Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis.

ABSTRACT: Myxoid degeneration of the cardiac valves is a common feature in a heterogeneous group of disorders that includes Marfan syndrome and isolated valvular diseases. Mitral valve prolapse is the most common outcome of these and remains one of the most common indications for valvular surgery. While the etiology of the disease is unknown, recent genetic studies have demonstrated that an X-linked form of familial cardiac valvular dystrophy can be attributed to mutations in the Filamin-A gene. Since these inheritable mutations are present from conception, we hypothesize that filamin-A mutations present at the time of valve morphogenesis lead to dysfunction that progresses postnatally to clinically relevant disease. Therefore, by carefully evaluating genetic factors (such as filamin-A) that play a

SUBMITTER: Norris RA 

PROVIDER: S-EPMC2909582 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature