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| {{Search infobox}} | | {{Noncompaction cardiomyopathy}} |
| {{WikiDoc Cardiology Network Infobox}}
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| {{CMG}}
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| __NOTOC__
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| '''Associate Editors-In-Chief:''' {{CZ}}; [[User:KeriShafer|Keri Shafer, M.D.]] [mailto:kshafer@bidmc.harvard.edu]
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| {{Editor Join}} | | {{CMG}}; '''Associate Editors-In-Chief:''' {{CZ}} |
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| ==Overview==
| | '''''Synonyms and keywords:''''' left ventricular noncompaction, LVNC, NCC, spongiform cardiomyopathy, (Isolated) noncompaction of the ventricular myocardium, (I)NVM, non-compaction of the left ventricular myocardium, left ventricular hypertrabeculation, spongy myocardium. |
| '''Non-compaction cardiomyopathy''' (NCC), sometimes known as "spongiform cardiomyopathy" is a rare [[Congenital disorder|congenital]] [[cardiomyopathy]] that affects both children and adults. It refers to a type of cardiomyopathy where the [[myocardium|myocardial development]] is hindered during the early stages of fetal development (the [[embryogenesis]] stage). <ref name= Espinola-Zavaleta >{{Cite journal | last =Espinola-Zavaleta| first =Nilda. | last2 =Soto | first2 =Elena. | last3 =Castellanos| first3 =Luis Munoz | last4 =Játiva-Chávez| first4 =Silvio | last5 =Keirns | first5 =Candace. | title = Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study | journal = Cardiovasc Ultrasound | publisher = Medscape | volume = 4 | issue =1 | pages =| year =2006 | url= http://www.medscape.com/viewarticle/551882_1 | format = webpage | id =}}</ref> <ref name= Oechslin>{{Cite journal | last =Oechslin| first =Erwin | last2 =Jenni | first2 =Rolf | title = Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | journal = | publisher = | volume = | issue =| pages = | year = 2005| url= http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html| format = webpage | id =}}</ref>. It results from the failure of [[myocardium|myocardial]] development during [[embryogenesis]].<ref name= Espinola-Zavaleta >{{Cite journal | last =Espinola-Zavaleta| first =Nilda. | last2 =Soto | first2 =Elena. | last3 =Castellanos| first3 =Luis Munoz | last4 =Játiva-Chávez| first4 =Silvio | last5 =Keirns | first5 =Candace. | title = Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study | journal = Cardiovasc Ultrasound | volume=4 | issue=1 | pages= 35| year=2006 | url=http://www.medscape.com/viewarticle/551882_1 | format= | pmid=17002802 | doi =10.1186/1476-7120-4-35 | pmc =1592122}}</ref><ref name= Oechslin>{{Cite journal | last =Oechslin| first =Erwin | last2 =Jenni | first2 =Rolf | title = Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | journal = | publisher = | volume = | issue =| pages = | year = 2005| url= http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html| format = webpage | id = | accessdate =2007-06-13 |archiveurl = http://web.archive.org/web/20070929131905/http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html <!-- Bot retrieved archive --> |archivedate = 2007-09-29}}</ref> | |
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| ==Pathophysiology== | | ==[[Noncompaction cardiomyopathy overview|Overview]]== |
| During development, the majority of the heart muscle is a sponge-like meshwork of interwoven myocardial fibers. As normal development progresses, these trabeculated structures undergo significant compaction that transforms them from spongy to solid. This process is particularly apparent in the [[ventricles of the heart|[[ventricle]]s]], and particularly so in the [[left ventricle]]. Noncompaction cardiomyopathy results when there is failure of this process of compaction. Because the consequence of non-compaction is particularly evident in the left ventricle, the condition is also called '''left ventricular noncompaction'''. Other hypotheses and models have been proposed, none of which is as widely accepted as the noncompaction model.
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| This abnormality in development begins to occur around the 8 week mark during fetal development. The [[myocardium]] at this period of development is often referred to looking like a sponge as it is still a meshwork of interwoven myocardial fibers. This is beneficial at this stage as there is an increased surface area which allows perfusion of the myocardium from the left ventricular cavity. However as the [[Embryo#The human embryo|embryo]] grows the myocardium should begin to be compact, in the case of NCC though the [[heart]] fails to fully compact leaving the myocardium to still have a spongy form. Non-compaction Cardiomyopathy can affect both ventricle walls of the [[heart]] separately or together however it generally only affects the left [[ventricle]] wall and therefore is sometimes known as left ventricular noncompaction.
| | ==[[Noncompaction cardiomyopathy historical perspective|Historical Perspective]]== |
| | ==[[Noncompaction cardiomyopathy classification|Classification System and Nomenclature]]== |
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| Symptoms can range however are often a result of a poor pumping performance by the heart. The disease can be associated with other problems with the heart and other organs.
