Pulmonary Hypertension Associated With Vitamin C Deficiency Is Rapidly Reversible

We report 4 children (aged 3-9 years) with severe pulmonary hypertension (PH) associated with vitamin C deficiency. All presented with either musculoskeletal symptoms or cardiorespiratory deterioration with peripheral edema. Multiple nutritional deficiencies were identified in all children, and 2 had autistic spectrum disorder. Initial echocardiography results demonstrated severe PH with right ventricular dysfunction and significantly elevated N-terminal pro-B-type natriuretic peptide levels. In 2 patients presenting with musculoskeletal symptoms, specialist radiologic review revealed subtle features of scurvy that provided early diagnostic clues before laboratory confirmation. Vitamin C levels were undetectable where samples were processed prior to replacement, highlighting the importance of securing viable samples before treatment initiation for diagnostic certainty. All children received vitamin C replacement therapy, with 3 also receiving concurrent sildenafil. Remarkably, all demonstrated rapid clinical and echocardiographic improvement following vitamin C initiation, with complete resolution within 3 months. Importantly, 1 child receiving sildenafil alone showed no therapeutic response until vitamin C was added, indicating that improvement requires correction of the underlying deficiency rather than pulmonary vasodilation alone. This case series demonstrates rapid reversibility of vitamin C deficiency-associated PH and emphasizes the importance of considering this diagnosis in children with restricted diets and unexplained PH.