International Journal of Angiology · 2012 · 34 citations · 9 references
MedicineGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsVascular SurgeryAortic DiseaseVascular AnomaliesClassical Ehlers-danlos SyndromeVascular Ehlers-danlos Syndrome Genetics
We describe a 43-year-old man who developed a spontaneous dissection of a right iliac artery aneurysm after performing vigorous physical exercise. Additionally, during peripheral intervention, the patient developed iatrogenic dissection of the left iliac artery. The patient had the characteristic physical findings of Ehlers-Danlos syndrome (EDS), classic type. Genetic testing revealed a mutation in the COL5A1 gene associated with EDS, classic type. Vascular aneurysms and dissections are characteristics of EDS vascular type, but not the classic type. Only one previous case with EDS, classic type with spontaneous iliac artery dissection has been described.
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The metabolic and molecular bases of inherited disease
Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
Peter Beighton, Anne De Paepe, Beat Steinmann et al. · American Journal of Medical Genetics · 1998 · 1.8K citations
Fransiska Malfait, Sofie Symoens, Julie De Backer et al. · Human Mutation · 2007 · 162 citations · Full text