[Aortic aneurysms in Ullrich-Turner syndrome]

Abstract

Background: Adolescents and young adults with Marfan-syndrome, Ehlers-Danlos-syndrome and with coarctation of the aorta are at risk of developing dissecting aortic aneurysms. The rupture of an aortic aneurysm has a poor prognosis.

Patients: We report on two adolescents with Ullrich-Turner-syndrome (UTS) who died from dissection of an aneurysm of the aorta.

Results: Including these two case reports we reviewed the literature concerning congenital heart disease and development of aortic aneurysms in UTS. Patients with UTS are at increased risk to develop an aortic aneurysm. Beside the basic chromosomal anomaly additional risk factors like coarctation of the aorta, aortic valve defects or arterial hypertension are frequently present in the affected girls. The rupture of dissecting aortic aneurysms is one major reason for the shorter life expectancy of patients with UTS compared to the normal population.

Conclusion: Annual echocardiographic surveillance of the diameter of the ascending aorta is necessary in all patients with UTS. A sudden increase of the diameter or a diameter of 5-6 cm are criteria for the elective surgical replacement of the aortic root. Vigorous treatment of arterial hypertension is mandatory. Patients with dilated ascending aorta or coarctation of the aorta should avoid competitive sports and all sports associated with the risk of trauma to the thorax, i.e. boxing or jumping from diving platforms.