Original Research Article

Moderate Aortic Enlargement and Bicuspid Aortic Valve are Associated with Aortic Dissection in Turner Syndrome: Report of the International Turner Syndrome Aortic Dissection Registry

Background—Girls and women with Turner syndrome are at risk for aortic dissection and rupture. However the size of the aorta and the clinical characteristics among those with Turner syndrome and dissection has received little attention.

Methods and Results—We obtained medical records from 20 individuals who voluntarily participated in the International Turner Syndrome Aortic Dissection (ITSAD) Registry. Type-A dissections occurred in 17/20 (85%) and type-B occurred in 3 cases where 1 occurred after coarctation stent placement. Of those with spontaneous aortic dissections, 18/19 (95%) had an associated cardiac malformation that included a bicuspid aortic valve. In one individual there was no predisposing finding other than having Turner syndrome. Associated pregnancy was documented in 1/19 (5%). More than half (13/19, 68%) came to medical attention > 24 hours after the onset of symptoms. For those with type-A dissections the mean ascending aortic size index (ASI-AAO) was 2.7 ± 0.6 cm/m2 (n=9).

Conclusions—Aortic dissection in TS occurs in young individuals at smaller aortic diameters than the general population or other forms of genetically triggered aortopathy. The absence of aortic valve or other cardiac malformations appears to markedly reduce the risk of aortic dissection However, aortic dissection can occur in TS without cardiac malformations or hypertension. TS individuals > 18 years with an ASI-AAO above 2.5 cm/m2 should be considered for an aortic operation to prevent aortic dissection.