Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation.
COL3A1
angiography
aortic dissection
hemothorax
vascular Ehlers-Danlos syndrome
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Dec 2019
01 Dec 2019
Historique:
pubmed:
9
8
2019
medline:
3
3
2020
entrez:
9
8
2019
Statut:
ppublish
Résumé
Type III collagen is the major protein in the walls of blood vessels and hollow organs; it is decreased in patients with vascular Ehlers-Danlos syndrome (EDS). A 52-year-old man was admitted for severe back pain, and right hemothorax was suspected by chest computed tomography. Immediately after embolization for bleeding bronchial artery, aortic dissection occurred and was treated conservatively in the intensive-care unit. Vascular EDS with a mutation of COL3A1 cDNA (c.3175G>A) was diagnosed. When vascular EDS is suspected, the patient should be treated prophylactically, and a genetic examination should be performed to confirm the diagnosis.
Identifiants
pubmed: 31391389
doi: 10.2169/internalmedicine.2983-19
pmc: PMC6928492
doi:
Substances chimiques
COL3A1 protein, human
0
Collagen Type III
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3441-3447Références
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