Applications of genetic testing in cardiovascular disease

Mendelian CVDs include cardiomyopathies, arrhythmias, arteriopathies, primary calcific CVD, pulmonary hypertension, hereditary hemorrhagic telangiectasia, monogenic vasculitides, autoinflammatory disorders, syndromic cardiovascular tumors, and metabolic diseases (hypercholesterolemia and MODY). Mendelian CVDs are complemented by maternally-inherited mitochondrial diseases, characterized by heterogeneous, often syndromic phenotypes with frequent cardiovascular involvement. The genetic testing landscape is rapidly expanding, aiming to provide comprehensive and simplified "all-in-one" solutions while improving accessibility and sustainability. Key challenges remain related to technological limitations, result interpretation, and test completeness, representing major priorities for future development in cardiovascular genetics.