Marfan syndrome and mitral valve prolapse.
Mitral valve prolapse (MVP), an abnormal displacement into the left atrium of a thickened and redundant mitral valve during systole, is a relatively frequent abnormality in humans and may be associated with serious complications. A recent study implicates fibrillin-1, a component of extracellular matrix microfibrils, in the pathogenesis of a murine model of MVP. This investigation represents an initial step toward understanding the mechanisms involved in human MVP disease and the development of potential treatments.
Weyman
Arthur E
AE
Cardiac Ultrasound Laboratory, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. aweyman@partners.org
Scherrer-Crosbie
Marielle
M
D000818:Animals; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D051379:Mice; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism; D008945:Mitral Valve Prolapse / Q000473:pathology / Q000503:physiopathology*; D016212:Transforming Growth Factor beta / Q000378:metabolism; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D016212:Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines; C000605724:Fbn1 protein, mouse