The Genetics of Mitral Valve Prolapse

Mitral valve prolapse (MVP) is a common valvular heart disease that can be identified in up to 3% of individuals from the general population. It can present as an isolated phenomenon or as part of a larger spectrum of features like in connective tissue disorders. Its clinical phenotype is highly variable. In general MVP does not give any symptoms and has a good prognosis yet severe mitral insufficiency, heart failure, endocarditis, thromboembolic complications, and sudden cardiac death may occur. This happens particularly in a small subset of patients with bileaflet MVP syndrome which is mainly seen in young adult females, with bileaflet MVP, T wave abnormalities in the inferior leads, and polymorphic/RBBB morphology complex ventricular ectopy. Treatment of mitral insufficiency depends on severity, symptoms, and left ventricular dilatation or systolic function deterioration. Arrhythmias are treated medically, with catheter ablation or device therapy according to the guidelines. Ablation of ventricular ectopy can be useful for preventing symptoms and ICD shocks. Familial occurrence of MVP is not uncommon, yet true monogenic forms of MVP are rare. So far, DCHS1 FLNA and DZIP1A are the only genes described underlying autosomal dominant and X-linked forms of disease. Because the genetic architecture of MVP has not yet been elucidated, cardiologic screening in close family members of patients with MVP has to be considered.