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.
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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).
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Minor Criteria:
1. Inguinal hernia;
2. Pectus deformity (especially excavatum);
3. Joint dislocations;
3. Foot deformities: pes planus, planovalgus, hallux valgus.
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For more information see The Ehlers-Danlos Society
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References
The 2017 International Classification of the Ehlers–Danlos Syndromes