A four-generation pedigree of vascular-type Ehlers–Danlos syndrome with spontaneous aortic dissections and multiple aneurysms: A case report and literature review

Abstract

Ehlers-Danlos syndrome (EDS) is a rare, heritable connective tissue disorder disease . Among the subtypes of EDS, vascular type EDS (VEDS), is the most catastrophic one which can lead to aortic aneurysm, aortic dissection and even aortic rupture. We report a four-generation pedigree of VEDS. We give the propositus and her sister a DNA Test and made a literature review about the treatment of VEDS. The diagnosis turned out to be VEDS, which is caused by mutations in COL3A1(c.2221G>A, p.G741S), The patient received conservative treatment and her family got the medical instructions. Although EDS is rarely seen, it is necessary to be aware of this disease to make the right diagnosis and chose the appropriate treatment strategy, Doctors' unfamiliarity with this disease may compromise care.