CVDvarianten

CVDVarianten is a term used in medical discourse to describe the diverse genetic, phenotypic and etiological variants that can underlie cardiovascular disease (CVD). It reflects the understanding that cardiovascular conditions are not uniform, but exist along a spectrum with differing inheritance patterns, clinical presentations and prognoses. The concept supports a structured approach to diagnosis, risk assessment and management by acknowledging heterogeneity within CVD.

Genetic variants include inherited cardiomyopathies, arrhythmia syndromes and certain congenital heart diseases caused by mutations in a range of genes. Examples cited in the literature include TTN, LMNA and MYH7 in cardiomyopathy, and PKP2 in arrhythmogenic right ventricular cardiomyopathy. Phenotypic variants refer to differences in presentation within the same condition, such as dilated versus hypertrophic cardiomyopathy or early-onset versus late-onset disease. Etiological variants distinguish underlying causes, including congenital defects, inflammatory or infectious processes, and acquired atherosclerotic disease.

Diagnostic approaches combine clinical assessment with imaging, such as echocardiography and cardiac magnetic resonance, functional testing and laboratory studies. Genetic testing, including gene panels and, in some cases, whole-exome sequencing, plays a central role in identifying pathogenic variants and variants of uncertain significance (VUS). Interpreting these findings relies on professional guidelines and reference databases such as ClinVar and OMIM.

Implications for treatment include variant-informed risk stratification and personalized management. This can involve standard cardiovascular therapies, device-based strategies for arrhythmia or heart failure, lifestyle modification, and targeted family screening with genetic counseling. The understanding of CVDVarianten continues to evolve as new variants are discovered and reclassified, underscoring the need for data sharing and ongoing research.