Orphanet: Cardiac valvular Ehlers Danlos syndrome

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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: Disorder

Synonym(s):
- Cardiac-valvular EDS
- cvEDS
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q79.6
ICD-11: LD28.1Y
OMIM: 225320
UMLS: C5679842
MeSH: -
GARD: 12613
MedDRA: -

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

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Cardiac-valvular Ehlers-Danlos syndrome

ORPHA:230851

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

General public

Guidelines

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services