Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome

Abstract

Vascular Ehlers-Danlos syndrome (VEDS) is rare, affecting an estimated 1 per 50,000 individuals, and is associated with abdominal aortic aneurysms (AAAs), among other arteriopathies. We present three patients with genetically confirmed VEDS who underwent successful open AAA surgical repair and demonstrate that elective open AAA repair with careful tissue manipulation is safe and feasible for patients with VEDS. These cases also demonstrate that the VEDS genotype is associated with the aortic tissue quality (genotype–surgical phenotype correlation), with the most friable tissue encountered in the patient with a large amino acid substitution and the least friable tissue in the patient with a null (haploinsufficiency) variant.

Keywords

• Abdominal aortic aneurysm
• COL3A1
• Connective tissue disorder
• Genetic aortopathy
• Vascular Ehlers-Danlos syndrome