=H.|last8=Chen|first8=S. R. W.|title=RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)|journal=Proceedings of the National Academy of Sciences|volume=101|issue=35|year=2004|pages=13062–13067|issn=0027-8424|doi=10.1073/pnas.0402388101}}</ref>
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| *In 2006, subsequent experimental studies demonstrated that the abnormal [[calcium]] release caused [[arrhythmias]] mediated by delayed [[afterdepolarizations]] and [[triggered activity]].<ref name="LiuColombi2006">{{cite journal|last1=Liu|first1=Nian|last2=Colombi|first2=Barbara|last3=Memmi|first3=Mirella|last4=Zissimopoulos|first4=Spyros|last5=Rizzi|first5=Nicoletta|last6=Negri|first6=Sara|last7=Imbriani|first7=Marcello|last8=Napolitano|first8=Carlo|last9=Lai|first9=F. Anthony|last10=Priori|first10=Silvia G.|title=Arrhythmogenesis in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation Research|volume=99|issue=3|year=2006|pages=292–298|issn=0009-7330|doi=10.1161/01.RES.0000235869.50747.e1}}</ref>
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| == Classification == | | ==[[Catecholaminergic polymorphic ventricular tachycardia historical perspective|Historical Perspective]]== |
| {| class="wikitable"
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| |-
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| ! Type
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| ! [[OMIM]]
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| ! Gene
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| ! Protein
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| ! Mode of inheritance
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| ! Locus
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| |-
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| | CPVT1
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| | {{OMIM2|604772}}
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| | ''[[ryanodine receptor 2|RyR2]]''
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| | [[Ryanodine receptor 2]]
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| | [[Autosomal dominant]]
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| | 1q42.1-q43
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| |-
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| | CPVT2
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| | {{OMIM2|611938}}
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| | ''[[Calsequestrin|CASQ2]]''
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| | [[Calsequestrin|Calsequestrin 2]]
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| | [[Autosomal recessive]]
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| | 1p13.3-p11
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| |-
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| | CPVT3
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| | {{OMIM2|614021}}
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| | ''Unknown''
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| | -
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| | [[Autosomal recessive]]
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| | 7p14–p22
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| |-
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| | CPVT4
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| | {{OMIM2|614916}}
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| | ''[[Calmodulin 1|CALM1]]''
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| | [[Calmodulin 1]]
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| | [[Autosomal dominant]]
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| | 14q32.11
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| |-
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| | CPVT5
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| | {{OMIM2|615441}}
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| | ''[[TRDN]]''
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| | [[Triadin]]
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| | [[Autosomal recessive]] | |
| | 6q22.31
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| |}
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| ==Pathophysiology==
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| The [[voltage-gated ion channel]] [[mutation]] associated with [[CPVT]] intermittently causes the [[heart]] to develop [[polymorphic ventricular tachycardia]] in response to the natural release of [[catecholamines]]. [[Catecholaminergic polymorphic VT]] may have both [[autosomal dominant]] and [[autosomal recessive]] pattern of [[inheritance]]. The following [[genes]] are associated with [[CPVT]]:
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| *'''[[ryanodine receptor 2|RYR2]]''':
| | ==[[Catecholaminergic polymorphic ventricular tachycardia classification|Classification]]== |
| **[[Mutations]] in [[ryanodine receptor 2|cardiac ryanodine receptor]] gene [[ryanodine receptor 2|RyR2]] accounts for CPVT 1, and majority of the cases (approximately 50-65%).<ref name="PrioriNapolitano2001">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Tiso|first3=Natascia|last4=Memmi|first4=Mirella|last5=Vignati|first5=Gabriele|last6=Bloise|first6=Raffaella|last7=Sorrentino|first7=Vincenzo|last8=Danieli|first8=Gian Antonio|title=
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| Mutations in the Cardiac Ryanodine Receptor Gene (
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| hRyR2
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| ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
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| |journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref><ref name="AckermanPriori2011">{{cite journal|last1=Ackerman|first1=M. J.|last2=Priori|first2=S. G.|last3=Willems|first3=S.|last4=Berul|first4=C.|last5=Brugada|first5=R.|last6=Calkins|first6=H.|last7=Camm|first7=A. J.|last8=Ellinor|first8=P. T.|last9=Gollob|first9=M.|last10=Hamilton|first10=R.|last11=Hershberger|first11=R. E.|last12=Judge|first12=D. P.|last13=Le Marec|first13=H.|last14=McKenna|first14=W. J.|last15=Schulze-Bahr|first15=E.|last16=Semsarian|first16=C.|last17=Towbin|first17=J. A.|last18=Watkins|first18=H.|last19=Wilde|first19=A.|last20=Wolpert|first20=C.|last21=Zipes|first21=D. P.|title=HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)|journal=Europace|volume=13|issue=8|year=2011|pages=1077–1109|issn=1099-5129|doi=10.1093/europace/eur245}}</ref>
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| **Genetic linkage studies revealed the disease-causing [[locus]] with an [[autosomal dominant]] inheritance pattern on [[chromosome]] [[1q42–q43]].<ref name="SwanPiippo1999">{{cite journal|last1=Swan|first1=Heikki|last2=Piippo|first2=Kirsi|last3=Viitasalo|first3=Matti|last4=Heikkilä|first4=Päivi|last5=Paavonen|first5=Timo|last6=Kainulainen|first6=Katariina|last7=Kere|first7=Juha|last8=Keto|first8=Pekka|last9=Kontula|first9=Kimmo|last10=Toivonen|first10=Lauri|title=Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts|journal=Journal of the American College of Cardiology|volume=34|issue=7|year=1999|pages=2035–2042|issn=07351097|doi=10.1016/S0735-1097(99)00461-1}}</ref>
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| **[[ryanodine receptor 2|RyR2]] is involved in intracellular [[calcium]] [[homeostasis]] and in the [[excitation-contraction coupling]] of the [[heart]].
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| **Mutations in [[ryanodine receptor 2|RYR2]] cause uncontrolled [[calcium]] leakage from the [[sarcoplasmic reticulum]] during electrical [[diastole]], with a subsequent increase in the [[cytosolic]] [[calcium]] concentration.<ref name="JiangXiao2004">{{cite journal|last1=Jiang|first1=D.|last2=Xiao|first2=B.|last3=Yang|first3=D.|last4=Wang|first4=R.|last5=Choi|first5=P.|last6=Zhang|first6=L.|last7=Cheng|first7=H.|last8=Chen|first8=S. R. W.|title=RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)|journal=Proceedings of the National Academy of Sciences|volume=101|issue=35|year=2004|pages=13062–13067|issn=0027-8424|doi=10.1073/pnas.0402388101}}</ref><ref name="PrioriNapolitano2001">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Tiso|first3=Natascia|last4=Memmi|first4=Mirella|last5=Vignati|first5=Gabriele|last6=Bloise|first6=Raffaella|last7=Sorrentino|first7=Vincenzo|last8=Danieli|first8=Gian Antonio|title=
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| Mutations in the Cardiac Ryanodine Receptor Gene (
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| hRyR2
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| ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
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| |journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref>
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| *'''[[Calsequestrin|CASQ2]]''':
| | ==[[Catecholaminergic polymorphic ventricular tachycardia pathophysiology|Pathophysiology]]== |
| **[[Mutations]] in [[Calsequestrin|cardiac calsequestrin]] gene [[Calsequestrin|CASQ2]] accounts for CPVT 2, for approximately 2–5% of the CPVT cases.<ref name="LahatPras2001">{{cite journal|last1=Lahat|first1=Hadas|last2=Pras|first2=Elon|last3=Olender|first3=Tsviya|last4=Avidan|first4=Nili|last5=Ben-Asher|first5=Edna|last6=Man|first6=Orna|last7=Levy-Nissenbaum|first7=Etgar|last8=Khoury|first8=Asad|last9=Lorber|first9=Avraham|last10=Goldman|first10=Boleslaw|last11=Lancet|first11=Doron|last12=Eldar|first12=Michael|title=A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel|journal=The American Journal of Human Genetics|volume=69|issue=6|year=2001|pages=1378–1384|issn=00029297|doi=10.1086/324565}}</ref>
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| **The chromosome involved is located on 1p13.3-p11 with an autosomal recessive pattern of inheritance.
