[HTML][HTML] Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals

RE Hershberger, A Morales, JD Siegfried - Genetics in Medicine, 2010 - Elsevier
Dilated cardiomyopathy (DCM), usually diagnosed as idiopathic dilated cardiomyopathy
(IDC), has been shown to have a familial basis in 20–35% of cases. Genetic studies in
familial dilated cardiomyopathy (FDC) have shown dramatic locus heterogeneity with
mutations identified in> 30 mostly autosomal genes showing primarily dominant
transmission. Most mutations are private missense, nonsense or short insertion/deletions.
Marked allelic heterogeneity is the rule. Although to date most DCM genetics fits into a …