Genetic bases of pulmonary arterial hypertension

Abstract

Pulmonary arterial hypertension (PAH) is a heterogeneous disease where genes play an extremely important role. Hereditary PAH (hAPH) is defined as a genetic condition with an autosomal dominant inheritance pattern, incomplete penetrance, variable expressiveness, presenting an anticipatory phenomenon and grouping cases of familial PAH defined by the presence of two or more members of the family with PAH with or without identified germline variant and idiopathic PAH cases corresponding to isolated cases in the family with an identified germline variant. To establish the diagnosis of hAPH, it is necessary to confirm the diagnosis in at least two relatives (fHAP) or to identify the germline variant in an isolated case in the family (HAPi).