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| **[[Calsequestrin|CASQ2]] is a [[calcium|Ca2+]] buffering protein within the [[sarcoplasmic reticulum]] that plays a role in the control of [[calcium]] release from the [[sarcoplasmic reticulum]] to the [[cytosol]].
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| The [[genes]] encoding [[ryanodine receptor 2|cardiac ryanodine-calcium release channel]] [[ryanodine receptor 2|RyR2]] or, infrequently, [[Calsequestrin|cardiac calsequestrin]] [[Calsequestrin|CASQ2]] are thus involved in the release of [[calcium]] from the [[sarcoplasmic reticulum]] and [[mutations]] therein result in inappropriate [[calcium]] leak from the [[sarcoplasmic reticulum]].<ref name="JiangXiao2004">{{cite journal|last1=Jiang|first1=D.|last2=Xiao|first2=B.|last3=Yang|first3=D.|last4=Wang|first4=R.|last5=Choi|first5=P.|last6=Zhang|first6=L.|last7=Cheng|first7=H.|last8=Chen|first8=S. R. W.|title=RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)|journal=Proceedings of the National Academy of Sciences|volume=101|issue=35|year=2004|pages=13062–13067|issn=0027-8424|doi=10.1073/pnas.0402388101}}</ref><ref name="di BarlettaViatchenko-Karpinski2006">{{cite journal|last1=di Barletta|first1=Marina Raffaele|last2=Viatchenko-Karpinski|first2=Serge|last3=Nori|first3=Alessandra|last4=Memmi|first4=Mirella|last5=Terentyev|first5=Dmitry|last6=Turcato|first6=Federica|last7=Valle|first7=Giorgia|last8=Rizzi|first8=Nicoletta|last9=Napolitano|first9=Carlo|last10=Gyorke|first10=Sandor|last11=Volpe|first11=Pompeo|last12=Priori|first12=Silvia G.|title=
| | ==[[Catecholaminergic polymorphic ventricular tachycardia causes|Causes]]== |
| Clinical Phenotype and Functional Characterization of
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| CASQ2
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| Mutations Associated With Catecholaminergic Polymorphic Ventricular Tachycardia
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| |journal=Circulation|volume=114|issue=10|year=2006|pages=1012–1019|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.106.623793}}</ref><ref name="LehnartWehrens2004">{{cite journal|last1=Lehnart|first1=Stephan E.|last2=Wehrens|first2=Xander H.T.|last3=Laitinen|first3=Päivi J.|last4=Reiken|first4=Steven R.|last5=Deng|first5=Shi-Xiang|last6=Cheng|first6=Zhenzhuang|last7=Landry|first7=Donald W.|last8=Kontula|first8=Kimmo|last9=Swan|first9=Heikki|last10=Marks|first10=Andrew R.|title=Sudden Death in Familial Polymorphic Ventricular Tachycardia Associated With Calcium Release Channel (Ryanodine Receptor) Leak|journal=Circulation|volume=109|issue=25|year=2004|pages=3208–3214|issn=0009-7322|doi=10.1161/01.CIR.0000132472.98675.EC}}</ref>
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| The [[cytosolic]] [[calcium]] overload activates the [[sodium-calcium exchanger]], leading to a transient inward current, and delayed [[after-depolarizations]] that in turn can lead to triggered [[arrhythmias]], particularly under conditions of high [[adrenergic|β-adrenergic]] tone.<ref name="CerroneNoujaim2007">{{cite journal|last1=Cerrone|first1=Marina|last2=Noujaim|first2=Sami F.|last3=Tolkacheva|first3=Elena G.|last4=Talkachou|first4=Arkadzi|last5=O’Connell|first5=Ryan|last6=Berenfeld|first6=Omer|last7=Anumonwo|first7=Justus|last8=Pandit|first8=Sandeep V.|last9=Vikstrom|first9=Karen|last10=Napolitano|first10=Carlo|last11=Priori|first11=Silvia G.|last12=Jalife|first12=José|title=Arrhythmogenic Mechanisms in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation Research|volume=101|issue=10|year=2007|pages=1039–1048|issn=0009-7330|doi=10.1161/CIRCRESAHA.107.148064}}</ref><ref name="Knollmann2006">{{cite journal|last1=Knollmann|first1=B. C.|title=Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia|journal=Journal of Clinical Investigation|year=2006|issn=0021-9738|doi=10.1172/JCI29128}}</ref>
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| Other genes that have been associated with CPVT are:
| | ==[[Catecholaminergic polymorphic ventricular tachycardia differential diagnosis|Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases]]== |
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| *'''Unknown''':
| | ==[[Catecholaminergic polymorphic ventricular tachycardia epidemiology and demographics|Epidemiology and Demographics]]== |
| **[[CPVT]] 3 has been linked to [[chromosome]] 7p14–p22 with an [[autosomal recessive]] pattern of [[inheritance]].<ref name="BhuiyanHamdan2007">{{cite journal|last1=Bhuiyan|first1=Zahurul A.|last2=Hamdan|first2=Mohamed A.|last3=Shamsi|first3=Eman T.A.|last4=Postma|first4=Alex V.|last5=Mannens|first5=Marcel M.A.M.|last6=Wilde|first6=Arthur A. M.|last7=Al-Gazali|first7=Lihadh|title=A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22|journal=Journal of Cardiovascular Electrophysiology|volume=18|issue=10|year=2007|pages=1060–1066|issn=1045-3873|doi=10.1111/j.1540-8167.2007.00913.x}}</ref>
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| **This novel [[phenotype]] is highly malignant form of [[CPVT]], characterized by exercise-induced [[ventricular arrhythmia]] and a minor exercise-induced [[QT-prolongation]].
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| *'''[[Calmodulin 1|CALM1]]'''
| | ==[[Catecholaminergic polymorphic ventricular tachycardia risk factors|Risk Factors]]== |
| **[[Mutations]] in [[Calmodulin 1]] gene [[Calmodulin 1|CALM1]] accounts for [[CPVT]] 4, for approximately <1% of the [[CPVT]] cases.
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| **[[Mutation]] in the [[Calmodulin 1|CALM1]] gene was first identified in a [[Swedish]] family with a history of exercise-induced ventricular arrhythmias, syncope, and sudden death.<ref name="NyegaardOvergaard2012">{{cite journal|last1=Nyegaard|first1=Mette|last2=Overgaard|first2=Michael T.|last3=Søndergaard|first3=Mads T.|last4=Vranas|first4=Marta|last5=Behr|first5=Elijah R.|last6=Hildebrandt|first6=Lasse L.|last7=Lund|first7=Jacob|last8=Hedley|first8=Paula L.|last9=Camm|first9=A. John|last10=Wettrell|first10=Göran|last11=Fosdal|first11=Inger|last12=Christiansen|first12=Michael|last13=Børglum|first13=Anders D.|title=Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death|journal=The American Journal of Human Genetics|volume=91|issue=4|year=2012|pages=703–712|issn=00029297|doi=10.1016/j.ajhg.2012.08.015}}</ref>
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| **The [[chromosome]] involved is located on 14q32 with an [[autosomal dominant]] pattern of [[inheritance]].
