X-linked cardiac valvular dysplasia

info · Genetic

A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.

Signs and symptoms

Mitral regurgitation
Aortic regurgitation
Mitral valve prolapse
Tricuspid regurgitation
Short chordae tendineae of the mitral valve
Abnormality of metabolism/homeostasis
Short chordae tendineae of the tricuspid valve
Congestive heart failure
Joint stiffness
Joint hypermobility

Also known as: CVD1; Dystrophie valvulaire associee a FLNA; EDS5; Ehlers-Danlos syndrome, type 5; FLNA-related X-linked myxomatous valvular dysplasia