Pulmonary hypertension is a rare disease (with an estimated prevalence between 5 and 52 cases per million) defined as an abnormal increase in pulmonary artery pressure, which can be idiopathic (with no known cause), hereditary, or associated with systemic diseases. It is a progressive disease usually associated with a poor prognosis.
In recent years, major advances have been achieved regarding its pathophysiology and the application of genetics to the management of patients suspected of this disease, leading to a decrease in the number of cases diagnosed as idiopathic. Among hereditary forms of pulmonary artery hypertension (PAH), approximately 70% of cases are due to mutations in the BMPR2 gene, for which an autosomal dominant inheritance pattern and incomplete penetrance have been described. Some diseases with autosomal recessive inheritance are also associated with PAH, such as pulmonary veno-occlusive disease/ pulmonary capillary hemangiomatosis (PVOD/PCH), associated with biallelic mutations in the EIF2AK4 gene. Pathogenic variants associated with this disease have been recently described in other genes, which are also included in this panel.