An 8-year-old girl with Turner syndrome (45,X) is being evaluated for associated comorbidities. Which cardiac anomaly is MOST commonly associated with Turner syndrome and requires echocardiographic surveillance throughout life?
- A Bicuspid aortic valve (BAV) and aortic coarctation ✓
- B Tetralogy of Fallot
- C Transposition of great arteries
- D Complete atrioventricular septal defect
Explanation
Turner syndrome has a 25–50% prevalence of congenital heart defects, predominantly left-sided obstructive lesions. Bicuspid aortic valve (BAV) occurs in ~30% of Turner syndrome patients and aortic coarctation in ~10–12%. The combination of BAV and Turner syndrome confers markedly increased risk of aortic root dilation and aortic dissection — a life-threatening complication even in normotensive patients. Current Turner syndrome management guidelines recommend MRI/echocardiographic cardiovascular surveillance every 3–5 years lifelong, with lower threshold for cross-sectional imaging (MRI/CT) given radiation concerns. AVSD is the hallmark cardiac defect of Down syndrome.
Reference: Ghai Essential Pediatrics, 10th ed.
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