Abstract 17216: Cardiovascular Features in 176 Patients with Turner Syndrome: Impact on Long-Term outcome
Background: Turner syndrome (TS) is known to be associated with cardiovascular (CV) anomalies including a high incidence of bicuspid aortic valve (BAV), aortic coarctation (CoA), aortic aneurysms (AA) and dissection, coronary artery disease (CAD) and stroke. The impact of CV anomalies on long-term outcome has not been well delineated.
Methods: 176 patients (pt) with TS were identified using our clinical and echocardiography database. Echocardiographic findings, clinical characteristics, genetic testing and CV interventions were reviewed and long-term clinical follow-up obtained (150pt after 180±165months). Aortic ectasia was defined as Z score >2, and AA as Z score >4.
Results: Age at first examination at our clinic was 16±14 years; age at last clinical follow 27±16 years. Associated CV anomalies included BAV in 47pt(27%), CoA in 22pt(13%), aortic ectasia in 54pt(31%) including 20 pt with AA (11%). Results of genetic testing were available in 141pt(80%): monosomy (58pt), complex anomaly (33), isochromosome (2), mosaic xy (17), and mosaic xx (9). The following CV risk factors were present; hypertension in 44 pt(25%), a body mass index >35 kg/m2 in 83(47%), hyperlipidemia in 34(19%) and treated hypothyroidism in 36(20%). Six pts had known CAD. Any CV intervention was necessary in 3 pt(22%) including cardiac surgery, other vascular surgery and/or coronary revascularization. Including stroke, 44 pt (25%) had a major adverse CV event. During long-term follow-up of 27±21 years, death occurred in 20 pt (11%) at an average age of 50±18 years. In 9 of 17 pts (53%) with a known cause of death, the cause was CV. The best predictors of death were the presence of AA and arterial hypertension (p<0.01). Death could not be predicted by karyotype, treatment with growth hormones or other associated CV anomalies. Overall 20 year survival for pts with TS was 93%.
Conclusions: In TS, adverse CV events are common resulting in frequent CV interventions during long-term follow-up. Despite a good long-term survival, death is often due to CV disease. The most important predictors for death are AA formation and arterial hypertension. The CV morbidity and mortality emphasizes the importance of regular informed CV evaluation and monitoring in this population.
- © 2012 by American Heart Association, Inc.