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| **[[Calmodulin 1|Calmodulin]] is a [[calcium]]-binding protein that stabilizes [[Ryanodine receptor|RYR2]] and controls its opening during [[diastole]].<ref name="NyegaardOvergaard2012">{{cite journal|last1=Nyegaard|first1=Mette|last2=Overgaard|first2=Michael T.|last3=Søndergaard|first3=Mads T.|last4=Vranas|first4=Marta|last5=Behr|first5=Elijah R.|last6=Hildebrandt|first6=Lasse L.|last7=Lund|first7=Jacob|last8=Hedley|first8=Paula L.|last9=Camm|first9=A. John|last10=Wettrell|first10=Göran|last11=Fosdal|first11=Inger|last12=Christiansen|first12=Michael|last13=Børglum|first13=Anders D.|title=Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death|journal=The American Journal of Human Genetics|volume=91|issue=4|year=2012|pages=703–712|issn=00029297|doi=10.1016/j.ajhg.2012.08.015}}</ref>
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|
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| *'''[[TRDN]]''':
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| **[[Mutations]] in [[Triadin]] gene [[TRDN]] accounts for [[CPVT]] 5, for approximately 1-2% of the CPVT cases.<ref name="Roux-BuissonCacheux2012">{{cite journal|last1=Roux-Buisson|first1=Nathalie|last2=Cacheux|first2=Marine|last3=Fourest-Lieuvin|first3=Anne|last4=Fauconnier|first4=Jeremy|last5=Brocard|first5=Julie|last6=Denjoy|first6=Isabelle|last7=Durand|first7=Philippe|last8=Guicheney|first8=Pascale|last9=Kyndt|first9=Florence|last10=Leenhardt|first10=Antoine|last11=Le Marec|first11=Hervé|last12=Lucet|first12=Vincent|last13=Mabo|first13=Philippe|last14=Probst|first14=Vincent|last15=Monnier|first15=Nicole|last16=Ray|first16=Pierre F.|last17=Santoni|first17=Elodie|last18=Trémeaux|first18=Pauline|last19=Lacampagne|first19=Alain|last20=Fauré|first20=Julien|last21=Lunardi|first21=Joël|last22=Marty|first22=Isabelle|title=Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|journal=Human Molecular Genetics|volume=21|issue=12|year=2012|pages=2759–2767|issn=0964-6906|doi=10.1093/hmg/dds104}}</ref>
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| **[[Mutations]] in the [[gene]] encoding [[Triadin]] ([[TRDN]]) were identified in the probands of 2 families in whom [[mutations]] for [[Ryanodine receptor|RYR2]] and [[Calsequestrin|CASQ2]] were not identified.<ref name="Roux-BuissonCacheux2012">{{cite journal|last1=Roux-Buisson|first1=Nathalie|last2=Cacheux|first2=Marine|last3=Fourest-Lieuvin|first3=Anne|last4=Fauconnier|first4=Jeremy|last5=Brocard|first5=Julie|last6=Denjoy|first6=Isabelle|last7=Durand|first7=Philippe|last8=Guicheney|first8=Pascale|last9=Kyndt|first9=Florence|last10=Leenhardt|first10=Antoine|last11=Le Marec|first11=Hervé|last12=Lucet|first12=Vincent|last13=Mabo|first13=Philippe|last14=Probst|first14=Vincent|last15=Monnier|first15=Nicole|last16=Ray|first16=Pierre F.|last17=Santoni|first17=Elodie|last18=Trémeaux|first18=Pauline|last19=Lacampagne|first19=Alain|last20=Fauré|first20=Julien|last21=Lunardi|first21=Joël|last22=Marty|first22=Isabelle|title=Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|journal=Human Molecular Genetics|volume=21|issue=12|year=2012|pages=2759–2767|issn=0964-6906|doi=10.1093/hmg/dds104}}</ref>
| |
| **The [[chromosome]] involved is located on 6q22 with an [[autosomal recessive]] pattern of [[inheritance]].
| |
| **[[Triadin]] is a [[protein]] within the [[sarcoplasmic reticulum]], physically and functionally related to the ryanodine receptor that plays a role in the control of [[calcium]] release from the [[sarcoplasmic reticulum]] to the [[cytosol]].
| |
| **[[TRDN]] [[mutations]] impair [[FKBP|FKBP12.6]]–[[Ryanodine receptor|RYR2]] interaction, thus destabilizing the [[Ryanodine receptor|RyR2 channel]] opening,<ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1289/# |title=Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref> or by a reduction of [[Calsequestrin|CASQ2]] [[protein]] levels.<ref name="Roux-BuissonCacheux2012">{{cite journal|last1=Roux-Buisson|first1=Nathalie|last2=Cacheux|first2=Marine|last3=Fourest-Lieuvin|first3=Anne|last4=Fauconnier|first4=Jeremy|last5=Brocard|first5=Julie|last6=Denjoy|first6=Isabelle|last7=Durand|first7=Philippe|last8=Guicheney|first8=Pascale|last9=Kyndt|first9=Florence|last10=Leenhardt|first10=Antoine|last11=Le Marec|first11=Hervé|last12=Lucet|first12=Vincent|last13=Mabo|first13=Philippe|last14=Probst|first14=Vincent|last15=Monnier|first15=Nicole|last16=Ray|first16=Pierre F.|last17=Santoni|first17=Elodie|last18=Trémeaux|first18=Pauline|last19=Lacampagne|first19=Alain|last20=Fauré|first20=Julien|last21=Lunardi|first21=Joël|last22=Marty|first22=Isabelle|title=Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|journal=Human Molecular Genetics|volume=21|issue=12|year=2012|pages=2759–2767|issn=0964-6906|doi=10.1093/hmg/dds104}}</ref>, thus affecting [[calcium]] release and resulting in a calcium leak during [[diastole]] similar to that observed for [[Ryanodine receptor|RyR2]] mutants.
