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Researchers from the Institute for Stem Cell Science and Regenerative Medicine (inStem) found that individuals from South India are more susceptible to Hypertrophic Cardiomyopathy (HCM), a serious condition where the heart muscle thickens, often leading to heart failure and sudden cardiac death. The research, published in the prestigious Journal of the American Heart Association, examined the gene sequences of a large cohort of HCM patients from South Indian populations. The patients were recruited in collaboration with major cardiology centres, including the city's Sri Jayadeva Institute of Cardiovascular Sciences and Research. The study initially recruited 1,558 unrelated South Indian patients with various cardiomyopathies, with the final genetic analysis being performed on the cohort of 335 primary HCM patients. Harmful genetic mutations Researchers discovered thousands of harmful genetic mutations. This genetic landscape is strikingly different from what is typically seen in European and American populations. Interestingly, Indian patients displayed fewer mutations in the commonly established, frequently affected genes (MYBPC3 and MYH7), but showed a greater variation in other genes like MYH6, which were previously considered less important. This unexpected genetic profile challenges long-held assumptions and underscores the importance of Indian-specific cardiovascular medicine research. This discovery not only reshapes the understanding of HCM among Indians but also has crucial implications for the future of cardiac care in the country. It will allow clinicians to more precisely diagnose the risk for sudden cardiac deaths and emphasises the need for comprehensive screening, particularly for young adults. Dr Perundurai S Dhandapany, Associate Professor at BRIC-inStem and the corresponding author of the paper, said: "It opens the door to study other genetic conditions where Indians have unique genetic signatures and enables a better, inclusive screening programme for sudden cardiac deaths." This research is poised to be a game-changer for personalised medicine in India. By identifying these unique genetic mutations, clinicians can now develop targeted diagnostic tests and treatments for South Indian patients, leading to earlier detection and better clinical outcomes, he added.