An Infantile Case of Pulmonary Veno-Occlusive Disease Confirmed by Autopsy

Abstract

Pulmonary veno-occlusive disease (PVOD) is a rare condition that results in pulmonary hypertension caused by the occlusion of the peripheral pulmonary veins. A 1-month old infant with patent ductus arteriosus presented in critical condition with pulmonary hypertensive crisis. Cardiac catheterization revealed severe pulmonary hypertension (pulmonary to systemic arterial pressure ratio, 1.3; mean pulmonary arterial pressure, 43 mmHg; pulmonary wedge pressure, 6 mmHg; pulmonary vascular resistance, 10.3 units·m²). The patient was started on combination therapy, including continuous intravenous epoprostenol. Although drugs targeting pulmonary arterial hypertension (PAH) were initially able to improve his hemodynamic status, he gradually developed pulmonary edema. Histopathological finding of lung biopsy specimen showed PAH, so he was diagnosed with idiopathic PAH. However, he experienced recurrent pulmonary edema and progressive right heart failure. One year after admission, the patient died from severe heart failure. Histopathological autopsy findings of the lung showed pulmonary venous changes and intimal thickening of the pulmonary veins, and a diagnosis of PVOD was made. Pulmonary arterial changes included cellular and fibrous thickening of the intima, severe medial hypertrophy, and adventitial thickening with plexiform lesions (Heath–Edwards grade 4). A correct diagnosis in this case could not be made by single lung biopsy. Our experience suggests that we should suspect PVOD when patients receiving PAH therapy develop recurrent pulmonary edema, as the only available method of PVOD treatment is early lung transplantation.