X-Linked Cardiac Valvular Dysplasia

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.

**Synonyms:** - CVD1 - Filamin A-Related X-Linked Myxomatous Valvular Dysplasia - X-Linked Myxomatous Valvular Dysplasia