| | ==Pathophysiology== |
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| Noncompaction of ventricular myocardium was recently included in the 2006 classification of [[cardiomyopathy|cardiomyopathies]] as a genetic cardiomyopathy <ref name= AHA>{{Cite journal | last =Maron| first =Barry. | last2 =Towbin | first2 =Jeffrey. | last3 =Thiene| first3 =Gaetano | last4 =Antzelevitch| first4 =Charles | last5 =Corrado| first5 =Domenico. | title = Contemporary Definitions and Classification of the Cardiomyopathies | journal = American Heart Association Journals | publisher = American Heart Association t | volume = 113 | issue =14 | pages =| year =2006 | url= http://circ.ahajournals.org/cgi/content/full/113/14/1807| format = webpage | id = 113:1807-1816}}</ref>.
| | [[Noncompaction cardiomyopathy embryology|Embryology]] | [[Noncompaction cardiomyopathy histology|Histology]] | [[Noncompaction cardiomyopathy genetics|Genetics]] | [[Noncompaction cardiomyopathy left ventricular dysfunction|Left ventricular dysfunction]] | [[Noncompaction cardiomyopathy thromboembolism|Thromboembolism]] | [[Noncompaction cardiomyopathy neuromuscular disorders|Neuromuscular disorders]] |
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| ==Epidemiology== | | ==[[Noncompaction cardiomyopathy epidemiology and demographics|Epidemiology and Demographics]]== |
| Due to its recent discovery as a diagnostic entity and the fact that has been unclassified as a [[cardiomyopathy]] according to the [[WHO]], the incidence of the condition is not well characterized. Some reports suggest an incidence of approximately 0.12 cases per 100,000. This number may be an underestimation of the true percentage, as it only represents those patients with severe symptoms that have come to medical attention.
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| ==Diagnosis== | | ==[[Noncompaction cardiomyopathy screening|Screening]]== |
| ===Symptoms===
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| Subjects symptoms from non-compaction cardiomyopathy range widely. It is possible to be diagnosed with the condition, yet not to suffer from any of the symptoms associated with heart disease <ref name= Espinola-Zavaleta >{{Cite journal | last =Espinola-Zavaleta| first =Nilda. | last2 =Soto | first2 =Elena. | last3 =Castellanos| first3 =Luis Munoz | last4 =Játiva-Chávez| first4 =Silvio | last5 =Keirns | first5 =Candace. | title = Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study | journal = Cardiovasc Ultrasound | publisher = Medscape | volume = 4 | issue =1 | pages =| year =[[2006]] | url= http://www.medscape.com/viewarticle/551882_1 | format = webpage | id =}}</ref>. Likewise it possible to suffer from severe [[heart failure]] <ref name= Oechslin>{{Cite journal | last =Oechslin| first =Erwin | last2 =Jenni | first2 =Rolf | title = Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | journal = | publisher = | volume = | issue =| pages = | year =| url= http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html| format = webpage | id =}}</ref>, which even though the condition is present from birth, may only manifest itself later in life.<ref name= Espinola-Zavaleta>. Differences in symptoms between adults and children are also prevalent with adults more likely to suffer from heart failure and children from depression of systolic function. <ref name= Espinola-Zavaleta>
| | ==[[Noncompaction_cardiomyopathy_natural_history|Natural History, Complications & Prognosis]]== |
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| Common symptoms though associated with a reduced pumping performance of the heart are<ref>{{cite web |url= http:// http://www.cardiomyopathy.org/index.php?id=274
| | ==[[Noncompaction_cardiomyopathy_differential diagnosis|Differentiating Noncompaction Cardiomyopathy from other Diseases]]== |
| |title= LV Non-compaction
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| |author= The Cardiomyopathy Association
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| |date=2007-July-23
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| | format = website
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| }}</ref>
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| * Shortness of breath and [[dyspnea on exertion]] ([[DOE]])
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| * [[Fatigue]]
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| * [[Pedal edema]] or swelling of the ankles
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| * Limited physical capacity and exercise intolerance
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| ===Echocardiography===
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| The ratio of compacted to non-compacted myoacardium may very at various developmental stages and ages. Non-compaction cardiomyopathy is characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. Major clinical correlates include systolic and diastolic dysfunction, associated at times with systemic embolic events. <ref>Weiford BC, Subbarao VD, Mulhern KM, Noncompaction of the ventricular myocardium. Circulation 109 (24): 2965-71 2004</ref> On echocardiography the left ventricular wall is thick with a two layered appearance. The epicardial layer is compacted and thin and the endocardial layer is non-compacted and thick. The ratio of the non-compacted endocardial layer to the epicardial layer is > 2.
