Hypertrophic cardiomyopathy - repealing tenets in South Africa

Summary Hypertrophic cardiomyopathy (HCM), a common pri­ mary cardiac disorder with an increased risk of sudden death, affects all population groups in South Africa. Distinct causal mutations in multiple sarcomeric pro­ tein-encoding genes correlate with the risk of sudden death. Such genotype/phenotype correlations cannot be extrapolated geographically or ethnically, necessitating the generation of South African-specific data. We used DNA-based techniques to search for the causal mutations in a panel of South African HCM­ affected subjects '(37 with unequivocal HCM, 47 with HCM-Iike disease). 'Mutations:detected were traced in family members and carriers assessed by echocardiogra­ phy and electrocardiography .. Nine different HCM-causing mutations (5 unique to South Africa, 3 showing a founder effect) were identified in 3 genes in 24 index cases (57% HCM group, 6%