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Cardiogenetics of Hypertrophic Cardiomyopathy: A Short Review

Ashish K Nayyar , Sambhav Kumar 1 , Ashish K Nayyar 2

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Indian Journal of Genetics and Molecular Research 8(2):p 69-79, July-December 2019. | DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.8219.2

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Sambhav Kumar, Ashish K Nayyar. Cardiogenetics of Hypertrophic Cardiomyopathy: A Short Review. Indian J Genet Mol Res. 2019;8(2):69-79.

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Abstract

Hypertrophic cardiomyopathy is an ’umbrella’ term that encompasses a diverse and complex spectrum of genetic and acquired diseases. It is the most common familial heart disease (1:500) with vast heterogeneity with histological features of myocardial hypertrophy, myofibrillar disarray and interstitial fibrosis. The penetrance is incomplete and is age and gender dependent and has been accepted to be a disease of the sarcomere. Sixty percent of HCM carry mutations in one of eight sarcomere protein genes, mainly MYBPC3 and missense MYH7 variants. It is characterised by thickening of the wall of the heart, predominantly left ventricle (LV) and Inter ventricular septum (IVS). Due to the morphological and pathological heterogeneity of the disease, the appearance and progression of symptoms is not straightforward. Most HCM patients are asymptomatic, but up to 25% develop significant symptoms, including chest pain and sudden cardiac death. Sudden cardiac death is a dramatic event, since it occurs without warning and mainly in younger people, including trained athletes. Molecular diagnosis of HCM is of the outmost importance, since it may allow detection of subjects carrying mutations on HCM-associated genes before development of clinical symptoms of HCM. However, due to the genetic heterogeneity of HCM, molecular diagnosis is difficult. Currently, there are mainly four techniques used for molecular diagnosis of HCM, including Sanger sequencing, high resolution melting, mutation detection using DNA arrays, and next-generation sequencing techniques. Current pharmalogical treatment only focusses on symptom alleviation and prevention of complications. This short review on the current status of HCM highlights the importance of genetic implications and the importance of regenerative medicine to alleviate the gaps, together with new therapeutic drugs and delivery systems.

 

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Sambhav Kumar, Ashish K Nayyar. Cardiogenetics of Hypertrophic Cardiomyopathy: A Short Review. Indian J Genet Mol Res. 2019;8(2):69-79.

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DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.8219.2

Keywords

Hypertrophic cardiomyopathy; Inter ventricular septum (IVS); Left ventricle (LV).

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