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Cardiac-valvular Ehlers-Danlos syndrome
Disease definition
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
ORPHA:230851
Classification level: DisorderA summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Detailed information
General public
- Article for general public
- Svenska (2015) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- English (2014) - Orphanet J Rare Dis
- English (2018) - RMD Open
- Français (2020) - PNDS
- English (2020) - Nat Rev Dis Primers
- Anesthesia guidelines
- Czech (2019) - Orphananesthesia
- Deutsch (2019) - Orphananesthesia
- English (2019) - Orphananesthesia
- Español (2019) - Orphananesthesia
Genetic Testing
- Guidance for genetic testing
- Deutsch (2015, pdf) - Kardiologe


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.