What Should a Clinical Cardiologist Know About Cardiogenetics?

Abstract

Inherited cardiovascular diseases are becoming increasingly prominent in clinical practice, significantly impacting diagnosis, risk assessment, and family screening strategies. Progress in genetic testing has broadened access to cardiogenetic evaluations, while also presenting new challenges in interpreting variants and incorporating findings into clinical care. This narrative review explores 20 essential questions that clinical cardiologists may face when dealing with suspected or confirmed inherited cardiac conditions. Organized as a practical, question-driven guide, it outlines when to consider a genetic cause, how to choose and interpret genetic tests, and how to manage patients regardless of their genetic test results. The review emphasizes variant classification based on American College of Medical Genetics and Genomics criteria, the importance of clinical context in interpreting uncertain results, and the principles behind family cascade screening. Particular attention is given to the management of relatives who carry a genetic variant but show no symptoms, and to the current limitations of genetic testing technologies (eg, performance). Ethical considerations, including the appropriate timing of testing in children minors, are also discussed. By connecting genetic insights with clinical cardiology, this review aims to support practical, informed decision making and promote effective collaboration with cardiogenetic specialists.

Keywords: cardiogenetics; cardiomyopathies; cascade screening; channelopathies; genetic testing.

Figure 1. Different patterns of inheritance.

A, Autosomal dominant; (B) autosomal recessive; (C) X‐linked recessive; (D) mitochondrial.

Figure 2. Clinical management strategy based on the results of genetic testing.

B indicates benign variant; LB, likely benign variant; LP, likely pathogenetic variant; P, pathogenetic variant; and VUS, variant of uncertain significance.