European Journal of Molecular & Clinical Medicine

Abstract

Cardiovascular genetic diseases include syndromic and non-syndromic congenital structural heart diseases and cardiomyopathies, arrhythmic disorders, vascular disorders in connective tissue diseases, lipid disorders such as familial hypercholesterolemia, storage disorders etc. We aim to discuss spectrum of genetic diseases seen in cardiology practise while performing routine echocardiography and also try to propose and highlight a simple approach to identify such patients to prioritise for genetic testing to aid further management. Out of total 930 patients seen in the OPD (from July 2021 to July 2022), 65 patients were suspected to be affected with genetic disease. Out of these 65, only 25 underwent genetic testing (38%). Amongst these 25 patients, a genetic diagnosis was possible in 11 patients (yield -44%). Authors concluded that lack of suspicion and training, or resources cardiac genetic disorders are often diagnosed late or sometimes never diagnosed and this leads to missed opportunities to treat and prevent recurrences in the same family, either through reproductive counseling or cascade screen of at-risk relatives. As seen, any genetic disorders ranging from chromosomal to single gene defects have characteristic cardiac lesion and a cardiologist doing echocardiography can play a pivotal role in diagnosis. A multidisciplinary approach and basic sensitization of cardiologist when to suspect and refer for genetic work up/testing becomes important for clinical management of all such patients and cascade screening in at-risk relatives.