Abstract
Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.
Highlights
DCM, which can lead to a prolonged asymptomatic period preceding the development of overt heart failure
This was initially demonstrated by the breakthrough identification of dystrophin, the gene responsible for Duchenne (DMD) and Becker muscular dystrophy (BMD) and the associated skeletal myopathy and DCM, as the gene responsible for the X-linked form of DCM (XLCM) by Towbin and colleagues in 1993.9 defects in the DMD gene could explain only a fraction of all DCM cases; later, other genes responsible for DCM were identified, defining DCM as a genetically heterogeneous entity
These forms include dilated final common pathway hypothesis (1998) in MYH7 (4%), and TNNT2 (3%) being the most cardiomyopathy (DCM), hypertrophic car- which it was suggested that abnormalities in frequently involved in familial DCM, while diomyopathy (HCM), left ventricular non-com- other genes encoding for dystrophin-associat- mutations in all associated sarcomeric genes paction (LVNC), arrhythmogenic right ventric- ed proteins and proteins involved in the struc- cover only up to 10% of all DCM cases.[7] ular cardiomyopathy (ARVC) and restrictive tural formation and maintenance of cardiomy- In addition, genes encoding for ion channels cardiomyopathy (RCM).[1,2,3,4]
Summary
Copy number variation (CNV) probes u using the currently available platforms.[16,17] ial Hypertrophic cardiomyopathy c Hypertrophic cardiomyopathy is one of the r most common genetic disorders with a prevae lence of 1/500, representing the most frequent cause of sudden cardiac death in young m athletes in the United States.[3,4] HCM is characterized by excessive thickening generally limm ited to the left ventricular myocardium and o interventricular septum, in the absence of c insults that increase after load such as aortic - stenosis or hypertension, and morphologically n is typically characterized by myocyte disarray.3-
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