Pulmonary veno-occlusive disease (PVOD) is a rare type of pulmonary hypertension characterized by capillary damage or arterial pulmonary hypertension. Early lung transplantation is the only effective treatment for PVOD because of the lack of specificity in its clinical manifestations and its rapid progression and poor prognosis. A 28-year-old woman presented with exertional dyspnoea. A chest computed tomography scan revealed diffuse centrilobular ground glass opacities in both lungs, a ratio of the transverse diameter of the main pulmonary trunk to the ascending aorta of >1, and enlargement of the right ventricle and right atrium. A right atrial floating catheter test showed right ventricular pressure of 82/0/4 mmHg, mean pulmonary artery pressure of 83/34/53 mmHg, and pulmonary artery wedge pressure of 15/8/12 mmHg. A mutation was found in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene. Thus, the patient was diagnosed with PVOD and subsequently given standard bosentan treatment (62.5 mg twice a day). However, after 6 months of follow-up, there was no significant improvement in the pulmonary artery pressure or activity tolerance (6-minute walking test). Therefore, cardiopulmonary transplantation was performed. Early diagnosis and timely treatment of PVOD may improve the patient's prognosis.