Key result
FLNA gene mutations cause an X-linked hereditary cardiac valvular dystrophy characterized by early age of onset and frequent multi-valve involvement.
Case Report
FLNA-related cardiac valve disease is a likely underdiagnosed X-linked disorder characterized by early onset and multi-valve involvement.
Consider FLNA testing in early-onset multi-valve disease; case reports leave open prevalence and penetrance.
We report on the clinical findings in siblings affected by the recently characterized X-linked form of hereditary cardiac valvular dystrophy or cardiac valve disease (OMIM 314400) due to mutations in the FLNA gene and review the literature on this condition. Although FLNA related cardiac valve disease is presumed to be a rare disorder, it is likely underdiagnosed. Several features of this condition may aid in its identification. FLNA related valvular disease can be recognized on the basis of its distinctive inheritance, early age of onset, and frequent multi-valve involvement.
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Bernstein et al. (2011) conducted a case report in Familial cardiac valvulopathy (FLNA related cardiac valve disease). FLNA gene mutation was evaluated. FLNA gene mutations cause an X-linked hereditary cardiac valvular dystrophy characterized by early age of onset and frequent multi-valve involvement.
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