Sudden and unexpected death in three cases of ehlers-danlos syndrome type IV

Lisa B.E. Shields, Cristin M. Rolf, Gregory J. Davis, John C. Hunsaker

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

Ehlers-Danlos syndrome (EDS) type IV is a connective tissue disorder characterized by the inability to produce sufficient amounts of collagen or a defect in the structure of collagen. The most serious complications include a rupture of a viscus or vascular rupture with or without mural dissection. Death may result from internal hemorrhage. This report describes three cases of sudden and unexpected death caused by EDS type IV. Two cases involved hemothorax as a result of dissection of the subclavian artery and aorta, respectively. The third case represented spontaneous pulmonary rupture and hemorrhage. A detailed family history should be sought, and additional specimens collected to confirm the diagnosis, including skin fibroblasts for collagen testing and blood for DNA testing. The forensic pathologist should consider the possibility of EDS type IV upon discovery of spontaneous visceral or arterial rupture and should alert the family members of this hereditary and potentially fatal condition.

Original languageEnglish
Pages (from-to)1641-1645
Number of pages5
JournalJournal of Forensic Sciences
Volume55
Issue number6
DOIs
StatePublished - Nov 2010

Keywords

  • Connective tissue disorder
  • Ehlers-Danlos syndrome
  • Forensic pathology
  • Forensic science
  • Hereditary
  • Sudden death

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Genetics

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