Abstract 16248: Aortopathy In Turner's Syndrome - A Potentially Lethal Complication
Aims: Prompted by a recent death in a Turner’s syndrome (TS) patient with a mildly dilated aortic root on MRI, we conducted a dual-centre retrospective study to describe the prevalence patterns of bicuspid aortic valve (BAV) and aortic disease in TS.
Results : 52 adult TS patients (karyotype XO + mosaics) were identified, 40 with aortic imaging, including 3 who died. Mean age was 35+/-11 years and mean BSA was 1.5+/-0.13. Of these, 53% (24) had BAV (4 required aortic valve surgery), 9 (23%) had repaired coarctation and 18 (38%) had hypertension. 11(28%) had aortic root abnormalities: two had fatal aortic dissections with mildly or moderately dilated root size and cystic medial necrosis histologically. (A 29yo, 40mm ascending aorta and a 41yo with 51mm aortic root on pre-mortem MRI). Another died peri-operatively during a Bentall’s procedure (60yo). Of the 11 with aortopathy, all had BAV, 5 were hypertensive and 3 had had coarctation repair. Two other cases were identified via the coroner: a 31yo woman with aortic dissection and extrinsic coronary compression and a 49yo with severe coronary atheroma and acute myocardial infarction. The presence of BAV most significantly correlated with increased aortic root size (Mean aortic root size 34+/-8 mm; non-BAV 28+/-6mm p=0.03). Age, prior coarctation or hypertension did not significantly correlate with aortic root size in our cohort (p=0.4 - 0.8).
Conclusion : There is an unexpectedly high incidence of BAV, aortopathy and premature atheroma in TS patients. Dissection can occur at a modest aortic diameter. As TS patients are small, indexing aortic size to body surface area may be indicated. Close surveillance of aortopathy and vascular risk factors appears prudent to optimize outcomes.
- © 2012 by American Heart Association, Inc.