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|
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|
| More recently, two other genes have been reported to cause [[CPVT]]-like [[phenotype]] (phenocopy):<ref name="Tristani-FirouziJensen2002">{{cite journal|last1=Tristani-Firouzi|first1=Martin|last2=Jensen|first2=Judy L.|last3=Donaldson|first3=Matthew R.|last4=Sansone|first4=Valeria|last5=Meola|first5=Giovanni|last6=Hahn|first6=Angelika|last7=Bendahhou|first7=Said|last8=Kwiecinski|first8=Hubert|last9=Fidzianska|first9=Anna|last10=Plaster|first10=Nikki|last11=Fu|first11=Ying-Hui|last12=Ptacek|first12=Louis J.|last13=Tawil|first13=Rabi|title=Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)|journal=Journal of Clinical Investigation|volume=110|issue=3|year=2002|pages=381–388|issn=0021-9738|doi=10.1172/JCI15183}}</ref><ref name="MohlerSplawski2004">{{cite journal|last1=Mohler|first1=Peter J.|last2=Splawski|first2=Igor|last3=Napolitano|first3=Carlo|last4=Bottelli|first4=Georgia|last5=Sharpe|first5=Leah|last6=Timothy|first6=Katherine|last7=Priori|first7=Silvia G.|last8=Keating|first8=Mark T.|last9=Bennett|first9=Vann|title=A cardiac arrhythmia syndrome caused by loss of ankyrin-B function|journal=Proceedings of the National Academy of Sciences|volume=101|issue=24|year=2004|pages=9137–9142|issn=0027-8424|doi=10.1073/pnas.0402546101}}</ref>
| | ==[[Catecholaminergic polymorphic ventricular tachycardia screening|Screening]]== |
| *'''[[KCNJ2]]'''- encoding for [[Inward-rectifier potassium ion channel]] - [[autosomal dominant]] - 17q24.3
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| *'''[[Ankyrins|ANKB]]'''- encoding for [[Ankyrins|ankyrin B]], a [[cytoskeletal protein]] - [[autosomal dominant]] - 4q25
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|
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|
| ==Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases== | | ==[[Catecholaminergic polymorphic ventricular tachycardia natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| Catecholaminergic polymorphic ventricular tachycardia must be differentiated from other diseases that cause [[syncope]], [[ventricular tachycardia]], and [[sudden cardiac death]], such as:
| |
| *[[Arrhythmogenic right ventricular dysplasia]]
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| *Short-coupled [[ventricular tachycardia]] (SC-[[torsade de pointes]] [TdP])
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| *[[Long QT syndrome]]
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| *[[Andersen-Tawil syndrome]]
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|
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|
| ==Epidemiology and Demographics== | | ==Diagnosis== |
| | | [[Catecholaminergic polymorphic ventricular tachycardia diagnostic study of choice|Diagnostic study of choice]] | [[Catecholaminergic polymorphic ventricular tachycardia history and symptoms|History and Symptoms]] | [[Catecholaminergic polymorphic ventricular tachycardia physical examination|Physical Examination]] | [[Catecholaminergic polymorphic ventricular tachycardia laboratory findings|Laboratory Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia electrocardiogram|Electrocardiogram]] | [[Catecholaminergic polymorphic ventricular tachycardia exercise stress testing|Exercise Stress Testing]] | [[Catecholaminergic polymorphic ventricular tachycardia genetic testing|Genetic Testing]] | [[Catecholaminergic polymorphic ventricular tachycardia x ray|X-Ray Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Catecholaminergic polymorphic ventricular tachycardia CT scan|CT-Scan Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia MRI|MRI Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia other imaging findings|Other Imaging Findings]] | [[Catecholaminergic polymorphic ventricular tachycardia other diagnostic studies|Other Diagnostic Studies]] |
| * The [[prevalence]] of catecholaminergic polymorphic ventricular tachycardia is estimated to be 1 per 10,000 individuals. Although the true [[prevalence]] is unknown.<ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1289/# |title=Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref>
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| | |
| ===Age===
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| *Catecholaminergic polymorphic ventricular tachycardia onset is more commonly observed during [[childhood]] and [[adolescence]] with the [[mean]] age of onset of symptoms between age 7 and 12 years.<ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref><ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1289/# |title=Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref><ref name="AckermanPriori2011">{{cite journal|last1=Ackerman|first1=M. J.|last2=Priori|first2=S. G.|last3=Willems|first3=S.|last4=Berul|first4=C.|last5=Brugada|first5=R.|last6=Calkins|first6=H.|last7=Camm|first7=A. J.|last8=Ellinor|first8=P. T.|last9=Gollob|first9=M.|last10=Hamilton|first10=R.|last11=Hershberger|first11=R. E.|last12=Judge|first12=D. P.|last13=Le Marec|first13=H.|last14=McKenna|first14=W. J.|last15=Schulze-Bahr|first15=E.|last16=Semsarian|first16=C.|last17=Towbin|first17=J. A.|last18=Watkins|first18=H.|last19=Wilde|first19=A.|last20=Wolpert|first20=C.|last21=Zipes|first21=D. P.|title=HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)|journal=Europace|volume=13|issue=8|year=2011|pages=1077–1109|issn=1099-5129|doi=10.1093/europace/eur245}}</ref>
| |
| *[[CPVT]] has also been reported in [[adults]] with onset as late as the fourth decade.<ref name="Sumitomo2003">{{cite journal|last1=Sumitomo|first1=N|title=Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death|journal=Heart|volume=89|issue=1|year=2003|pages=66–70|issn=00070769|doi=10.1136/heart.89.1.66}}</ref>
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|
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| ===Gender===
| |
| *[[CPVT]] affects males and females equally;<ref name="HayashiDenjoy2009">{{cite journal|last1=Hayashi|first1=Meiso|last2=Denjoy|first2=Isabelle|last3=Extramiana|first3=Fabrice|last4=Maltret|first4=Alice|last5=Buisson|first5=Nathalie Roux|last6=Lupoglazoff|first6=Jean-Marc|last7=Klug|first7=Didier|last8=Hayashi|first8=Miyuki|last9=Takatsuki|first9=Seiji|last10=Villain|first10=Elisabeth|last11=Kamblock|first11=Joël|last12=Messali|first12=Anne|last13=Guicheney|first13=Pascale|last14=Lunardi|first14=Joël|last15=Leenhardt|first15=Antoine|title=Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=119|issue=18|year=2009|pages=2426–2434|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.108.829267}}</ref> although males are more likely to present at an earlier age (in childhood or adolescence), while females are more likely to present at an older age (20 years, mean).<ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref>
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| | |
| ===Race===
| |
| *There is no racial predilection for [[CPVT]].
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|
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|
| ==Risk factors== | | ==Treatment== |
| The possible risk factors in the development of catecholaminergic polymorphic ventricular tachycardia ([[CPVT]]) are:
| | [[Catecholaminergic polymorphic ventricular tachycardia medical therapy|Medical Therapy]] | [[Catecholaminergic polymorphic ventricular tachycardia implantable cardioverter-defibrillator|Implantable Cardioverter-Defibrillator]] | [[Catecholaminergic polymorphic ventricular tachycardia surgery|Surgery]] | [[Catecholaminergic polymorphic ventricular tachycardia primary prevention|Primary Prevention]] | [[Catecholaminergic polymorphic ventricular tachycardia secondary prevention|Secondary Prevention]] | [[Catecholaminergic polymorphic ventricular tachycardia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Catecholaminergic polymorphic ventricular tachycardia future or investigational therapies|Future or Investigational Therapies]] |
| *Physical activity such as exercise,
| |
| *Stress,
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| *Young age,
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| *Family history of [[syncope]] or [[sudden death]], and
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| *Family history of [[CPVT]]
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|
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|
| ==Screening== | | ==Case Studies== |
| *[[Screening]] of all the first-degree relatives is indicated when a likely pathogenetic [[mutation]] is identified in clinically affected [[index case|index cases]].
| | [[Catecholaminergic polymorphic ventricular tachycardia case study one|Case #1]] |
| *Clinical and [[genetic]] evaluation, including [[exercise stress testing]] is recommended for both first- and second-degree relatives.
