Noncompaction cardiomyopathy
| Noncompaction cardiomyopathy |
|
Noncompaction Cardiomyopathy Microchapters |
|
Pathophysiology |
|---|
|
Differentiating Noncompaction Cardiomyopathy from other Diseases |
|
Diagnosis |
|
Treatment |
|
Noncompaction cardiomyopathy On the Web |
|
Risk calculators and risk factors for Noncompaction cardiomyopathy |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editors-In-Chief: Cafer Zorkun, M.D., Ph.D. [3]
Synonyms and keywords: NCC, spongiform cardiomyopathy
Overview
Pathophysiology
Epidemiology
Diagnosis
Symptoms
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 [1]. Likewise it possible to suffer from severe heart failure [2], which even though the condition is present from birth, may only manifest itself later in life.
- Shortness of breath and dyspnea on exertion (DOE)
- Fatigue
- Pedal edema or swelling of the ankles
- Limited physical capacity and exercise intolerance
Echocardiography
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. [3] 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.
Misdiagnosis
In a recent study [1] 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:
- Dilated cardiomyopathy: 30 Cases
- Congenital heart disease: 6 Cases
- Ischemic heart disease: 2 Cases
- Disease of the heart valves: 2 Cases
- Dilated phase hypertensive cardiomyopathy: 1 Case
- Restrictive cardiomyopathy: 1 Case
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.
Complications of NCC
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.
- Heart Related
- Abnormalities of the origin of the left coronary artery
- Pulmonary atresia
- Stenosis
- Right or Left ventricle obstruction
- Hypoplastic left ventricle
- Mitral regurgitation
- Tachyarrhythmias and sudden cardiac death
- Thrombus in the left ventricle
- Neuromuscular (Pertaining to both nerves and muscles)
- Genetic related
Prognosis
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 [2] 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.
Management
The management of NCC is similar to that of other cardiomyopathies and includes the use of ACE inhibitors, 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[4].
In severe NCC cases, in which severe heart failure has developed, a heart transplant may be necessary.
Source
- "Left Ventriuclar noncompaction" (PDF). Orphanet.
See also
Barth syndrome, Emery-Dreifuss muscular dystrophy, myotubular myopathy, genes responsible for NCC are located also in the area that cause these conditions.
References
- ↑ 1.0 1.1 Espinola-Zavaleta, Nilda.; Soto, Elena.; Castellanos, Luis Munoz; Játiva-Chávez, Silvio; Keirns, Candace. (2006). "Non-compacted Cardiomyopathy: Clinical-Echocardiographic Study" (webpage). Cardiovasc Ultrasound. Medscape. 4 (1). Check date values in:
|year=(help) - ↑ 2.0 2.1 Oechslin, Erwin; Jenni, Rolf. "Non-compaction of the Left Ventricular Myocardium - From Clinical Observation to the Discovery of a New Disease" (webpage).
- ↑ Weiford BC, Subbarao VD, Mulhern KM, Noncompaction of the ventricular myocardium. Circulation 109 (24): 2965-71 2004
- ↑ [1]
Additional Resources
- "Left Ventricular Non-compaction". Baylor College of Medicine.
- "Contemporary Definitions and Classification of the Cardiomyopathies". American Heart Association Scientific Statement.