After two and a half years of research, Dr. C. Anwar A. Chahal, Dr. Ghaith Sharaf Dabbagh, and team of physician scientists have published an original manuscript in the AHA/ASA Journal, CIRCULATION. The topic is the role that genetics plays in indicating when an individual will develop Dilated Cardiomyopathy (DCM).
Abnormal heart rhythm and cardiac conduction disease are the most common early signs of a change in the genetic sequence often preceding DCM, a condition in which the left ventricle, the heart’s main pumping chamber, is enlarged causing the thick muscular walls to stretch and become thin and weak affecting the heart’s ability to pump enough oxygen-rich blood to the body.
“Genetics can help explain the development of DCM,” says Dr. Anwar Chahal. “This is the first study using a ‘gene-first’ approach and reporting penetrance in a healthy population and the risk of developing DCM in all its stages.”
Over 18,000 individuals participated in the study and it was determined that 1 of 6 adults with genetic variants showed early signs with early rhythm disorders and subclinical changes of DCM.
Here is a link to the publication. Frequency, Penetrance, and Variable Expressivity of Dialted Cardiomyopathy – Associated Putative Pathogenic Gene Variants in UK Biobank Participants. https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.121.058143