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| ==== Images ====
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| <div align="left">
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| <gallery heights="275" widths="275">
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| Image:Cardiovasc Ultrasound LVNC 1.jpg|''Two-dimensional apical four chamber and parasternal short axis images at the level of the ventricles show dilatation of both ventricles, multiple trabeculae and intertrabecular recesses in inferior, lateral, anterior walls, middle and apical portions of the septum and apex of the left ventricle.'' [http://www.medscape.com/viewarticle/551882_1]
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| Image:Cardiovasc Ultrasound LVNC 2.jpg|''Transthoracic two-dimensional study with color and continuous wave Doppler shows left ventricular noncompaction associated with patent ductus arteriosus (PDA).'' [http://www.medscape.com/viewarticle/551882_1]
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| </gallery>
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| </div>
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| <div align="left">
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| <gallery heights="275" widths="275">
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| Image:Cardiovasc Ultrasound LVNC 3.jpg|''Transthoracic two-dimensional echocardiogram in apical four chamber and parasternal short axis at the level of both ventricles demonstrate dilatation, deep trabeculae and intertrabecular recesses in the inferior, lateral, anterior walls, middle and apical portions of the septum and apex of the left ventricle.'' [http://www.medscape.com/viewarticle/551882_1]
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| Image:Cardiovasc Ultrasound LVNC 4.jpg|''Two-dimensional parasternal and color Doppler images at the level of both ventricles that show the noncompacted:compacted wall ratio and how the color enters the intertrabecular recesses'' [http://www.medscape.com/viewarticle/551882_1]
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| </gallery>
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| </div>
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| ===Misdiagnosis===
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| In a recent study <ref name= Espinola-Zavaleta >{{Cite journal | last =Espinola-Zavaleta| first =Nilda. | last2 =Soto | first2 =Elena. | last3 =Castellanos| first3 =Luis Munoz | last4 =Játiva-Chávez| first4 =Silvio | last5 =Keirns | first5 =Candace. | title = Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study | journal = Cardiovasc Ultrasound | publisher = Medscape | volume = 4 | issue =1 | pages =| year =[[2006]] | url= http://www.medscape.com/viewarticle/551882_1 | format = webpage | id =}}</ref> of 53 patients with non-compaction cardiomyopathy, the first 42 were misdiagnosed with another form of heart disease. Improved awareness and improved imaging modalities allowed the correct diagnosis to be made in the last 11 cases. The most common misdiagnoses included:
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| * [[Dilated cardiomyopathy]]: 30 Cases
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| * [[Congenital heart disease]]: 6 Cases
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| * [[Ischemic heart disease]]: 2 Cases
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| * Disease of the heart valves: 2 Cases
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| * Dilated phase hypertensive cardiomyopathy: 1 Case
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| * [[Restrictive cardiomyopathy]]: 1 Case
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| The high number of misdiagnosis can be attributed due to non-compaction [[cardiomyopathy]] only being first reported in 1990, and so diagnosis is often overlooked or delayed. Advances in medical imaging equipment (Echo and MRI) has made it easier to diagnosis NCC.
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| ==Complications of NCC==
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| The presence of NCC can also lead to other complications around the heart and in other organs. These are not necessarily common complications and no paper has yet to document the incidence of these complicationcs.
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| *Heart Related
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| ** Abnormalities of the origin of the [[left coronary artery]]
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| ** [[Pulmonary atresia]]
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| ** [[Stenosis]]
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| ** Right or Left ventricle obstruction
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| ** [[Hypoplastic left heart syndrome|Hypoplastic left ventricle]]
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| ** [[Mitral regurgitation]]
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| ** [[Tachyarrhythmias]] and [[sudden cardiac death]]
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| ** Thrombus in the [[left ventricle]]
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| *Neuromuscular (Pertaining to both nerves and muscles)
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| ** [[Becker's muscular dystrophy]]
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| ** [[Mitochondrial myopathy]]
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| ** [[Myopathy|Polyneuropathy and metabolic myopathy]]
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| *Genetic related
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| ** [[Emery-Dreifuss muscular dystrophy]]
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| ** [[Muscular dystrophy|Myotubular cardiomyopathy]]
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| ** [[Barth syndrome]]
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| | | ==Diagnosis== |
| ==Prognosis== | | [[Noncompaction cardiomyopathy history and symptoms|History & Symptoms]] | [[Noncompaction cardiomyopathy physical examination|Physical Examination]] | [[Noncompaction cardiomyopathy laboratory studies|Laboratory Studies]] | [[Noncompaction cardiomyopathy genetic testing|Genetic Testing]] | |
| | | [[Noncompaction cardiomyopathy electrocardiogram|Electrocardiogram]] | [[Noncompaction cardiomyopathy chest x ray|Chest X Ray]] | [[Noncompaction cardiomyopathy echocardiography or ultrasound|Echocardiography]] | [[Noncompaction cardiomyopathy MRI|MRI]] | [[Noncompaction cardiomyopathy CT|CT]] | [[Noncompaction cardiomyopathy other diagnostic studies|Biopsy]] |
| Due to non-compaction cardiomyopathy being a relatively new disease in terms of understanding it's impact on the human life expectancy is not very well understood. In a 2005 study <ref name= Oechslin>{{Cite journal | last =Oechslin| first =Erwin | last2 =Jenni | first2 =Rolf | title = Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | journal = | publisher = | volume = | issue =| pages = | year = 2005| url= http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html| format = webpage | id =}}</ref> which documented the long term follow up of 34 patients with NCC, 35% had died at the age of 42 +/- 40 months with a further 12% having to under go a heart transplant due to heart failure. However, this study was based upon symptomatic patients referred to a tertiary care center, and so were suffering from more severe forms of NCC than might be found typically in the population. As NCC is a genetic disease, as a precaution immediate family members are being tested which is turning up more supposedly healthy people with NCC who are not suffering from it. The long term prognosis for these people is currently unknown.
