A 3-week-old neonate has mild central cyanosis, bounding peripheral pulses, and a single loud second heart sound with a systolic murmur at the left sternal border. Chest X-ray shows cardiomegaly with increased pulmonary vascular markings. Which genetic association should be specifically looked for?

• A Deletion 22q11.2 ✓
• B Trisomy 21
• C Turner syndrome 45,X
• D Noonan syndrome

Explanation

Persistent truncus arteriosus features a single arterial trunk with a single S2, run-off causing bounding pulses, and mild cyanosis with pulmonary overcirculation. It is strongly associated with deletion 22q11.2 (DiGeorge syndrome), so calcium levels, thymic shadow and FISH testing are indicated. Turner syndrome is classically linked with bicuspid aortic valve and coarctation, and Noonan syndrome with dysplastic pulmonary valve stenosis.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.