Long-term cardiovascular morbidity and mortality in Turner syndrome patients with congenital heart disease: a single-center retrospective cohort study.

OBJECTIVE

Congenital cardiac anomalies are a major determinant of morbidity and mortality in Turner syndrome (TS), yet long-term cardiovascular outcome data remain limited. This study assessed cardiovascular morbidity, mortality, valve dysfunction, and aortic outcomes in TS patients with congenital cardiovascular defects.

METHODS

In this single-center retrospective cohort study, 84 TS patients with congenital cardiovascular anomalies were analyzed, with follow-up between 01/1980 and 01/2025. Clinical, demographic, electrocardiographic and echocardiographic variables were reviewed; morbidity and mortality were recorded; descriptive statistics applied.

RESULTS

Bicuspid aortic valve (BAV) was present in 40 patients (48%) and coarctation of the aorta (CoA) in 29 (35%); 19 patients (23%) had both. At last follow-up (median age 26 years, IQR 31 years), most patients were in NYHA class I (82%) and mean systolic and diastolic blood pressure were 121.7 ± 16.8 mmHg and 76.1 ± 13.1 mmHg, respectively. Sinus rhythm was present in 96% of the patients. In the BAV cohort, aortic regurgitation increased from 6 patients (15%) at first registration to 17 (42.5%) at last follow-up. In the tricuspid aortic valve cohort, aortic regurgitation increased from 1 patient (2.3%) to 12 (27.9%). The last mean ascending aortic diameter indexed to body surface area was 20.4 ± 4.6 mm/m2. Aortic dissection occurred in 2 patients (2.7%). Ten patients died during follow-up; median age at death was 41 years (IQR: 52 years), and cardiac causes accounted for at least 50% of mortality.

CONCLUSION

BAV and CoA predominated in this TS cohort. Despite generally favorable functional status among survivors, progressive valve dysfunction, aortic complications and cardiovascular mortality support lifelong structured surveillance.