Fatal vascular catastrophe in Ehlers-Danlos syndrome: a case report and review.
The Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders that are characterized by abnormalities of the skin, joints, and a diversity of other phenotypic manifestations. An awareness of the disease is vital for optimal outcome in this rare group of patients who may present with a variety of life-threatening illnesses. Ehlers-Danlos type IV has been associated with vascular catastrophes, perforated viscous, ruptured uterus, and pneumothorax (1-4). We present a case of aneurysmal formation and spontaneous rupture of the great vessels in a 15-year-old male with EDS type IV, who remained undiagnosed until the time of autopsy.
Wimmer
P J
PJ
Section of Emergency Medicine, University of Chicago, Illinois 60637, USA.
Howes
D S
DS
Rumoro
D P
DP
Carbone
M
M
D000293:Adolescent; D000784:Aortic Dissection / Q000209:etiology; D017545:Aortic Aneurysm, Thoracic / Q000209:etiology; D001019:Aortic Rupture / Q000209:etiology; D004535:Ehlers-Danlos Syndrome / Q000150:complications*; D004630:Emergencies; D017809:Fatal Outcome; D006406:Hematoma / Q000209:etiology; D006801:Humans; D008297:Male; D012422:Rupture, Spontaneous; D014652:Vascular Diseases / Q000209:etiology*