Introduction: The risk of aortic dissection (AoD) is significantly increased (40 per 100,000/y) in women with Turner Syndrome (TS), but the clinical profile and management for those at risk are not well-established. To gain a better understanding, we present the experience of a single centre with multidisciplinary care, including dedicated cardiology, for management of TS in adulthood.
Methods: Retrospective case-review of women developing AoD. Cardiac risk factors, echocardiography and cardiac-MRI (CMR) were recorded. Aortic dilatation was defined as ascending aorta diameter indexed to body-surface-area (AAi) >2.0 cm/m2.
Results: Three women, all 45,X, suffered fatal AoD, aged 20, 21 and 22-years. All had bicuspid aortic valve, but no evidence of coarctation. All were receiving oestrogen-replacement. Two were hypertensive (one on amlodipine). There was no history of pregnancy. All had AA dilatation:
Patient A. Echo (5-months prior to AoD): AA 4.0 cm / AAi 2.7 cm/m2, sinuses 3.3 cm / 2.2 cm/m2.
Patient B. Echo: AA 3.5 cm (versus 2.5 cm 1-year before). CMR: AA 3.4 cm / AAi 2.1 cm/m2, AA/DescendingA ratio=2.0.
Patient C. CMR: AA 4.7 cm (versus 4.4 cm at CMR 1-year before), AA/DescendingA ratio=2.2.
Conclusions: 1) Mean age of dissection (21-years) was significantly younger than the average age reported in the literature (29-35 years). 2) All were 45,X, had bicuspid aortic valves and dilated AAi, suggesting these are important risk factors. 3) Among the two women with serial scans, excessive AA growth was noted. This is in contrast to a previous report which showed no increased aortic dimensions in 5 women prior to AoD. This emphasizes the importance of screening/follow-up as AoD is a significant cause of premature mortality. Accordingly to the new TS-guidelines, we use baseline-CMR as soon as feasible, and educate all TS women to seek prompt evaluation if symptoms consistent with AoD occur. An AoD-pocket-card is also provided to alert emergency personnel about the higher risk of AoD in TS patients.