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| ==Management== | | ==Management== |
| The management of NCC is similar to that of other cardiomyopathies and includes the use of [[angiotensin-converting enzyme|ACE inhibitors]], [[Beta blocker|beta blockers]] and [[aspirin]]. Implantation of an [[automatic internal cardiac defibrillator]] [[AICD]] may be appropriate in patients who are deemed to be at increased risk of [[sudden cardiac death]]. A small study from the Netherlands identified young females with [[premature ventricular contractions]] ([[PVCs]]) at risk of [[sudden death]]<ref>[http://spo.escardio.org/eslides/view.aspx?eevtid=33&fp=4147]</ref>.
| | [[Noncompaction cardiomyopathy medical therapy|Medical Therapy]] | [[Noncompaction cardiomyopathy surgery|Surgery]] |
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| In severe NCC cases, in which severe [[heart failure]] has developed, a [[heart transplant]] may be necessary.
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| ==Source==
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| *{{cite web | title=Left Ventriuclar noncompaction| work=Orphanet| url=http://www.orpha.net/data/patho/GB/uk-LVNC.pdf}}
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| ==See also== | | ==See also== |
| | [[Cardiomyopathy]], [[Barth syndrome]], [[Emery-Dreifuss muscular dystrophy]], [[myotubular myopathy]], genes responsible for NCC are located also in the area that cause these conditions. |
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| [[Barth syndrome]], [[Emery-Dreifuss muscular dystrophy]], [[myotubular myopathy]], genes responsible for NCC are located also in the area that cause these conditions.
| | {{Circulatory system pathology}} |
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| ==Links==
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| *[http://www.antibodypatterns.com/cardiacmuscle.php Autoantibody causing cardiac damage]
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| *[http://www.ii.bham.ac.uk/clinicalimmunology/CISimagelibrary/myocardial_Ab.htm Myocardial antibody]
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| *[http://www.cardiovascularmri.com/case_studies.aspx?CaseStudyID=30 MRI video of heart with NCC]
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| ==References==
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| {{Reflist|2}} | |
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| ==Additional Resources==
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| *{{cite web | title=Non-compaction of Myocardium Cardiomyopathy| work=Yale University | url=http://www.med.yale.edu/intmed/cardio/chd/e_noncompact/index.html}}
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| *{{cite web | title=Cardiomyopathy Caused by Isolated Noncompaction of the Left Ventricle in Adults| work=Medscape Cardiology | url=http://www.medscape.com/viewarticle/420937}}
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| *{{cite web | title=Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study| work=Medscape Cardiology | url=http://www.medscape.com/viewarticle/551882_1}}
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| *{{cite web | title=Left Ventricular Non-compaction | work=Baylor College of Medicine| url=http://www.bcm.edu/pediatrics/index.cfm?realm=99992426&This_Template=LVNC}}
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| *{{cite web | title=Contemporary Definitions and Classification of the Cardiomyopathies| work=American Heart Association Scientific Statement | url=http://circ.ahajournals.org/cgi/content/full/113/14/1807}}
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| *{{cite web | title=The Failing Heart| work=Nature | url=http://www.nature.com/nature/journal/v415/n6868/full/415227a.html}}
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| *{{cite web | title=Noncompaction of the left ventricle: a new cardiomyopathy is presented to the clinician | work=Sao Paulo Medical Journal | url=http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802006000100007}}
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| *{{cite web | title=Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease | work=Touch Cardiology | url=http://www.touchcardiology.com/compaction-left-ventricular-myocardium-a352-3.html}}
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| {{Circulatory system pathology}}
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