Hypertrophic cardiomyopathy (HCM) affects the health of the heart muscle. The genetic cause of 40-50% of HCM is not known. The mutations responsible for HCM often localized to genes encoding sarcomeric proteins.

In a study published in the journal Nature Scientific Reports, Scientists from MedGenome, Bangalore, India and Amrita Institute of Medical Science and Research, Cochin, India report a rare form of HCM where they have identified mutation in a non-sarcomeric protein PRKAG2.

This study was the first of its kind from India that analysed the inheritance pattern of the mutation in a large number of multigenerational affected members from three unrelated families.

The genetic data obtained helped refine the clinical diagnosis providing a template for personalized treatment applying genomics in the clinic. The families in the study were followed longitudinally for over 7 years to understand the natural history and clinical outcomes of the affected individuals adding to our knowledge of the disease and interventions needed.

Dr Sameer Phalke, Senior Scientist, MedGenome and senior study co-author said, “Genetic testing for HCM diagnosis and screening for risk can now be used routinely for overall disease management.”

He added, “The unique population structure of India makes studies such as this possible.  Familial disease studies in India will create a wealth of knowledge and opportunity to understand many diseases beyond HCM.”

“As far as inherited cardiovascular disease is concerned, it is quite clear that we are now in the era of leveraging the potential of cardiovascular genetic testing for the prompt recognition of potentially life-threatening disease as well as choosing an appropriate management strategy to achieve optimum outcomes in our patients,” said Dr Hisham Ahmed, Clinical Associate Professor of Cardiology at Amrita Institute of Medical Sciences and Research, Kochi,  the lead clinical scientist and senior study co-author.

He further added, “In this study, the judicious use of genetic testing accurately characterised the specific type of cardiomyopathy in each patient and thus led to the rapid identification of a large number of family members who inherited the same disease. This timely recognition led to the systematic risk stratification of the patients and their family members, which allowed them to receive advanced therapy which would protect them from the risk of a potential sudden cardiac death.”