| |
| *[[Exercise stress testing]] has a [[specificity]] of 97% and a [[sensitivity]] of 50% for predicting the presence of the familial [[CPVT]]-associated [[mutation]] in [[asymptomatic]] relatives of [[CPVT]] patients.<ref name="HayashiDenjoy2009">{{cite journal|last1=Hayashi|first1=Meiso|last2=Denjoy|first2=Isabelle|last3=Extramiana|first3=Fabrice|last4=Maltret|first4=Alice|last5=Buisson|first5=Nathalie Roux|last6=Lupoglazoff|first6=Jean-Marc|last7=Klug|first7=Didier|last8=Hayashi|first8=Miyuki|last9=Takatsuki|first9=Seiji|last10=Villain|first10=Elisabeth|last11=Kamblock|first11=Joël|last12=Messali|first12=Anne|last13=Guicheney|first13=Pascale|last14=Lunardi|first14=Joël|last15=Leenhardt|first15=Antoine|title=Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=119|issue=18|year=2009|pages=2426–2434|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.108.829267}}</ref><ref name="van der WerfNederend2012">{{cite journal|last1=van der Werf|first1=Christian|last2=Nederend|first2=Ineke|last3=Hofman|first3=Nynke|last4=van Geloven|first4=Nan|last5=Ebink|first5=Corné|last6=Frohn-Mulder|first6=Ingrid M.E.|last7=Alings|first7=A. Marco W.|last8=Bosker|first8=Hans A.|last9=Bracke|first9=Frank A.|last10=van den Heuvel|first10=Freek|last11=Waalewijn|first11=Reinier A.|last12=Bikker|first12=Hennie|last13=van Tintelen|first13=J. Peter|last14=Bhuiyan|first14=Zahurul A.|last15=van den Berg|first15=Maarten P.|last16=Wilde|first16=Arthur A.M.|title=Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation: Arrhythmia and Electrophysiology|volume=5|issue=4|year=2012|pages=748–756|issn=1941-3149|doi=10.1161/CIRCEP.112.970517}}</ref><ref name="HayashiDenjoy2012">{{cite journal|last1=Hayashi|first1=Miyuki|last2=Denjoy|first2=Isabelle|last3=Hayashi|first3=Meiso|last4=Extramiana|first4=Fabrice|last5=Maltret|first5=Alice|last6=Roux-Buisson|first6=Nathalie|last7=Lupoglazoff|first7=Jean-Marc|last8=Klug|first8=Didier|last9=Maury|first9=Philippe|last10=Messali|first10=Anne|last11=Guicheney|first11=Pascale|last12=Leenhardt|first12=Antoine|title=The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands|journal=EP Europace|volume=14|issue=9|year=2012|pages=1344–1351|issn=1532-2092|doi=10.1093/europace/eus031}}</ref>
| |
| *[[Genetic testing]] for [[Ryanodine receptor 2|RyR2]] and [[Calsequestrin|CASQ2]] [[mutations]] should also be considered in first-degree relatives, even with a negative clinical [[phenotype]].
| |
| *Screening by repeat [[exercise testing]] is also recommended in first-degree relatives of [[mutation]]-negative patients with [[CPVT]], depending on the age of the relative.<ref name="AckermanPriori2011">{{cite journal|last1=Ackerman|first1=M. J.|last2=Priori|first2=S. G.|last3=Willems|first3=S.|last4=Berul|first4=C.|last5=Brugada|first5=R.|last6=Calkins|first6=H.|last7=Camm|first7=A. J.|last8=Ellinor|first8=P. T.|last9=Gollob|first9=M.|last10=Hamilton|first10=R.|last11=Hershberger|first11=R. E.|last12=Judge|first12=D. P.|last13=Le Marec|first13=H.|last14=McKenna|first14=W. J.|last15=Schulze-Bahr|first15=E.|last16=Semsarian|first16=C.|last17=Towbin|first17=J. A.|last18=Watkins|first18=H.|last19=Wilde|first19=A.|last20=Wolpert|first20=C.|last21=Zipes|first21=D. P.|title=HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)|journal=Europace|volume=13|issue=8|year=2011|pages=1077–1109|issn=1099-5129|doi=10.1093/europace/eur245}}</ref>
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|
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|
| ==Natural History, Complications, Prognosis== | | ==Related Chapters== |
| | | *[[Ventricular tachycardia]] |
| ===Natural History===
| |
| *The symptoms of [[CPVT]] usually develop during childhood and adolescence, in the first and second decades of life, and start with symptoms such as episodes of [[syncope]].
| |
| *More than 30% of affected individuals will experience symptoms before the age of 10 years and the majority (60% to 80%) of the patients will have one or more symptomatic [[arrhythmia]] episodes before age 40.<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref> <ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref> <ref name="Sumitomo2003">{{cite journal|last1=Sumitomo|first1=N|title=Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death|journal=Heart|volume=89|issue=1|year=2003|pages=66–70|issn=00070769|doi=10.1136/heart.89.1.66}}</ref> <ref name="Postma2005">{{cite journal|last1=Postma|first1=A V|title=Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients|journal=Journal of Medical Genetics|volume=42|issue=11|year=2005|pages=863–870|issn=1468-6244|doi=10.1136/jmg.2004.028993}}</ref> | |
| *However, molecular analysis showed that there is a small group of patients who remain asymptomatic, even after [[exercise stress testing|exercise tests]] suggesting them to be having normal [[phenotype]] [[CPVT]] ([[mutation]] carriers). Some of these [[phenotype|phenotypically]] normal patients with [[CVPT]] do experience [[syncope]] and [[sudden death]].<ref name="HayashiDenjoy2009">{{cite journal|last1=Hayashi|first1=Meiso|last2=Denjoy|first2=Isabelle|last3=Extramiana|first3=Fabrice|last4=Maltret|first4=Alice|last5=Buisson|first5=Nathalie Roux|last6=Lupoglazoff|first6=Jean-Marc|last7=Klug|first7=Didier|last8=Hayashi|first8=Miyuki|last9=Takatsuki|first9=Seiji|last10=Villain|first10=Elisabeth|last11=Kamblock|first11=Joël|last12=Messali|first12=Anne|last13=Guicheney|first13=Pascale|last14=Lunardi|first14=Joël|last15=Leenhardt|first15=Antoine|title=Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=119|issue=18|year=2009|pages=2426–2434|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.108.829267}}</ref>
| |
| *If left untreated, [[CPVT]] is highly lethal, as approximately 30% of patients experience at least one [[cardiac arrest]] and up to 80% one or more [[syncope|syncopal spells]].<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref><ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref>
| |
| *The [[polymorphic ventricular tachycardia]] may self-terminate or it may degenerate into [[ventricular fibrillation]], causing [[sudden cardiac death]].
