A 3-year-old girl is evaluated for short stature, webbed neck, widely spaced nipples, and primary amenorrhea is anticipated. Karyotype is 45,X. Regarding Turner syndrome, which cardiac anomaly is MOST common and which is MOST life-threatening?

• A Most common: bicuspid aortic valve; Most life-threatening: coarctation of aorta
• B Most common: bicuspid aortic valve; Most life-threatening: aortic dissection/rupture ✓
• C Most common: coarctation of aorta; Most life-threatening: aortic dissection/rupture
• D Most common: atrial septal defect; Most life-threatening: complete heart block

Explanation

In Turner syndrome (45,X), the most common cardiac defect is bicuspid aortic valve (present in ~30–50% of patients), followed by coarctation of aorta (~15%). However, the most life-threatening complication is aortic root dilatation progressing to aortic dissection/rupture, which can occur even without coarctation and is a leading cause of death in Turner syndrome. Regular aortic surveillance with MRI and strict blood pressure control are essential lifelong. Management includes estrogen replacement and growth hormone therapy for short stature.

Reference: Ghai Essential Pediatrics, 10th ed.

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Written and medically reviewed by the StethoPrep medical team.