Pulmonary Veno-Occlusive Disease Presenting as Congenital Heart Disease-Associated Pulmonary Hypertension

Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary hypertension rarely linked to congenital heart disease (CHD).

An infant with a ventricular septal defect developed pulmonary hypertension. At 3 months, cardiac catheterization showed operable hemodynamics with preserved pulmonary vasoreactivity. Pulmonary artery banding was performed. Despite tadalafil, macitentan, and prostacyclin, pulmonary vascular resistance increased without pulmonary edema. Lung perfusion scintigraphy demonstrated perfusion defects, prompting transplantation. At 2 years and 10 months, he underwent bilateral lung transplantation with intracardiac repair. The explanted lungs demonstrated fibrous intimal thickening of pulmonary venules and hemosiderin deposition, indicating PVOD.

PVOD may coexist with CHD and mimic CHD-associated pulmonary arterial hypertension, without pulmonary edema during vasodilator therapy.

PVOD should be considered in children with CHD developing progressive pulmonary hypertension despite favorable hemodynamics and preserved vasoreactivity. The absence of pulmonary edema during vasodilator therapy does not exclude PVOD.