A 2-year-old girl presents with short stature, webbing of neck, widely spaced nipples, cubitus valgus, and widely spaced eyes. Karyotype shows 45,X. Echocardiography should be routinely performed as this karyotype is associated with which specific cardiac defect at highest risk?

• A Ventricular septal defect
• B Atrioventricular septal defect
• C Pulmonary stenosis
• D Bicuspid aortic valve and coarctation of the aorta ✓

Explanation

Turner syndrome (45,X) is associated with cardiac malformations in 25-30% of affected individuals. The most characteristic and clinically significant defects are bicuspid aortic valve (occurring in ~30%) and coarctation of the aorta (~15%). Coarctation can cause systemic hypertension and aortic dissection risk (particularly in the setting of bicuspid aortic valve). Atrioventricular septal defect is strongly associated with Down syndrome (Trisomy 21). Pulmonary stenosis with normal facies is characteristic of Noonan syndrome (which shares Turner phenotype — often called 'male Turner'). Echocardiography is mandatory at diagnosis and follow-up MRI of the aorta in adulthood.

Reference: Ghai Essential Pediatrics, 10th ed.

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Written and medically reviewed by the StethoPrep medical team.