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India-specific cardiogenetic aspects: Focus on cardiomyopathies and inherited arrhythmia syndromes
Priya Chockalingam1, Rajaram Anantharaman2
1Preventive Cardiologist, Cardiac Wellness Institute and Consultant, Centre for Cardiogenetics, Kauvery Hospital, Chennai, India.
Abstract:
India is a land of diversity with its deep evolutionary history, demographic shifts, archaic and recent gene flow events and a high level of endogamy resulting in a unique genetic structure and variation. Yet, very little knowledge exists about population-specific and disease susceptibility variants in the country as Indian populations remain underrepresented in genomic studies. This review article, the final in the Cardiogenetic series, aims to highlight the India-specific knowledge on cardiomyopathies and inherited arrhythmia syndromes, enumerate the best practices and future directions, and emphasize the need for a nationwide database for cardiogenetic diseases. The genotype-phenotype correlations for HCM, DCM, ACM, LQTS, CPVT, sodium channelopathies and sudden cardiac death are outlined while touching upon the growing need for incorporating phenotype-guided genetic testing modalities in the management protocol of affected individuals and their families. The already functioning multidisciplinary cardiogenetic centres with dedicated healthcare teams comprised of cardiologists, electrophysiologists, geneticists, genetic counsellors and specialized nurses could be used as a model to scale-up and establish further facilities across the country and fill the existing gap in meting out comprehensive care to patients and their families.
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