A 10-year-old girl is found to have Turner syndrome (45,X) on karyotype. Which cardiac defect is most commonly associated with this chromosomal abnormality?
- A Tetralogy of Fallot
- B Bicuspid aortic valve and coarctation of the aorta ✓
- C Ventricular septal defect (VSD)
- D Transposition of the great arteries
Correct answer: B. Bicuspid aortic valve and coarctation of the aorta
Explanation
Turner syndrome (45,X monosomy) has a high prevalence of congenital cardiovascular malformations — the most common are bicuspid aortic valve (approximately 30%) and coarctation of the aorta (approximately 10–15%), both left-sided obstructive lesions resulting from lymphatic-mediated impairment of normal cardiovascular development. Together they account for the majority of cardiac disease in Turner syndrome and mandate echocardiographic screening. Tetralogy of Fallot and transposition are not characteristically associated with Turner syndrome.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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