A newborn with hypotonia, feeding difficulties, and a distinctive facial phenotype (flat face, upslanting palpebral fissures, epicanthal folds, single palmar crease) is confirmed to have trisomy 21. Which of the following is the MOST common cause of death in Down syndrome children beyond infancy?
- A Pulmonary arterial hypertension from unrepaired CHD ✓
- B Congenital heart disease (AVSD) before surgical correction
- C Atlantoaxial instability causing sudden quadriplegia
- D Leukemia (most commonly AMKL/TMD in neonates; ALL in older children)
Explanation
In the current era of routine CHD surgery, pulmonary arterial hypertension (PAH) developing from uncorrected or late-corrected left-to-right shunts (particularly AVSD/VSD) has emerged as a leading cause of death in Down syndrome children beyond infancy. Down syndrome children are uniquely susceptible to PAH: they develop Eisenmenger syndrome more rapidly and at lower shunt sizes than chromosomally normal children, partly due to smaller peripheral pulmonary vasculature and increased vasoconstriction. Leukemia is a significant risk (10–20× general population) but deaths from PAH exceed it in the current surgical era. AMKL/TMD are specific to the neonatal period.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.