Ehlers-Danlos syndrome cardiac valvular form (EDSCV)

Pathology

• connective tissue disorder

Genetics

• associated with defects in COL1A2 (autosomal recessive)

Clinical manifestations

• hyperextensible skin
• atrophic cutaneous scars due to tissue fragility
• joint hyperlaxity
• mitral valve prolapse & insufficiency
• mitral regurgitation
• aortic insufficiency

More general terms

• Ehlers-Danlos syndrome; cutis elastica (EDS)

Database

• OMIM: https://mirror.omim.org/entry/225320