Genetic Background, Genetic Counselling and Testing in Patients with Pulmonary Arterial Hypertension

Pulmonary arterial hypertension (PAH) is a rare and progressive disease. It is characterized by increased pulmonary arterial pressure and resistance. Genetic causes can be identified in 85% of hereditary PAH and 15% of idiopathic PAH patients. The main gene remains the bone morphogenetic protein receptor type 2 (BMPR2). However, 17 other PAH genes mainly associated with the BMPR2 signalling pathway have been reported and warrant genetic testing. The new guidelines strengthen the value of genetic counselling and testing for PAH patients and healthy family members of patients with disease causing variants. In this article, we shed light on the genetic background of PAH, how genetic screening is performed and how it may help to decide upon a differential diagnosis. We also explain the procedure of genetic testing and how the results should be communicated to the patients within the legal frame work.