Genetics of syndromic and non-syndromic mitral valve prolapse

• Published in: Heart (British Cardiac Society) Vol. 104; no. 12; pp. 978 - 984
• Main Authors: Le Tourneau, Thierry, Mérot, Jean, Rimbert, Antoine, Le Scouarnec, Solena, Probst, Vincent, Le Marec, Hervé, Levine, Robert A, Schott, Jean-Jacques
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.06.2018; BMJ Publishing Group
• Subjects: Animals; Chromosomes; Defects; Disease; Gene expression; Genetic Markers; Genetic Predisposition to Disease; Genome-Wide Association Study; Genomes; Humans; Identification; Life Sciences; Marfan syndrome; Mitral Valve - diagnostic imaging; Mitral Valve - physiopathology; Mitral Valve Prolapse - diagnostic imaging; Mitral Valve Prolapse - epidemiology; Mitral Valve Prolapse - genetics; Mitral Valve Prolapse - physiopathology; Morphogenesis; Mutation; Phenotype; Prognosis; Risk Factors; Syndrome; genetic; mitral valve prolapse; Filamin-A; animal model; Dachsous; myxomatous disease

Mitral valve prolapse (MVP) is a common condition that affects 2%–3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two diff...