| |
| | |
| ===Complications===
| |
| Common complications of catecholaminergic polymorphic ventricular tachycardia include:
| |
| *[[Ventricular fibrillation]] | | *[[Ventricular fibrillation]] |
| *[[Sudden cardiac arrest]] | | *[[Long QT syndrome]] |
| *[[Sudden cardiac death]]
| | *[[Polymorphic ventricular tachycardia]] |
| | |
| ===Prognosis===
| |
| *[[Prognosis]] is generally poor, and the 10-year [[mortality]] of patients with [[CPVT]] is approximately 40%.<ref name="Sumitomo2003">{{cite journal|last1=Sumitomo|first1=N|title=Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death|journal=Heart|volume=89|issue=1|year=2003|pages=66–70|issn=00070769|doi=10.1136/heart.89.1.66}}</ref>
| |
| *Studies show that there is a correlation between the age of the first [[syncope]] and the severity of the disease, with a worse prognosis in the case of early occurrence.<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref>
| |
| *If left untreated, patients with [[CPVT]] have a [[mortality rate]] of 30% before age 40.<ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref><ref name="HayashiDenjoy2009">{{cite journal|last1=Hayashi|first1=Meiso|last2=Denjoy|first2=Isabelle|last3=Extramiana|first3=Fabrice|last4=Maltret|first4=Alice|last5=Buisson|first5=Nathalie Roux|last6=Lupoglazoff|first6=Jean-Marc|last7=Klug|first7=Didier|last8=Hayashi|first8=Miyuki|last9=Takatsuki|first9=Seiji|last10=Villain|first10=Elisabeth|last11=Kamblock|first11=Joël|last12=Messali|first12=Anne|last13=Guicheney|first13=Pascale|last14=Lunardi|first14=Joël|last15=Leenhardt|first15=Antoine|title=Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=119|issue=18|year=2009|pages=2426–2434|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.108.829267}}</ref>
| |
| | |
| ==Diagnosis==
| |
| ===Diagnostic Criteria===
| |
| | |
| *The diagnosis of [[CPVT]] is made when at least one of the following four diagnostic criteria are met:<ref name="PrioriWilde2013">{{cite journal|last1=Priori|first1=Silvia G.|last2=Wilde|first2=Arthur A.|last3=Horie|first3=Minoru|last4=Cho|first4=Yongkeun|last5=Behr|first5=Elijah R.|last6=Berul|first6=Charles|last7=Blom|first7=Nico|last8=Brugada|first8=Josep|last9=Chiang|first9=Chern-En|last10=Huikuri|first10=Heikki|last11=Kannankeril|first11=Prince|last12=Krahn|first12=Andrew|last13=Leenhardt|first13=Antoine|last14=Moss|first14=Arthur|last15=Schwartz|first15=Peter J.|last16=Shimizu|first16=Wataru|last17=Tomaselli|first17=Gordon|last18=Tracy|first18=Cynthia|last19=Ackerman|first19=Michael|last20=Belhassen|first20=Bernard|last21=Estes|first21=N. A. Mark|last22=Fatkin|first22=Diane|last23=Kalman|first23=Jonathan|last24=Kaufman|first24=Elizabeth|last25=Kirchhof|first25=Paulus|last26=Schulze-Bahr|first26=Eric|last27=Wolpert|first27=Christian|last28=Vohra|first28=Jitendra|last29=Refaat|first29=Marwan|last30=Etheridge|first30=Susan P.|last31=Campbell|first31=Robert M.|last32=Martin|first32=Edward T.|last33=Quek|first33=Swee Chye|title=Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes|journal=EP Europace|volume=15|issue=10|year=2013|pages=1389–1406|issn=1532-2092|doi=10.1093/europace/eut272}}</ref><ref name="PrioriBlomström-Lundqvist2015">{{cite journal|last1=Priori|first1=Silvia G.|last2=Blomström-Lundqvist|first2=Carina|last3=Mazzanti|first3=Andrea|last4=Blom|first4=Nico|last5=Borggrefe|first5=Martin|last6=Camm|first6=John|last7=Elliott|first7=Perry Mark|last8=Fitzsimons|first8=Donna|last9=Hatala|first9=Robert|last10=Hindricks|first10=Gerhard|last11=Kirchhof|first11=Paulus|last12=Kjeldsen|first12=Keld|last13=Kuck|first13=Karl-Heinz|last14=Hernandez-Madrid|first14=Antonio|last15=Nikolaou|first15=Nikolaos|last16=Norekvål|first16=Tone M.|last17=Spaulding|first17=Christian|last18=Van Veldhuisen|first18=Dirk J.|title=2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death|journal=European Heart Journal|volume=36|issue=41|year=2015|pages=2793–2867|issn=0195-668X|doi=10.1093/eurheartj/ehv316}}</ref>
| |
| *# [[CPVT]] is diagnosed in the presence of a structurally normal [[heart]], normal [[ECG]], and unexplained exercise or [[catecholamine]]-induced bidirectional [[VT]], polymorphic [[premature ventricular beats|ventricular premature beats]] or [[VT]] in individuals <40 years of age.
| |
| *# [[CPVT]] is diagnosed in patients (index case or family member) who have a pathogenic [[mutation]].
| |
| *# [[CPVT]] is diagnosed in family members of a [[CPVT]] index case with a normal [[heart]] who manifest exercise-induced [[premature ventricular contractions]] or bidirectional/ [[polymorphic VT]].
| |
| *# [[CPVT]] can be diagnosed in the presence of a structurally normal [[heart]] and [[coronary arteries]], normal [[ECG]], and unexplained exercise or [[catecholamine]]-induced bidirectional [[VT]], polymorphic [[premature ventricular beats|ventricular premature beats]] or [[VT]] in individuals >40 years of age.
| |
| | |
| ===Symptoms===
| |
| | |
| *Clinical presentation of CPVT is variable, including [[asymptomatic]] patients identified as a part of familial screening.
| |
| *Among the [[symptomatic]] patients,
| |
| **[[Syncope]] triggered by exercise or emotion often is the initial manifestation of catecholaminergic polymorphic ventricular tachycardia.<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref><ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref><ref name="IRCCS">{{cite journal|title=Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia|journal=Heart Rhythm|date=May 2007|first=Carlo|last=Napolitano|coauthors=Silvia G. Priori|pmid=17467641|volume=4|issue=5|pages=675–8|doi=10.1016/j.hrthm.2006.12.048|url=http://www.iranep.org/Articles/CPVT+viewpoint+Rhythm+2007.pdf|format=PDF|accessdate=2008-12-17}} {{Dead link|date=September 2010|bot=H3llBot|url=http://cardiovascres.oxfordjournals.org/cgi/content/full/67/3/379|accessdate=2009-02-09 }}</ref>
| |
| **[[Sudden cardiac death]] during exercise or emotional stress can also be the first manifestation of the disease in a relevant proportion of cases.<ref name="PrioriNapolitano2002">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Memmi|first3=Mirella|last4=Colombi|first4=Barbara|last5=Drago|first5=Fabrizio|last6=Gasparini|first6=Maurizio|last7=DeSimone|first7=Luciano|last8=Coltorti|first8=Fernando|last9=Bloise|first9=Raffaella|last10=Keegan|first10=Roberto|last11=Cruz Filho|first11=Fernando E.S.|last12=Vignati|first12=Gabriele|last13=Benatar|first13=Abraham|last14=DeLogu|first14=Angelica|title=Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=106|issue=1|year=2002|pages=69–74|issn=0009-7322|doi=10.1161/01.CIR.0000020013.73106.D8}}</ref> <ref name="TesterSpoon2004">{{cite journal|last1=Tester|first1=David J.|last2=Spoon|first2=Daniel B.|last3=Valdivia|first3=Hector H.|last4=Makielski|first4=Jonathan C.|last5=Ackerman|first5=Michael J.|title=Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death: A Molecular Autopsy of 49 Medical Examiner/Coroner's Cases|journal=Mayo Clinic Proceedings|volume=79|issue=11|year=2004|pages=1380–1384|issn=00256196|doi=10.4065/79.11.1380}}</ref><ref name="Sumitomo2003">{{cite journal|last1=Sumitomo|first1=N|title=Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death|journal=Heart|volume=89|issue=1|year=2003|pages=66–70|issn=00070769|doi=10.1136/heart.89.1.66}}</ref>
| |
| *Other symptoms include:
| |
| **[[Palpitations]]
| |
| **[[Presyncope]]
| |
| **[[Dizziness]]
| |
| | |
| ===Laboratory findings===
| |
| *There are no specific laboratory findings associated with catecholaminergic polymorphic ventricular tachycardia.
