Genetic testing has become integral in diagnosing diverse Mendelian cardiovascular diseases, enabling better clinical phenotyping and family screening despite technological limitations.
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Purpose of review The identification of the genetic basis of an increasing number of cardiovascular diseases (CVDs) has substantially expanded the clinical demand for genetic testing. This review summarizes the major groups of genetic CVDs, the current testing strategies, the limitations of available approaches, and future perspectives for improving diagnostic accuracy. Recent findings Growing awareness of genetic CVD has stimulated comprehensive clinical phenotyping, family screening, and the integration of advanced imaging, functional studies, and pathological investigations. This has enabled an unprecedented incorporation of genetics into clinical cardiology, representing one of the most transformative developments in the field. This evolution is occurring within multidisciplinary frameworks, generating a high demand for expertise and technological innovation. Summary 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.
Smirnova et al. (Tue,) reported a other. Genetic testing has become integral in diagnosing diverse Mendelian cardiovascular diseases, enabling better clinical phenotyping and family screening despite technological limitations.