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(Circulation. 2007;115:2-4.)
© 2007 American Heart Association, Inc.

Editorial

Degenerating Heart Valves

Fill Them up With Filamin?

Konstantinos Charitakis, MD; Craig T. Basson, MD, PhD

From the Center for Molecular Cardiology, Greenberg Division of Cardiology, Weill Medical College of Cornell University, New York, NY.

Correspondence to Craig T. Basson, MD, PhD, Director, Cardiovascular Research, Center for Molecular Cardiology, Greenberg Division of Cardiology, Weill Medical College of Cornell University, 525 E. 68th St, New York, NY. E-mail ctbasson@med.cornell.edu

Key Words: Editorials • valves • mitral valve • heart diseases

An extract of the first 250 words of the full text is provided, because this article has no abstract.

The intellect is always fooled by the heart.

— - La Rochefoucauld

Myxoid valvular heart dystrophies are a frequent cause of valvular diseases. They affect approximately 3% of the population and are the most common cause of isolated mitral regurgitations that require surgical repair.^1,2 These valvular diseases are a heterogeneous group of disorders and include isolated nonsyndromic valvular diseases, such as idiopathic mitral valve prolapse and the X-linked myxomatous valvular dystrophy (XMVD), and syndromic entities, such as Marfan syndrome. In this issue of Circulation, Kyndt et al³ report their surprising finding that specific mutations in filamin A (FLNA), a gene previously associated primarily with neurological and skeletal disorders, actually cause XMVD.

Article p 40

XMVD is a rare form of inherited nonsyndromic valvular dystrophy that was identified more than 30 years ago by Monteleone and Fagan.⁴ Initial reports suggested that only men could be affected, but a subsequent study revealed that the disease has heterogeneous presentations and that women can have milder manifestations.⁵ Histologically, the valves classically display abnormalities of myxomatous degeneration, with fragmentation of collagen bundles within the valve fibrosa and accumulation of proteoglycan and secondary calcification. The clinical spectrum of XMVD ranges from isolated mild valve defects to severe multivalvular lesions, but XMVD usually affects the mitral and/or aortic valve. The result is mitral valve prolapse and mitral and/or aortic regurgitation. Affected individuals are usually asymptomatic until valvular lesions progress to significant hemodynamic impairment and heart failure. Complications can include endocarditis, spontaneous chordal rupture, and sudden . . . [Full Text of this Article]