A 16-year-old girl presents with primary amenorrhea, short stature, webbed neck, and coarctation of the aorta. Chromosomal analysis shows 45,X. Which cardiac defect is most commonly associated with this syndrome?

• A Ventricular septal defect
• B Bicuspid aortic valve with coarctation of the aorta ✓
• C Tetralogy of Fallot
• D Patent ductus arteriosus

Explanation

Turner syndrome (45,X) is the most common sex chromosome monosomy and the most frequent cause of primary amenorrhea in phenotypic females. Cardiovascular abnormalities occur in approximately 30-50% of cases; the most common is bicuspid aortic valve, followed by coarctation of the aorta. Both conditions together (bicuspid aortic valve + coarctation) are particularly characteristic of Turner syndrome and predispose to aortic dissection in adulthood. VSD and TOF are not specifically associated with Turner syndrome.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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