FLNA Mutations in Multisystem Disease: A Diagnostic Key for Unexplained Valvular and Connective Tissue Disorder.

ABSTRACT:

Background

Keloid formation, multivalvular cardiac disease, and pulmonary and skeletal abnormalities rarely present together, suggesting a potential genetic syndrome. Mutations in FLNA have been implicated in such cases, expanding the known phenotypic spectrum.

Case summary

A 35-year-old male with a history of bicuspid aortic valve, Wolff- Parkinson-White syndrome, asthma, and spondylolisthesis presented with dyspnea. Examination revealed spontaneous keloid formation and echocardiography confirmed severe aortic regurgitation and mitral stenosis. Genetic testing identified an X-linked FLNA mutation (c.4726G>A, p.G1576R). He underwent successful mechanical aortic and mitral valve replacement.

Discussion

This case expands the clinical spectrum of FLNA mutations, emphasiz

SUBMITTER: Hoffman ME 

PROVIDER: S-EPMC12402375 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature