Robert A Levine1, Susan A Slaugenhaupt. 1. Cardiac Ultrasound Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA. rlevine@partners.org
Abstract
PURPOSE OF REVIEW: Mitral valve prolapse is a common disorder with a strong hereditary component. It is associated with important mitral regurgitation requiring surgical repair and other clinical complications. Genetic studies can provide clues to mechanism and therapy. RECENT FINDINGS: Advances in phenotypic classification have led to linkage to sites on chromosomes 11, 13 and 16 and identification of the first mutation in familial mitral valve prolapse not related to connective tissue syndromes - an X-linked filamin A mutation. New understanding of mechanism based on studies in a mouse Marfan model emphasize the dynamic interplay of differentiating cells and growth factors, with strong potential for therapy. SUMMARY: This new knowledge brings us closer to the ultimate goal of preventing the progression of mitral valve disease to the stage of clinical expression.
PURPOSE OF REVIEW: Mitral valve prolapse is a common disorder with a strong hereditary component. It is associated with important mitral regurgitation requiring surgical repair and other clinical complications. Genetic studies can provide clues to mechanism and therapy. RECENT FINDINGS: Advances in phenotypic classification have led to linkage to sites on chromosomes 11, 13 and 16 and identification of the first mutation in familial mitral valve prolapse not related to connective tissue syndromes - an X-linked filamin A mutation. New understanding of mechanism based on studies in a mouse Marfan model emphasize the dynamic interplay of differentiating cells and growth factors, with strong potential for therapy. SUMMARY: This new knowledge brings us closer to the ultimate goal of preventing the progression of mitral valve disease to the stage of clinical expression.
Authors: Robert A Levine; Albert A Hagége; Daniel P Judge; Muralidhar Padala; Jacob P Dal-Bianco; Elena Aikawa; Jonathan Beaudoin; Joyce Bischoff; Nabila Bouatia-Naji; Patrick Bruneval; Jonathan T Butcher; Alain Carpentier; Miguel Chaput; Adrian H Chester; Catherine Clusel; Francesca N Delling; Harry C Dietz; Christian Dina; Ronen Durst; Leticia Fernandez-Friera; Mark D Handschumacher; Morten O Jensen; Xavier P Jeunemaitre; Hervé Le Marec; Thierry Le Tourneau; Roger R Markwald; Jean Mérot; Emmanuel Messas; David P Milan; Tui Neri; Russell A Norris; David Peal; Maelle Perrocheau; Vincent Probst; Michael Pucéat; Nadia Rosenthal; Jorge Solis; Jean-Jacques Schott; Ehud Schwammenthal; Susan A Slaugenhaupt; Jae-Kwan Song; Magdi H Yacoub Journal: Nat Rev Cardiol Date: 2015-10-20 Impact factor: 32.419
Authors: Rajeev Mahimkar; Anita Nguyen; Michael Mann; Che-Chung Yeh; Bo-Qing Zhu; Joel S Karliner; David H Lovett Journal: Cardiovasc Pathol Date: 2008-10-01 Impact factor: 2.185
Authors: Robert B Hinton; Lisa J Martin; Smitha Rame-Gowda; Meredith E Tabangin; Linda H Cripe; D Woodrow Benson Journal: J Am Coll Cardiol Date: 2009-03-24 Impact factor: 24.094