A 14-year-old girl of normal height presents with primary amenorrhoea, absent secondary sexual characteristics, webbed neck, and shield chest. Karyotype is 45,X. Which cardiac defect is most commonly associated with Turner syndrome?
- A Bicuspid aortic valve (BAV) — present in approximately 30% of Turner syndrome patients ✓
- B Ventricular septal defect (VSD) — most common congenital cardiac defect overall
- C Transposition of the great arteries — requiring Mustard/Senning repair
- D Tetralogy of Fallot — associated with 22q11 deletion
Correct answer: A. Bicuspid aortic valve (BAV) — present in approximately 30% of Turner syndrome patients
Explanation
Turner syndrome (45,X) is associated with cardiovascular anomalies in approximately 30–50% of cases; bicuspid aortic valve is the most common, occurring in ~30% and predisposing to aortic root dilation and dissection. Coarctation of the aorta (left-sided obstructive lesions) is also associated (~10%). VSD is the most common congenital heart defect in the general population but not specifically associated with Turner syndrome.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
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