Familial Dilated Cardiomyopathy

Oh, Byung Hee; Kim, Kwang Il; Rhee, Moo Yong; Chae, In Ho; Kim, Hyo Soo; Sohn, Dae Won; Lee, Myoung Mook; Park, Young Bae; Choi, Yun Shik; Lee, Young Woo

Abstract

Dilated cardiomyopathy is a primary myocardial disease characterized by ventricular dilatation and impaired ventricular contractility. It is not a rare disease and the age-adjusted prevalence in the United States is 36 cases per 100,000 population. The etiology of dilated cardiomyopathy has not been known yet, but toxin such as alcohol, thiamine deficiency, endocrine disorder, viral or bacterial infection, hereditary disorder, muscular dystrophy may be related to dilated cardiomyopathy. Familial dilated cardiomyopathy has been considered to be a rare disorder. But in recent study, dilated cardiomyopathy is found to be familial in at least 20%, a considerably higher prevalence than the previous reports. The mode of inheritance in most cases appears to be autosomal dominant, but there are reports of autosomal recessive, X-linked recessive, and mitochondrial inheritance. With molecular genetic technology, genomic abnormality responsible for familial dilated cardiomyopathy is being identified. The detection of responsible geneallows the determination of the gene-carrier status. We report a family with dilated cardiomyopathy, where two patients died suddenly, one patient has symptomatic heart failure, and another two family members have asymptomatic left ventricular dysfunction, identified by echocardiogram.