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https://doi.org/10.17727/jmsr.2015/3-2
Copy DOIPublication Date: Jan 2, 2015 | |
License type: cc-by |
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease characterised by the thickening of the left/right ventricle along with the interventricular septum. It is found in all races and ethnic groups occurring equally in both the sexes with a prevalence of 1 in 500. Incidence and prevalence of HCM appears to decline after adolescence and then increase in middle age, with the highest rates seen after the 4th decade and hence is considered to be a 4th decade disorder. The Indian population exhibits a great range of geographic and genetic diversity along with high levels of inbreeding in comparison to other populations; therefore the present article examined the epidemiological and clinical analyses based on the gender specific differences, age at onset, familial and non-familial status and subtypes of HCM which also contribute to the heterogeneity of the condition making genetic diagnosis and screening much more challenging. The study revealed male preponderance in the age group of 21-40 years exhibiting non-obstructive type of HCM while female preponderance was observed in the age group of 0-20 years and 40-60 years with high incidence of obstructive HCM cases associated with severe clinical manifestations and poor prognosis, based on the significant echocardiographic parameters. This was further substantiated with an early age at onset in females with asymmetric septal type of hypertrophy and in males with mid-cavity concentric hypertrophy enlightening on a strong genetic predisposition. Keywords: Hypertrophic cardiomyopathy; sarcomere and cytoskeletal gene mutations; genetic diagnosis
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