Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population

Abstract

. 2000). It is a primary myocar-dial disease and genetically heterogeneous disorder, char-acterized by progressive systolic dysfunction due to car-diac chamber dilatation and inefficient myocardial contrac-tility. The phenotype in idiopathic/primary DCM (IDCM) ischaracterized by cardiac muscle dysfunction in the absenceof secondary causes and conduction defects such as atrio–ventricular blocks /valvular dysfunction/systemic /skeletalmuscular disorders in ischemic/secondary DCM.Majority of the primary DCM cases are sporadic buta familial transmission (FDCM) is observed in 25%–35%cases, inherited as autosomal dominant/recessiveor X-linkedtrait with variable expressivity and penetrance. Studies haveled to the identification of null and/or missense mutationsin more than 15 different genes coding for sarcomeric, cy-toskeletal, or regulatory proteins as a primary cause of DCM(Olbrich 2001; Murphy