Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.

Authors

  • Marta Rebelo Department of Internal Medicine, University Hospital of Coimbra, Coimbra, Portugal.
  • Leonor Ramos
  • Jandira Lima
  • J Diniz Vieira
  • Purificação Tavares
  • Luísa Teixeira
  • Albuquerque Matos
  • J Nascimento Costa

DOI:

https://doi.org/10.20344/amp.1405

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.

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Published

2012-06-20

How to Cite

1.
Rebelo M, Ramos L, Lima J, Vieira JD, Tavares P, Teixeira L, Matos A, Costa JN. Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene. Acta Med Port [Internet]. 2012 Jun. 20 [cited 2024 Nov. 13];24(6):1079-86. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/1405

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Section

Arquivo Histórico