HYDERABAD: A study of 160 patients with hypertrophic cardiomyopathy (HCM) in Telangana has identified two rare genetic variants in the MYH7 gene, offering insights into the condition’s genetic basis and varying manifestations.
Researchers from CSIR-Centre for Cellular and Molecular Biology (CCMB), Osmania University and AIG Hospitals analysed coding regions of the MYH7 gene in the patients and compared them with 178 ethnically matched healthy controls.
They identified 34 genetic variations, including two novel variants, p.Met684Arg and p.Leu725Pro, in highly conserved regions of the myosin protein, which plays an important role in heart muscle contraction.
The first variant was found in a 52-year-old woman with heart muscle thickening and her 26-year-old son, who had mild thickening. The second was identified in a 58-year-old man with obstructive HCM and a family history of sudden cardiac deaths. His 24-year-old daughter, carrying the same variant, had mild thickening.
CCMB Senior Scientist Dr Kumarasamy Thangaraj said genetic mutations may be present from birth without visible symptoms, with the condition emerging later as the heart changes. Identifying disease-associated mutations before structural changes develop could help doctors begin treatment early, he added.
Family members, particularly children with the same mutation, should undergo monitoring even without significant symptoms, he noted.