• Barbara Girerd, Edmund Lau, David Montani, and Marc Humbert.
• aUniversité Paris-Sud, Faculté de Médecine, Université Paris-Saclay bService de Pneumologie, Centre de référence de l'hypertension pulmonaire, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre cINSERM UMR_S 999, Hôpital Marie Lannelongue, Le Plessis Robinson, France.
• Curr Opin Pulm Med. 2017 Sep 1; 23 (5): 386-391.

Purpose Of ReviewHeritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes. Heritable pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH) is an autosomal recessive disease because of biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene. The 2015 european society of cardiology (ESC) and european respiratory society (ERS) pulmonary hypertension guidelines recommend genetic counselling and testing to adults and children with PAH or PVOD/PCH as well as in adult relatives at risk of carrying a predisposing mutation.Recent FindingsIn France, genetic counseling and testing are offered to all patients displaying sporadic or familial form of PAH or PVOD/PCH and to their relatives at high risk of carrying a predisposing mutation. Patients with a heritable form of PAH are younger at diagnosis with a worse hemodynamic and a dismal prognosis. Patients with a heritable form of PVOD/PCH are younger at diagnosis with a worse response to specific PAH therapies. A program to detect PAH in an early phase was offered to all asymptomatic BMPR2 mutation carriers, according to the 2015 ESC/ERS guidelines. Finally, preimplantation genetic diagnosis has been performed in families with a history of BMPR2 mutations.SummaryGenetic counseling and testing has to be implemented in pulmonary hypertension centers.

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