[Vascular Ehlers-Danlos syndrome with extensive involvement of thoracic and abdominal aorta in three young women of the same family]

Abstract

Vascular Ehlers-Danlos syndrome is a rare genetic and hereditary disorder that affects and weakens the structure and sustentability of medium and large size arteries, causing severe clinical complications, often fatal, such as is the case of spontaneous ruptures, aneurysms or arterial dissections. Concomitantly, spontaneous intestinal perforations may occur, as well as uterine ruptures, following a pregnancy and during the peripartum period. The authors report the clinical cases of three young females of the same family, with the diagnosis of vascular Ehlers-Danlos syndrome, coursing with severe involvement of the aorta (ascending aortic anerysm, dissection of the thoracoabdominal aorta), who underwent successful surgical management and were evaluated from 6 to 18 years after the operations. To complete the clinical presentation of the cases, the authors review the most recent literature and discuss the main features of this entity, namely its genetic origin, the arterial morphology and structural alterations, its clinical expression, the diagnosis and the challenges faced by the therapeutical approach, wether it would be the conventional arterial reconstructive surgery or the most recently introduced endovascular intervention.