Genetics of Cardiovascular Disease and Applications of Genetic Testing Publisher



Mahdieh N^{1, 2} ; Rabbani B³ ; Maleki M³ Show Affiliations
Source: Practical Cardiology: Principles and Approaches Published:2022

Abstract

Genetic diagnoses especially using single-gene and/or NGS tests are available for inherited cardiovascular diseases. NGS technologies have revolutionized our understanding of the molecular mechanisms of cardiovascular disorders, which provides insights on potential therapies. Cascade screening is recommended when a pathogenic variant is identified in a patient. In the genetic evaluation of a child with a congenital heart defect (CHD), it is a critical step to determine if it is syndromic or isolated CHD. Approximately 30%-50% and 80% of DCM and HCM patients, respectively, have a genetic etiology. Genetic testing in patients with arrhythmias and cardiomyopathies is usually used for confirmation of diagnosis as well as risk for stratification and patient management. © 2022 Elsevier Inc. All rights reserved.