Heart valves ehlers-danlos syndrome Q79.6

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of hereditary connective tissue diseases whose main clinical features are overstretchability of the skin and hyperreflexia of the joints. Depending on the type of disease and the underlying gene mutations, vessels, muscles, ligaments, tendons and internal organs are also affected.

So far, 19 gene mutations are known to trigger EDS. The various mutations lead to changes in the structure, production or processing of collagen or of proteins that interact with collagen. The frequency of occurrence in the population is assumed to be 1:5,000 to 1:10,000, making EDS a rare disease (orphan disease).

Heart valve EDS is an autosomal-dominantly inherited rare disease variant of Ehlers-Danlos syndrome.

The genetic cause of "heart valve EDS" is found in a pathological collagen I (absence of the alpha2 chain of collagen I - Malfait F et al. 2006) caused by mutations in the COL1A gene located on chromosome 7q21.3 (Guarnieri V et al. 2019).

Major Criteria:

• Skin: Hyperelasticity
• Skin that is fragile and easily vulnerable
• Hematoma tendency
• General joint hypermobility
• Heart: severe heart valve defects (aortic valve, mitral valve)

Minor criteria:

• Skeletal system: Chest deformities (pectus excavatum)
• Joint Dislocations
• Foot deformities (Pes planovlagus, Hallux valgus)

Other:

• inguinal hernia
• Striking facial physiognomy with reduction of subcutaneous fat tissue and pseudoexophthalmos (bird face)

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6. Guarnieri V et al (2019) Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. At J Med Genet A 179:846-851. https://www.ncbi.nlm.nih.gov/pubmed/30821104
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