Andersen-Tawil syndrome natural history, complications and prognosis: Difference between revisions
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===Natural History=== | ===Natural History=== | ||
*The symptoms of [[Andersen-Tawil syndrome]] usually develop in the first decade of life, and start with [[symptoms]] such as episodic [[flaccid]] [[muscle]] weakness, [[ventricular arrhythmias]] and [[prolonged QT interval]].<ref name="pmid8080508">{{cite journal| author=Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C | display-authors=etal| title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. | journal=Ann Neurol | year= 1994 | volume= 35 | issue= 3 | pages= 326-30 | pmid=8080508 | doi=10.1002/ana.410350313 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8080508 }}</ref><ref name="pmid9307251">{{cite journal| author=Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S | display-authors=etal| title=Andersen's syndrome: a distinct periodic paralysis. | journal=Ann Neurol | year= 1997 | volume= 42 | issue= 3 | pages= 305-12 | pmid=9307251 | doi=10.1002/ana.410420306 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9307251 }}</ref> | *The [[symptoms]] of [[Andersen-Tawil syndrome]] usually develop in the first decade of life, and start with [[symptoms]] such as episodic [[flaccid]] [[muscle]] weakness, [[ventricular arrhythmias]] and [[prolonged QT interval]].<ref name="pmid8080508">{{cite journal| author=Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C | display-authors=etal| title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. | journal=Ann Neurol | year= 1994 | volume= 35 | issue= 3 | pages= 326-30 | pmid=8080508 | doi=10.1002/ana.410350313 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8080508 }}</ref><ref name="pmid9307251">{{cite journal| author=Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S | display-authors=etal| title=Andersen's syndrome: a distinct periodic paralysis. | journal=Ann Neurol | year= 1997 | volume= 42 | issue= 3 | pages= 305-12 | pmid=9307251 | doi=10.1002/ana.410420306 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9307251 }}</ref> | ||
*If left untreated, patients with [[Andersen-Tawil syndrome]] may progress to develop [[Cardiac arrhythmia|cardiac arrhythmias]] and can lead to the death of the patient. | *If left untreated, patients with [[Andersen-Tawil syndrome]] may progress to develop [[Cardiac arrhythmia|cardiac arrhythmias]] and can lead to the death of the patient. | ||
===Complications=== | ===Complications=== | ||
*Common complications of [[Andersen-Tawil syndrome]] include:<ref name="pmid24861851">{{cite journal| author=Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P | display-authors=etal| title=Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. | journal=Muscle Nerve | year= 2015 | volume= 51 | issue= 2 | pages= 192-6 | pmid=24861851 | doi=10.1002/mus.24293 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24861851 }}</ref><ref name="pmid24047492">{{cite journal| author=Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P| title=Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. | journal=Ann Noninvasive Electrocardiol | year= 2013 | volume= 18 | issue= 5 | pages= 471-8 | pmid=24047492 | doi=10.1111/anec.12074 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24047492 }}</ref><ref name="pmid17221872">{{cite journal| author=Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T | display-authors=etal| title=Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. | journal=Hum Mutat | year= 2007 | volume= 28 | issue= 2 | pages= 208 | pmid=17221872 | doi=10.1002/humu.9483 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17221872 }}</ref><ref name="pmid17272325">{{cite journal| author=Peters S, Schulze-Bahr E, Etheridge SP, Tristani-Firouzi M| title=Sudden cardiac death in Andersen-Tawil syndrome. | journal=Europace | year= 2007 | volume= 9 | issue= 3 | pages= 162-6 | pmid=17272325 | doi=10.1093/europace/eul188 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17272325 }}</ref><ref name="pmid24383070">{{cite journal| author=Nguyen HL, Pieper GH, Wilders R| title=Andersen-Tawil syndrome: clinical and molecular aspects. | journal=Int J Cardiol | year= 2013 | volume= 170 | issue= 1 | pages= 1-16 | pmid=24383070 | doi=10.1016/j.ijcard.2013.10.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24383070 }}</ref><ref name="pmid24827800">{{cite journal| author=Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M| title=Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. | journal=Curr Cardiol Rev | year= 2014 | volume= 10 | issue= 3 | pages= 222-8 | pmid=24827800 | doi=10.2174/1573403x10666140514102528 | pmc=4040873 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24827800 }}</ref> | *Common [[complications]] of [[Andersen-Tawil syndrome]] include:<ref name="pmid24861851">{{cite journal| author=Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P | display-authors=etal| title=Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. | journal=Muscle Nerve | year= 2015 | volume= 51 | issue= 2 | pages= 192-6 | pmid=24861851 | doi=10.1002/mus.24293 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24861851 }}</ref><ref name="pmid24047492">{{cite