Epidemiological and clinical analyses of hypertrophic cardiomyopathy

Advithi Rangaraju, Narasimhan Calambur, Pratibha Nallari

Pdf Page Numbers :- 9-16

Advithi Rangaraju^1,2,*, Narasimhan Calambur³ and Pratibha Nallari^2,*

¹Department of Genetics, KIMS Foundation and Research Center, Minister’s Road, Secunderabad-500 003, Telangana, India

²Department of Genetics, Osmania University, Jamia Osmania, Hyderabad, Telangana, India

³Cardiologist, CARE Hospitals, Hyderabad, Telangana, India

*Corresponding authors: Dr. Advithi Rangaraju, Department of Genetics, KIMS Foundation and Research Center, Minister’s Road, Secunderabad-500 003, Telangana, India. Email: advithi.rangaraju@gmail.com and Dr. Pratibha Nallari, Professor and Chairperson BOS, Department of Genetics, Osmania University, Hyderabad, Telangana, India. Email: prathinallari@yahoo.com.

Received 25 September 2014; Revised 9 December 2014; Accepted 23 December 2014; ; Published 30 December 2014

Citation: Advithi Rangaraju, Narasimhan Calambur, Pratibha Nallari. Epidemiological and clinical analyses of hypertrophic cardiomyopathy. J Med Sci Res 2015; 3(1):9-16. DOI:http://dx.doi.org/10.17727/JMSR.2015/3-002

Copyright: © 2015 Advithi Rangaraju, et al. Published by KIMS Foundation and Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Abstract

 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 4^th decade and hence is considered to be a 4^th 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