Aortic dissection in Turner syndrome

Cardiovascular malformations occur in up to 47% of women with Turner syndrome. Aortic dissection, a devastating and often fatal condition, occurs more frequently in women with Turner syndrome than in the general population (0.8% v 0.00001%), particularly in women with 45XO monosomy. There have been many reported cases of Stanford type A aortic dissection (involving the ascending aorta or aortic arch, with variable distal extension) in women with Turner syndrome, but type B dissections (involving only the aorta distal to the arch) are relatively uncommon.

We recently successfully treated a 38-year-old woman with Turner syndrome (45XO) who had a Stanford type B thoraco-abdominal aortic dissection. A computed tomography scan (Box) demonstrated contrast within the larger true lumen of the aorta and the smaller false lumen of the dissection, separated by intima.

Clinicians treating a patient with Turner syndrome should be aware of their patient’s genotype and investigate for the presence of cardiovascular malformations to help stratify the risk. It is important to remain alert to the possibility of aortic dissection in patients with Turner syndrome who complain of chest pain, abdominal pain or dyspnoea, as early detection may save a life.