| |
| *However, to exclude [[electrolyte]] abnormalities as the cause of [[ventricular tachycardia]], ionized [[calcium]], [[magnesium]] and [[phosphate]] levels should be obtained.<ref name="pmid3337132">{{cite journal |vauthors=Tchou P, Young P, Mahmud R, Denker S, Jazayeri M, Akhtar M |title=Useful clinical criteria for the diagnosis of ventricular tachycardia |journal=Am. J. Med. |volume=84 |issue=1 |pages=53–6 |date=January 1988 |pmid=3337132 |doi=10.1016/0002-9343(88)90008-3 |url=}}</ref><ref name="pmid4709549">{{cite journal |vauthors=Lown B, Temte JV, Arter WJ |title=Cardiac arrhythmias. 6. Ventricular tachyarrhythmias. Clinical aspects |journal=Circulation |volume=47 |issue=6 |pages=1364–81 |date=June 1973 |pmid=4709549 |doi=10.1161/01.cir.47.6.1364 |url=}}</ref>
| |
| | |
| ===Electrocardiogram===
| |
| * '''Resting [[ECG]]''':
| |
| ** [[CPVT]] patients usually have a normal resting 12-lead-[[ECG]], and the [[QT interval]] is usually not prolonged.<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref><ref name="HayashiDenjoy2009">{{cite journal|last1=Hayashi|first1=Meiso|last2=Denjoy|first2=Isabelle|last3=Extramiana|first3=Fabrice|last4=Maltret|first4=Alice|last5=Buisson|first5=Nathalie Roux|last6=Lupoglazoff|first6=Jean-Marc|last7=Klug|first7=Didier|last8=Hayashi|first8=Miyuki|last9=Takatsuki|first9=Seiji|last10=Villain|first10=Elisabeth|last11=Kamblock|first11=Joël|last12=Messali|first12=Anne|last13=Guicheney|first13=Pascale|last14=Lunardi|first14=Joël|last15=Leenhardt|first15=Antoine|title=Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation|volume=119|issue=18|year=2009|pages=2426–2434|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.108.829267}}</ref><ref name="Sumitomo2003">{{cite journal|last1=Sumitomo|first1=N|title=Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death|journal=Heart|volume=89|issue=1|year=2003|pages=66–70|issn=00070769|doi=10.1136/heart.89.1.66}}</ref>
| |
| ** However, [[sinus bradycardia]] has been reported in approximately 20% of patients, as another consequence of the [[diastolic]] [[calcium]] leakage facilitated by either [[Ryanodine receptor 2|RyR2]] or [[Calsequestrin|CASQ2]] [[mutations]].<ref name="Postma2005">{{cite journal|last1=Postma|first1=A V|title=Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients|journal=Journal of Medical Genetics|volume=42|issue=11|year=2005|pages=863–870|issn=1468-6244|doi=10.1136/jmg.2004.028993}}</ref><ref name="NecoTorrente2012">{{cite journal|last1=Neco|first1=Patricia|last2=Torrente|first2=Angelo G.|last3=Mesirca|first3=Pietro|last4=Zorio|first4=Esther|last5=Liu|first5=Nian|last6=Priori|first6=Silvia G.|last7=Napolitano|first7=Carlo|last8=Richard|first8=Sylvain|last9=Benitah|first9=Jean-Pierre|last10=Mangoni|first10=Matteo E.|last11=Gómez|first11=Ana María|title= | |
| Paradoxical Effect of Increased Diastolic Ca
| |
| 2+
| |
| Release and Decreased Sinoatrial Node Activity in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia
| |
| |journal=Circulation|volume=126|issue=4|year=2012|pages=392–401|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.111.075382}}</ref>
| |
| ** In addition, prominent [[U wave|U-waves]] are observed in a subset of patients, which may also be related to altered [[intracellular]] [[calcium]] handling. However, its clinical significance is unknown.<ref name="AizawaKomura2006">{{cite journal|last1=Aizawa|first1=Yoshiyasu|last2=Komura|first2=Satoru|last3=Okada|first3=Shinsuke|last4=Chinushi|first4=Masaomi|last5=Aizawa|first5=Yoshifusa|last6=Morita|first6=Hiroshi|last7=Ohe|first7=Tohru|title=Distinct U Wave Changes in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)|journal=International Heart Journal|volume=47|issue=3|year=2006|pages=381–389|issn=1349-2365|doi=10.1536/ihj.47.381}}</ref>
| |
| **[[Supraventricular arrhythmias]], including isolated [[ectopic atrial rhythm|atrial ectopic beats]], non-sustained [[supraventricular tachycardia]] and bursts of [[atrial fibrillation]], are present in 16-26% of [[CPVT]] patients, maybe related to co-existing [[sinus node dysfunction]].<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref><ref name="SumitomoSakurada2007">{{cite journal|last1=Sumitomo|first1=Naokata|last2=Sakurada|first2=Harumizu|last3=Taniguchi|first3=Kazuo|last4=Matsumura|first4=Masaharu|last5=Abe|first5=Osamu|last6=Miyashita|first6=Michio|last7=Kanamaru|first7=Hiroshi|last8=Karasawa|first8=Kensuke|last9=Ayusawa|first9=Mamoru|last10=Fukamizu|first10=Seiji|last11=Nagaoka|first11=Iori|last12=Horie|first12=Minoru|last13=Harada|first13=Kensuke|last14=Hiraoka|first14=Masayasu|title=Association of Atrial Arrhythmia and Sinus Node Dysfunction in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation Journal|volume=71|issue=10|year=2007|pages=1606–1609|issn=1346-9843|doi=10.1253/circj.71.1606}}</ref><ref name="LawrenzKrogmann2013">{{cite journal|last1=Lawrenz|first1=Wolfgang|last2=Krogmann|first2=Otto N.|last3=Wieczorek|first3=Marcus|title=Complex atrial arrhythmias as first manifestation of catecholaminergic polymorphic ventricular tachycardia: an unusual course in a patient with a new mutation in ryanodine receptor type 2 gene|journal=Cardiology in the Young|volume=24|issue=4|year=2013|pages=741–744|issn=1047-9511|doi=10.1017/S1047951113001091}}</ref><ref name="van der WerfNederend2012">{{cite journal|last1=van der Werf|first1=Christian|last2=Nederend|first2=Ineke|last3=Hofman|first3=Nynke|last4=van Geloven|first4=Nan|last5=Ebink|first5=Corné|last6=Frohn-Mulder|first6=Ingrid M.E.|last7=Alings|first7=A. Marco W.|last8=Bosker|first8=Hans A.|last9=Bracke|first9=Frank A.|last10=van den Heuvel|first10=Freek|last11=Waalewijn|first11=Reinier A.|last12=Bikker|first12=Hennie|last13=van Tintelen|first13=J. Peter|last14=Bhuiyan|first14=Zahurul A.|last15=van den Berg|first15=Maarten P.|last16=Wilde|first16=Arthur A.M.|title=Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation: Arrhythmia and Electrophysiology|volume=5|issue=4|year=2012|pages=748–756|issn=1941-3149|doi=10.1161/CIRCEP.112.970517}}</ref><ref name="SyGollob2011">{{cite journal|last1=Sy|first1=Raymond W.|last2=Gollob|first2=Michael H.|last3=Klein|first3=George J.|last4=Yee|first4=Raymond|last5=Skanes|first5=Allan C.|last6=Gula|first6=Lorne J.|last7=Leong-Sit|first7=Peter|last8=Gow|first8=Robert M.|last9=Green|first9=Martin S.|last10=Birnie|first10=David H.|last11=Krahn|first11=Andrew D.|title=Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia|journal=Heart Rhythm|volume=8|issue=6|year=2011|pages=864–871|issn=15475271|doi=10.1016/j.hrthm.2011.01.048}}</ref><ref name="SumitomoNakamura2010">{{cite journal|last1=Sumitomo|first1=Naokata|last2=Nakamura|first2=Takahiro|last3=Fukuhara|first3=Junji|last4=Nakai|first4=Toshiko|last5=Watanabe|first5=Ichiro|last6=Mugishima|first6=Hideo|last7=Hiraoka|first7=Masayasu|title=Clinical effectiveness of pulmonary vein isolation for arrhythmic events in a patient with catecholaminergic polymorphic ventricular tachycardia|journal=Heart and Vessels|volume=25|issue=5|year=2010|pages=448–452|issn=0910-8327|doi=10.1007/s00380-009-1214-6}}</ref><ref name="Faggionivan der Werf2014">{{cite journal|last1=Faggioni|first1=Michela|last2=van der Werf|first2=Christian|last3=Knollmann|first3=Bjorn C.|title=Sinus node dysfunction in catecholaminergic polymorphic ventricular tachycardia: Risk factor and potential therapeutic target?|journal=Trends in Cardiovascular Medicine|volume=24|issue=7|year=2014|pages=273–278|issn=10501738|doi=10.1016/j.tcm.2014.07.001}}</ref>
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| | |
| ===Exercise Stress Testing===
| |
| *[[CPVT]] is a diagnosis based on reproducing [[ventricular arrhythmias]] during [[exercise stress testing]], [[syncope]] occurring during physical activity and acute emotion, and a history of exercise or emotion-related [[palpitations]] and [[dizziness]] with an absence of structural [[cardiac]] abnormalities.
