The detection of biallelic pathogenic EIF2AK4 mutations is able to make precise and accurate molecular diagnoses of autosomal recessively inherited pulmonary capillary hemangiomatosis (PCH) and pulmonary veno-occlusive disease (PVOD), and this was documented in the 6th World Symposium on Pulmonary Hypertension [6]. This evidence concerns the gene EIF2AK4 and pulmonary venoocclusive disease.