States » SouthPosted at: Nov 6 2026 12:09AM


CCMB scientists identify two rare genetic variants linked to heart failure

Hyderabad, Nov 5 (UNI) Scientists from the CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, have identified two novel and rare genetic variants in the MYH7 gene associated with hypertrophic cardiomyopathy (HCM), a condition that causes abnormal thickening of the heart muscle and can lead to heart failure.
The study was conducted by Dr Kumarasamy Thangaraj and Dr Deepa Selvi Rani of CSIR-CCMB, in collaboration with Dr Pratibha Nallari of Osmania University and Dr Calambur Narasimhan of AIG Hospitals. The findings have been published in the November issue of the Journal of the American College of Cardiology: Asia.
Dr Deepa Selvi Rani analysed the MYH7 gene in 160 HCM patients and 178 healthy individuals from Telangana, identifying 34 genetic variants. Two variants, p.Met684Arg and p.Leu725Pro, were found to be particularly significant and classified as likely pathogenic based on clinical, genetic and structural evidence.
The variants were identified in patients with abnormal thickening of the heart muscle and their affected family members, suggesting age-dependent disease expression. Researchers said the findings could help improve early diagnosis, family screening and management of inherited heart conditions.
CCMB Director Dr Vinay Nandicoori said the study strengthened understanding of the genetic basis of cardiovascular diseases and supported precision diagnosis and population screening to prevent inherited heart diseases in future generations.
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