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ISSN: 2155-9880

Journal of Clinical & Experimental Cardiology
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Role of Modifying Genes on the Severity of Rare Mutation of MYH7 Gene in Hypertrophic Obstructive Cardiomyopathy

Amitabh Biswas1, Soumi Das1, Sandeep Seth2, SK Maulik2, Balram Bhargava2 and VR Rao1*
1University of Delhi, Delhi, India
2All India Institute of Medical Sciences (AIIMS), New Delhi, India
Corresponding Author : VR Rao
Professor, Department of Anthropology
University of Delhi, Delhi, India
Tel: +91 11 27667329
Fax: +91 11 27666614
E-mail: [email protected]
Received November 05, 2012; Accepted November 22, 2012; Published November 24, 2012
Citation: Biswas A, Das S, Seth S, Maulik SK, Bhargava B, et al. (2012) Role of Modifying Genes on the Severity of Rare Mutation of MYH7 Gene in Hypertrophic Obstructive Cardiomyopathy. J Clin Exp Cardiolog 3:225. doi:10.4172/2155-9880.1000225
Copyright: © 2012 Biswas A, et al. 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 disorder due to mutations in sacromeric genes with variable penetrance. Hypertrophic Obstructive Cardiomyopathy (HOCM) is a major complication of Hypertrophic Cardiomyopathy. Unexplained hypertrophy in the Left Ventricle (LV) or Intraventricular Septum (IVS) had been the diagnostic criterion for HCM which is more often confirmed by the echocardiography. The frequency of HCM in general population is 1:500 and about 60-70% genetic predisposition is known. It has been observed that mutations in the Cardiac myosin binding proteinC (MYBPC3) gene causes late onset of disease with mild symptoms while mutations in the Beta Myosin Heavy chain (MYH7) gene leads to early onset with severe symptoms. Apart from Epigenetic and Environmental factors, modifier genes further complicate the situation leading to altered clinical outcome even among the same family members having identical mutation.

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