journal| author=Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P| title=Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. | journal=Ann Noninvasive Electrocardiol | year= 2013 | volume= 18 | issue= 5 | pages= 471-8 | pmid=24047492 | doi=10.1111/anec.12074 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24047492 }}</ref><ref name="pmid17221872">{{cite journal| author=Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T | display-authors=etal| title=Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. | journal=Hum Mutat | year= 2007 | volume= 28 | issue= 2 | pages= 208 | pmid=17221872 | doi=10.1002/humu.9483 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17221872 }}</ref><ref name="pmid17272325">{{cite journal| author=Peters S, Schulze-Bahr E, Etheridge SP, Tristani-Firouzi M| title=Sudden cardiac death in Andersen-Tawil syndrome. | journal=Europace | year= 2007 | volume= 9 | issue= 3 | pages= 162-6 | pmid=17272325 | doi=10.1093/europace/eul188 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17272325 }}</ref><ref name="pmid24383070">{{cite journal| author=Nguyen HL, Pieper GH, Wilders R| title=Andersen-Tawil syndrome: clinical and molecular aspects. | journal=Int J Cardiol | year= 2013 | volume= 170 | issue= 1 | pages= 1-16 | pmid=24383070 | doi=10.1016/j.ijcard.2013.10.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24383070 }}</ref><ref name="pmid24827800">{{cite journal| author=Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M| title=Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. | journal=Curr Cardiol Rev | year= 2014 | volume= 10 | issue= 3 | pages= 222-8 | pmid=24827800 | doi=10.2174/1573403x10666140514102528 | pmc=4040873 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24827800 }}</ref> | ||
**Syncope or presyncopal attacks | **[[Syncope]] or presyncopal attacks | ||
**Exercise-induced nonsustained bidirectional ventricular tachycardia | **Exercise-induced nonsustained bidirectional [[ventricular tachycardia]] | ||
**QT or QU prolongation with polymorphic ventricular tachycardia which are life-threatening | **[[QT interval|QT]] or QU prolongation with [[polymorphic ventricular tachycardia]] which are life-threatening | ||
**Sudden cardiac death | **[[Sudden cardiac death]] | ||
**Neurological or neurocognitive defects | **[[Neurological]] or [[neurocognitive]] defects | ||
===Prognosis=== | ===Prognosis=== | ||
*Prognosis is generally | *[[Prognosis]] is generally range from good to poor, based on the severity of the [[mutation]] on ''[[KCNJ2]] [[gene]].'' | ||
==References== | ==References== | ||
Latest revision as of 14:59, 17 February 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
If left untreated, patients with Andersen-Tawil syndrome may progress to develop periodic paralysis, cardiac arrhythmias and can lead to the death of the patient. Common complications of Andersen-Tawil syndrome include neuromuscular symptoms and malignant hyperthermia. Prognosis is generally range from good to poor.
Natural History, Complications, and Prognosis
Natural History
- The symptoms of Andersen-Tawil syndrome usually develop in the first decade of life, and start with symptoms such as episodic flaccid muscle weakness, ventricular arrhythmias and prolonged QT interval.[1][2]
- If left untreated, patients with Andersen-Tawil syndrome may progress to develop cardiac arrhythmias and can lead to the death of the patient.
Complications
- Common complications of Andersen-Tawil syndrome include:[3][4][5][6][7][8]
- Syncope or presyncopal attacks
- Exercise-induced nonsustained bidirectional ventricular tachycardia
- QT or QU prolongation with polymorphic ventricular tachycardia which are life-threatening
- Sudden cardiac death
- Neurological or neurocognitive defects
Prognosis
- Prognosis is generally range from good to poor, based on the severity of the mutation on KCNJ2 gene.
References
- ↑ Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.
- ↑ Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S; et al. (1997). "Andersen's syndrome: a distinct periodic paralysis". Ann Neurol. 42 (3): 305–12. doi:10.1002/ana.410420306. PMID 9307251.
- ↑ Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P; et al. (2015). "Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement". Muscle Nerve. 51 (2): 192–6. doi:10.1002/mus.24293. PMID 24861851.
- ↑ Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P (2013). "Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome". Ann Noninvasive Electrocardiol. 18 (5): 471–8. doi:10.1111/anec.12074. PMID 24047492.
- ↑ Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T; et al. (2007). "Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome". Hum Mutat. 28 (2): 208. doi:10.1002/humu.9483. PMID 17221872.
- ↑ Peters S, Schulze-Bahr E, Etheridge SP, Tristani-Firouzi M (2007). "Sudden cardiac death in Andersen-Tawil syndrome". Europace. 9 (3): 162–6. doi:10.1093/europace/eul188. PMID 17272325.
- ↑ Nguyen HL, Pieper GH, Wilders R (2013). "Andersen-Tawil syndrome: clinical and molecular aspects". Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.
- ↑ Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M (2014). "Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome". Curr Cardiol Rev. 10 (3): 222–8. doi:10.2174/1573403x10666140514102528. PMC 4040873. PMID 24827800.