A compound heterozygous EIF2AK4 mutation cause pulmonary veno-occlusive disease

Aim Idiopathic pulmonary arterial hypertension(IPAH) and pulmonary veno-occlusive disease (PVOD) are undistinguished on clinical practice. We proposed that gene test might be a promising and feasible method in the future.Methods A 20-year-old woman was diagnosed as IPAH in 2013while a diagnosis of PVOD was also suspected. The genomic DNA was extracted from peripheral blood and gene panel testing was performed.