Ehlers-Danlos syndrome cardiac valvular type

info · Genetic

An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21.

Signs and symptoms

Inguinal hernia
Joint hypermobility
Atrophic scars
Calcaneovalgus deformity
Genu recurvatum
Pectus excavatum
Bruising susceptibility
Soft skin
Aortic regurgitation
Mitral regurgitation