Pulmonary veno-occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive PH on the distinct genetic impact. A 29-month-old boy presented with a loss of consciousness. He had severe PH refractory to pulmonary vasodilators. Hypoxemia and ground-glass opacity on the chest computed tomography were present, and significant pulmonary edema developed after the introduction of continuous intravenous prostaglandin I2. Based on the clinical diagnosis of PVOD, he underwent a single living-donor lobar lung transplantation with the right lower lobe of his mother. The pathological findings of his explanted lung showed intimal thickening and luminal narrowing of the pulmonary vein. A genetic test revealed a novel heterozygous splice acceptor variant (c.77-2A>C) in BMPR2, which is typically associated with I/HPAH. This is the first pediatric case of PVOD with BMPR2 variant, supporting the concept that I/HPAH and PVOD are part of a spectrum of pulmonary vascular disease.
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