A new study from Bengaluru explains why South Indians may face a higher risk of heart disease, particularly Hypertrophic Cardiomyopathy (HCM), a serious condition that can lead to heart failure or sudden cardiac death. Research from the Institute for Stem Cell Science and Regenerative Medicine (inStem) shows that people of South Indian origin carry distinct harmful genetic mutations that increase their vulnerability to the condition.
The findings, published in the Journal of the American Heart Association, challenge long-held beliefs about heart disease genetics, which have been largely shaped by studies of Western populations.
What Is Hypertrophic Cardiomyopathy?
Hypertrophic Cardiomyopathy (HCM) is a genetic heart disorder affecting an estimated 1 in 200 to 500 people worldwide. It is caused by abnormal thickening of the left ventricle, the heart’s main pumping chamber. This thickening is not linked to other medical conditions, making it difficult to detect without genetic testing.
Most HCM cases are linked to mutations in genes that produce sarcomere proteins, which help the heart muscle contract. Globally, the two most commonly affected genes are MYBPC3 and MYH7, responsible for most confirmed HCM cases. About 5–10% of cases arise from mutations outside the sarcomere pathway.
Why South Indians Are at Higher Risk
The Bengaluru research team analysed genetic samples from 1,558 unrelated South Indian patients, eventually performing detailed sequencing on 335 patients diagnosed with primary HCM. These participants were recruited from major cardiology centres in Madurai, Kozhikode, Bengaluru, and Kochi.
The study found something striking:
- South Indian patients had fewer mutations in the globally common MYBPC3 and MYH7 genes.
- They showed greater variation in genes such as MYH6, which are not usually the focus of global cardiology research.
This means South Indians may have unique genetic risk factors that differ from those in European and American populations, making their condition harder to diagnose with standard genetic panels developed in the West.
Why This Matters for India
According to the researchers, these findings highlight the urgent need for population-specific screening in India. South India’s distinct genetic pattern suggests current diagnostic tools may miss important mutations, leading to underdiagnosis or misdiagnosis.
The study also stresses the importance of more inclusive cardiovascular research, especially in a country as genetically diverse as India. With thousands of harmful genetic mutations identified, the researchers say it is crucial to develop India-focused genetic databases and testing methods.
The discovery that South Indians have unique risk patterns should serve as a wake-up call for the public and healthcare system. Early screening, especially for families with a history of heart disease, can save lives by enabling early treatment and preventive care.
As the researchers put it, understanding genetic differences is not just about scientific curiosity, it is essential to building a future in which heart disease can be accurately diagnosed and effectively treated across every community in India.
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