What is Cardiac-Valvular Ehlers-Danlos Syndrome?
Cardiac-Valvular Ehlers-Danlos (cvEDS) is autosomally recessive (a child of one parent with EDS has a 50% chance of inheriting) 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.
For more information please see Ehlers-Danlos Syndromes, The Rarer Types
Signs and Symptoms of Cardiac-Valvular EDS
The signs and symptoms of Cardiac-Valvular EDS vary but may include:
- Abnormal heart valve morphology
- Hyperextensible skin
- Joint hypermobility
- Mitral regurgitation
- Absent phalangeal crease
- Aortic regurgitation
- Aortic root aneurysm
- Atrophic scars
- Bruising susceptibility
- Dental crowding
- Inguinal hernia
- Joint dislocation
- Long fingers
- Pectus excavatum
- Pes planus
- Poor wound healing
- Soft, doughy skin
Occasionally there may be other features present including:
- Atrial septal defect
- Bulbous nose
- Calcaneovalgus deformity
- Disproportionate tall stature
- High palate
- Myopic astigmatism
Cardiac-Valvular Ehlers-Danlos Syndrome Diagnosis
There are four minor criteria. Minimal clinical standards suggesting cvEDS are the first major criterion plus a family history compatible with autosomal recessive transmission, and either one other major criterion or at least two minor criteria.
- Severe progressive cardiac-valvular problems (aortic valve, mitral valve)
- Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising
- Joint hypermobility (generalized or restricted to small joints)
- Inguinal hernia
- Pectus deformity (especially excavatum)
- Joint dislocations
- Foot deformities: pes planus, pes planvalgus, hallux valgus
Minimal criteria suggestive for cvEDS:
Major Criterion 1: severe progressive cardiac-valvular problems
AND a family history compatible with autosmal recessive inheritance
either: one other major criterion and/or at least two minor criteria.
Confirmatory molecular testing is obligatory to reach a final diagnosis.
Source: Source: [1 2017 International Classification of the Ehlers-Danlos Syndromes] [2 Cardiac-Valvular Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)] [3 The Ehlers-Danlos Society]
Support for Cardiac-Valvular Ehlers-Danlos Syndrome
Please feel free to join our Nationwide Support Group “Loosely Speaking” on Facebook, or check out our more localised support groups to see if there is one within your area.
EDSNZ are working at compiling a list of resources of services and support you may be interested in. Among these are: