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Chapter-114 Genetic Evaluation in Hypertrophic Cardiomyopathy

BOOK TITLE: CSI: Cardiology Update 2014

Author
1. Bahl Ajay
ISBN
9789351526186
DOI
10.5005/jp/books/12415_115
Edition
1/e
Publishing Year
2015
Pages
3
Author Affiliations
1. IMA College, Postgraduate Institute of Medical Education and Research, Chandigarh, India, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India, Advance Cardiac Center, Postgraduate Institute of Medical Education and Research, Chandigarh, India, PGI, Chandigarh, India, PGIMER, Chandigarh, India, Postgraduate Institute of Medical, Education and Research (PGIMER), Chandigarh, India
Chapter keywords
Restrictive cardiomyopathy, myosin binding protein C, mutation, MYBPC3, Brugada syndrome

Abstract

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder with incomplete penetrance. It is caused by mutations in sarcomeric genes, which codes for beta-myosin heavy chain (MYH7) and myosin binding protein C (MYBPC3). HCM genotyping help in understanding the role of genotyping in the management of several other cardiovascular disorders. Various problems are associated with genotyping hypertrophic cardiomyopathy. These are presence of multiple mutations, etc. Family screening for all HCM patients may allow early identification of disease. Strategies for screening for first-degree relatives of HCM patients: (i) clinical screening; and (ii) genotyping. Genotyping approach can be used if a pathogenic mutation is found in the proband. Limitations of screening are also discussed.

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