X-linked cardiac valvular dysplasia

Definition:

X-linked cardiac valvular dysplasia is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It has been reported that mutations in FLNA encoding filamin A cause this disease.

References:

[1]. Florence Kyndt, et al. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation. 2007 Jan 2;115(1):40-9. [Content Brief]

[2]. J N Trochu, et al. Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28. J Am Coll Cardiol. 2000 Jun;35(7):1890-7. [Content Brief]

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