Epidemiology and genetics of hypertrophic cardiomyopathy

Background: Hypertrophic cardiomyopathy (HCM) is a heart muscle and is known to be inherited as an autosomal dominant trait. in several sarcomeric, cytoskeletal and mitochondrial genes been reported in HCM. Though many cases of HCM are being , there is limited data regarding the epidemiology and of HCM in India. Aim: Therefore the present study is at identifying the epidemiological variables in HCM and a probability model assuming dominant mode of inheritance in , which may in turn shed light on the heterogeneity of this complex . Materials AND Methods: The 127 HCM cases were divided into based on pattern of hypertrophy. Chi square analysis, odds , probability, relative frequency, penetrance and heritability were calculated apart from epidemiological variables. : The HCM subtypes revealed the heterogeneous nature of the suggesting that the genes/mutations involved in their are different and this is supported by distinctive observed in their probability, heritability and penetrance apart from epidemiological variables. An increased male was observed with the sex ratio being 3.7:1. The age at was found to be more than a decade early in familial cases (30 ± 10 yrs) compared to non familial cases (44 ± 14 yrs). Chi analysis revealed obstructive HCM to be following autosomal mode of inheritance where as non-obstructive HCM was deviating. The level of deviation was significantly high the middle onset group compared to early and late onset groups, this group may be considered as an admixture wherein /gene modifiers and environmental variables may be contributing to heterogeneity and this is further supported by odds ratio. : The study thus brings out the complexity of HCM and that modes of inheritance other than autosomal dominant may be in a subset of HCM especially in asymmetric septal , apical, concentric and mid cavity obstruction subsets and a mixed model of inheritance is the best fit for such complex .