The genetics of mitral valve prolapse

doi:10.1111/j.1399-0004.2007.00865.x

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Wiley InterScience

Clinical Genetics

Volume 72 Issue 4, Pages 288 - 295

Published Online: 2 Sep 2007

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Review

The genetics of mitral valve prolapse

JB Grau ^a , L Pirelli ^a , P-J Yu ^a , AC Galloway ^a H Ostrer ^b

^a Department of Cardiothoracic Surgery, and ^bHuman Genetics Program, New York University School of Medicine, New York, NY, USA

Correspondence to Harry Ostrer, MD, Human Genetics Program, Department of Pediatrics, Medical Science Building 1 136 550 First Avenue, New York, NY 10016, USA.
Tel.: +1 212 263 7596/5746;
fax: +1 212 263 3477;
e-mail: harry.ostrer@med.nyu.edu

KEYWORDS

genetic profile • mitral regurgitation • mitral valve prolapse • prevalence

Grau JB, Pirelli L, Yu P-J, Galloway AC, Ostrer H. The genetics of mitral valve prolapse.
Clin Genet 2007: 72: 288–295. © Blackwell Munksgaard, 2007

ABSTRACT

Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. Improvements of echocardiographic techniques and new insights in mitral valve anatomy and physiology have rendered the diagnosis of this condition more accurate and reliable. MVP can be sporadic or familial, demonstrating autosomal dominant and X-linked inheritance. Three different loci on chromosomes 16, 11 and 13 have been found to be linked to MVP, but no specific gene has been described. Another locus on chromosome X was found to cosegregate with a rare form of MVP called 'X-linked myxomatous valvular dystrophy'. MVP is more frequent in patients with connective tissue disorders including Marfan syndrome, Ehlers–Danlos and osteogenesis imperfecta. The purpose of this review is to describe previous studies on the genetics and prevalence of MVP. The report warrants the need for further genetically based studies on this common, albeit not fully understood, clinical entity.

Received 9 April 2007, revised and accepted for publication 25 May 2007

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1399-0004.2007.00865.x About DOI