December 27, 2006Circulation293 citationsOpen Access

Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy

FKFlorence KyndtCentre National de la Recherche Scientifique JGJean-Pierre GueffetHôpital privé du Confluent VPVincent ProbstElectrophysiology

Structured PICO

Population

Families affected by familial cardiac valvular dystrophy / X-linked myxomatous valvular dystrophy (XMVD)

Intervention

FLNA gene mutation analysis

Outcome

Identification of genetic cause for isolated nonsyndromic myxomatous valvular dystrophy (MVD)

FLNA mutations are identified as the first known genetic cause of isolated nonsyndromic myxomatous valvular dystrophy, enabling genetic counseling for affected families.

Abstract

Our data demonstrate that FLNA is the first gene known to cause isolated nonsyndromic MVD. This is the first step to understanding the pathophysiological mechanisms of the disease and to defining pathways that may lead to valvular dystrophy. Screening for FLNA mutations could be important for families affected by XMVD to provide adequate follow-up and genetic counseling.

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