A 14-year-old girl is being evaluated for primary amenorrhea, short stature (height 141 cm), cubitus valgus, and a webbed neck. Karyotype is 45,X. Echocardiography should be performed to screen for the most common cardiovascular abnormality in this syndrome, which is:

• A Atrial septal defect (secundum type)
• B Bicuspid aortic valve and coarctation of the aorta ✓
• C Hypoplastic left heart syndrome
• D Pulmonary stenosis with right ventricular hypertrophy

Explanation

Turner syndrome (45,X) is associated with cardiovascular defects in 25–50% of patients. Bicuspid aortic valve is the most common cardiac anomaly (~30%), and coarctation of the aorta occurs in ~15%. These left-sided obstructive lesions result from impaired development of lymphatics and left-sided cardiac structures in the 45,X genome. Progressive aortic dilation can lead to aortic dissection, a leading cause of death in adults. All patients with Turner syndrome should have cardiac MRI or echocardiography, with repeat imaging every 5 years. ASD is not the predominant lesion.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.