Pediatric Pulmonary Hypertension

BACKGROUND: Pediatric pulmonary hypertension comprises a variety of etiologies across different age groups, requiring a systematic approach to diagnosis in children. CASE SUMMARY: A 7-year-old boy with nonverbal autism, oral aversion, and resolved muscular ventricular septal defect presented with heart failure and was found to have severe pulmonary hypertension. The initial diagnosis and treatment course was altered after a misleading cause, and he was ultimately found to have undetectable vitamin C levels. After repletion, he was weaned off pulmonary hypertension therapy and received nutritional supplementation via a gastrotomy tube. DISCUSSION: Chronic vitamin C deficiency can lead to pulmonary hypertension, and pediatric patients with neurodevelopmental disorders are at a higher risk of developing nutritional deficiencies. TAKE-HOME MESSAGE: This case emphasizes the importance of having a broad differential for pulmonary hypertension, with a systematic approach to thinking beyond congenital heart disease-related, autoimmune-related, and idiopathic pulmonary hypertension in children.