Pediatrics · Pediatric Genetic Syndromes and Dysmorphology (Detailed)

A child presents with short stature, webbed neck, widely spaced nipples, and failure of pubertal development at age 14. Karyotype is 45,X. Which of the following is the MOST common cardiac anomaly in this condition?

  • A Pulmonary stenosis
  • B Bicuspid aortic valve and coarctation of the aorta
  • C Atrial septal defect
  • D Aortic stenosis
Correct answer: B. Bicuspid aortic valve and coarctation of the aorta

Explanation

Turner syndrome (45,X) is associated with cardiovascular defects in approximately 30–50% of patients. Bicuspid aortic valve (most common, ~30%) and coarctation of the aorta (~10%) are the hallmark cardiovascular anomalies. Coarctation causes upper limb hypertension and radio-femoral pulse delay. These children require lifelong cardiac surveillance due to aortic dilation risk. Noonan syndrome (not Turner) is associated with pulmonary stenosis.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.

Sponsored

Want to test yourself?

Create a free account for timed mock tests, mistake tracking, and FSRS spaced-repetition revision across 23,000+ MCQs.

Start free → Log in

More Pediatric Genetic Syndromes and Dysmorphology (Detailed) MCQs

See all Pediatric Genetic Syndromes and Dysmorphology (Detailed) MCQs →