Scope of genetic testing for inherited cardiovascular diseases in the clinical practice

Abstract

Inherited cardiac disorders are clinically and genetically heterogeneous group of disorders where sudden cardiac death is mostly the first clinical presentation. The available clinical markers are insufficient to make an accurate diagnosis, and therefore, molecular genetic diagnostics is an important tool for clinical decision-making. The advancements in technology have tremendously improved the affordability of genetic testing. In India, though genetic testing is being largely applied in the pediatric settings for chromosomal abnormalities and metabolic disorders, it is still at a nascent stage in the cardiology practice. Since cardiomyopathies and channelopathies have become actionable because of new interventional therapies, this article highlights the importance and need of genetic testing for inherited cardiac disorders by practicing cardiologists, in-view of the American College of Medical Genetics, American College of Cardiology, European Heart Rhythm Association guidelines. Incorporating cardiovascular genetic testing in the routine clinical practice can take it forward by greatly improving the scope of disease management.

Keywords

• cardiomyopathies
• channelopathies
• genetic testing
• inherited cardiac disorders
• next-generation sequencing technology