The Genetics of Hypertrophic Cardiomyopathy

Excerpt

Hypertrophic cardiomyopathy is unusual among primary cardiac diseases in that it frequently shows a familial pattern of occurrence (1-11). That hypertrophic cardiomyopathy could be genetically transmitted was noted by Teare (12) in his initial description of the disease in 1958. This observation was followed by several early reports of single pedigrees in which clinically overt hypertrophic cardiomyopathy was identified in subsequent generations in a pattern consistent with autosomal dominant inheritance (13-23). Other clinical studies in the 1960s showed hypertrophic cardiomyopathy to be familial in about one third of cases (1-3), whereas the remaining two thirds appeared to be sporadic—that is,