A female infant presents with webbed neck, broad chest, widely spaced nipples, and primary amenorrhea. Karyotype shows 45,X. Which cardiac defect is MOST commonly associated with Turner syndrome?
- A Coarctation of the aorta (particularly preductal/infantile type) ✓
- B Ventricular septal defect
- C Ostium secundum ASD
- D Tetralogy of Fallot
Correct answer: A. Coarctation of the aorta (particularly preductal/infantile type)
Explanation
Turner syndrome (45,X) is associated with coarctation of the aorta in approximately 15–20% of cases and bicuspid aortic valve in 30–50%, making cardiovascular defects its most important medical complications. Coarctation in Turner syndrome leads to upper-extremity hypertension, rib notching, and risk of aortic dissection. Webbing of the neck (pterygium colli), low posterior hairline, and gonadal dysgenesis (streak gonads) are the classic features.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
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