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- Title
EHLERS-DANLOS SYNDROME TYPE IV.
- Authors
REBELO, Marta; RAMOS, Leonor; LIMA, Jandira; VIEIRA, J. Diniz; TAVARES, Purificação; TEIXEIRA, Luísa; MATOS, Albuquerque; COSTA, J. Nascimento
- Abstract
The Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. An awareness of the disease is of vital importance for the optimal outcome, since the affected individuals have a high risk of vascular, intestinal and uterine rupture. It's a disease with great clinical variability and the diagnosis is confirmed by detection of a mutation in the gene encoding collagen type III. The authors present a case report of a patient who appeared at the emergency ward with acute abdomen and hypovolemic shock after spontaneous aortic rupture. The diagnosis was confirmed after genetic study that identified a mutation in the (c.970G>A) in the COL3A1 gene, only reported once in the literature in a family with internal carotid dissections in some of its members. It's the first time that this mutation is reported in association with the EDS-IV. The authors also make a brief review of the clinical, genetic and molecular characteristics of this syndrome.
- Subjects
EHLERS-Danlos syndrome; COLLAGEN; AORTIC rupture; CAROTID artery surgery; ABDOMINAL diseases; PATIENTS
- Publication
Acta Médica Portuguesa, 2011, Vol 24, Issue 6, p1079
- ISSN
0870-399X
- Publication type
Article