| |
| *It has been observed that [[arrhythmias]] in [[CPVT]] often appear in a uniform and reproducible pattern that facilitates the recognition of affected patients.<ref name="LeenhardtLucet1995">{{cite journal|last1=Leenhardt|first1=Antoine|last2=Lucet|first2=Vincent|last3=Denjoy|first3=Isabelle|last4=Grau|first4=Francis|last5=Ngoc|first5=Dien Do|last6=Coumel|first6=Philippe|title=Catecholaminergic Polymorphic Ventricular Tachycardia in Children|journal=Circulation|volume=91|issue=5|year=1995|pages=1512–1519|issn=0009-7322|doi=10.1161/01.CIR.91.5.1512}}</ref>
| |
| *[[Exercise Stress Testing]] is the primary [[diagnostic]] test and the most helpful clinical tool in diagnosing [[CPVT]] as it can reproducibly evoke the typical [[ventricular tachycardia]] during acute [[adrenergic]] activation (e.g., exercise, acute emotion).
| |
| *[[Exercise Stress Testing|Exercise testing]] may also be useful to monitor the response to [[beta-blocker]] therapy of affected individuals in reproducible conditions.
| |
| *During [[Exercise Stress Testing|exercise testing]], [[sinus rhythm]] accelerates and beyond a [[heart rate]] of 120-130 [[beats per minute]], isolated and often monomorphic [[Premature ventricular contraction|ventricular premature beats]] ([[Premature ventricular contraction|VPBs]]) typically occur first and then increase with [[heart rate]] to [[quadrigeminy]], [[trigeminy]], and [[Bigeminal rhythm|bigeminy]].
| |
| *Subsequently, the [[Premature ventricular contraction|VPBs]] become polymorphic, and as the exercise increase, they form bursts of non-sustained [[polymorphic ventricular tachycardia]] ([[VT]]).
| |
| *If the activity is stopped, the [[arrhythmia]] disappears in the reverse order without clinical symptoms.
| |
| *However, when the activity is continued, the [[arrhythmia]] persists and becomes more rapid, eventually assuming the appearance of [[polymorphic ventricular tachycardia]] ([[VT]]), which is very fast, [[fibrillation]]-like and leads to [[syncope]].
| |
| * Of note, in a subset of patients the [[ventricular arrhythmias]] already disappear with ongoing exercise.<ref name="FaggioniHwang2013">{{cite journal|last1=Faggioni|first1=Michela|last2=Hwang|first2=Hyun Seok|last3=van der Werf|first3=Christian|last4=Nederend|first4=Ineke|last5=Kannankeril|first5=Prince J.|last6=Wilde|first6=Arthur A.M.|last7=Knollmann|first7=Björn C.|title=Accelerated Sinus Rhythm Prevents Catecholaminergic Polymorphic Ventricular Tachycardia in Mice and in Patients|journal=Circulation Research|volume=112|issue=4|year=2013|pages=689–697|issn=0009-7330|doi=10.1161/CIRCRESAHA.111.300076}}</ref>
| |
| * Another type of [[Polymorphic ventricular tachycardia|polymorphic VT]] observed in [[CPVT]] patients are the bidirectional [[VT]], which is a peculiar form of [[polymorphic ventricular tachycardia|polymorphic VT]] characterized by 180° rotation of the [[QRS]] complex from beat to beat.
| |
| *The occurrence of a bidirectional [[ventricular tachycardia]] ([[VT]]), which is the hallmark sign of [[CPVT]] is highly [[specificty|specific]] but not present in all patients.
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| *The bidirectional [[VT]] seen in [[CPVT]] are thought to originate from the [[His-Purkinje system]] from the alternating activation of the [[purkinje fibers]] of the two [[ventricles]].<ref name="CerroneNoujaim2007">{{cite journal|last1=Cerrone|first1=Marina|last2=Noujaim|first2=Sami F.|last3=Tolkacheva|first3=Elena G.|last4=Talkachou|first4=Arkadzi|last5=O’Connell|first5=Ryan|last6=Berenfeld|first6=Omer|last7=Anumonwo|first7=Justus|last8=Pandit|first8=Sandeep V.|last9=Vikstrom|first9=Karen|last10=Napolitano|first10=Carlo|last11=Priori|first11=Silvia G.|last12=Jalife|first12=José|title=Arrhythmogenic Mechanisms in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation Research|volume=101|issue=10|year=2007|pages=1039–1048|issn=0009-7330|doi=10.1161/CIRCRESAHA.107.148064}}</ref><ref name="HerronMilstein2010">{{cite journal|last1=Herron|first1=Todd J.|last2=Milstein|first2=Michelle L.|last3=Anumonwo|first3=Justus|last4=Priori|first4=Silvia G.|last5=Jalife|first5=José|title=Purkinje cell calcium dysregulation is the cellular mechanism that underlies catecholaminergic polymorphic ventricular tachycardia|journal=Heart Rhythm|volume=7|issue=8|year=2010|pages=1122–1128|issn=15475271|doi=10.1016/j.hrthm.2010.06.010}}</ref><ref name="CerroneColombi2005">{{cite journal|last1=Cerrone|first1=Marina|last2=Colombi|first2=Barbara|last3=Santoro|first3=Massimo|last4=di Barletta|first4=Marina Raffaele|last5=Scelsi|first5=Mario|last6=Villani|first6=Laura|last7=Napolitano|first7=Carlo|last8=Priori|first8=Silvia G|title=Bidirectional Ventricular Tachycardia and Fibrillation Elicited in a Knock-In Mouse Model Carrier of a Mutation in the Cardiac Ryanodine Receptor|journal=Circulation Research|volume=96|issue=10|year=2005|issn=0009-7330|doi=10.1161/01.RES.0000169067.51055.72}}</ref>
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| {{familytree/start}}<nowiki>{{familytree | | | | | | | | | A01 | | | | | |A01=[[Exercise stress testing]]}}
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| {{familytree | | | | | | | | | |!| | | | | | | | }}
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| {{familytree | | | | | | | | | B01 | | | | | |B01=[[Increase in sinus rhythm]]}}
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| {{familytree | | | | | | | | | |!| | | | | | | | }}
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| {{familytree | | | | | | | | | C01 | | | | | |C01=Monomorphic [[premature ventricular contractions]] ([[PVC]]s)}}
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| {{familytree | | |,|-|-|-|-|-|-|^|-|-|-|-|-|-|.| }}
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| {{familytree | | D01 | | | | | | | | | | | |D02|D01=Polymorphic [[Premature ventricular contraction|PVC]] [[bigeminy]]|D02=Bidirectional [[Premature ventricular contraction|PVC]] [[bigeminy]]}}
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| {{familytree | | |!| | | | | | | | | | | | | |!| }}
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| {{familytree | | E01 | | | | | | | | | | | |E02|E01=Polymorphic VT|E02=Bidirectional VT}}
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| {{familytree/end}}
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| ==References==
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| {{reflist|2}}
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| [[Electrocardiography]]
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| [[Category:Cardiology]] | | [[Category:Cardiology]] |