Hyperdynamic Valve: A Rare Case of Ehlers-Danlos Syndrome.
COL1A2
Cardiac-valvular subtype
Ehlers-Danlos syndrome
Hypermotility
Journal
Journal of medical cases
ISSN: 1923-4155
Titre abrégé: J Med Cases
Pays: Canada
ID NLM: 101551824
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
09
03
2021
accepted:
23
03
2021
entrez:
26
8
2021
pubmed:
27
8
2021
medline:
27
8
2021
Statut:
ppublish
Résumé
Ehlers-Danlos syndrome is a group of rare genetic disorders of collagen characterized by skin hyperextensibility, joint hypermobility and tissue fragility. The authors describe a rare case of a 52-year-old woman that presented to the clinic with chronic joint pain and talipes equinovarum since childhood. Large eyes, sunken cheeks, thin nose and lobeless ears were noticed on clinical examination. Beighton joint hypermotility criteria were met with a positive Walker and Steinberg sign, elbow extension superior to 10° and knee extension in genu recurvatum more than 10°. An aortic diastolic grade III/VI heart murmur was heard. The complementary study was unremarkable. Moderate aortic insufficiency was found on transthoracic echocardiogram. Genetic testing confirmed positivity for COL1A2, a gene that encodes pro-alpha2 chain type of collagen, which causes cardiac-valvular Ehlers-Danlos syndrome. Authors intend to warn to collagen-related syndromes, since severe complications are associated with a reduced life expectancy for individuals with this condition.
Identifiants
pubmed: 34434473
doi: 10.14740/jmc3692
pmc: PMC8383692
doi:
Types de publication
Case Reports
Langues
eng
Pagination
284-287Informations de copyright
Copyright 2021, Pires et al.
Déclaration de conflit d'intérêts
None to declare.
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