Cardiac-valvular Ehlers-Danlos

Cardiac-Valvular Ehlers-Danlos (cvEDS) is autosomally recessive due to biallelic mutations in COL1A2, that lead to nonsense-mediated nRNA decay. cvEDS is caused by a complete lack of the proa2-chain of type 1 collagen.

 

Minimal criteria to suggest a cvEDS diagnosis is the first plus a family history compatible with the autosomal recessive transmission, and either one other major criterion or at least two minor criteria.

Molecular testing is required to confirm a diagnosis.

Major Criteria:

1. Severe progressive cardiac-valvular problems (aortic valve, mitral valve);

2. Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising: and

3. Joint hypermobility (generalised or restricted to small joints). 

Minor Criteria:

1. Inguinal hernia;

2. Pectus deformity (especially excavatum);

3. Joint dislocations;

3. Foot deformities: pes planus, planovalgus, hallux valgus. 

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes