{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T01:34:02Z","timestamp":1790645642673,"version":"4.1.0"},"reference-count":64,"publisher":"European Respiratory Society (ERS)","issue":"145","content-domain":{"domain":["ersjournals.com"],"crossmark-restriction":true},"short-container-title":["Eur Respir Rev"],"published-print":{"date-parts":[[2017,9,30]]},"abstract":"<jats:p>\n                    Mutations in the\n                    <jats:italic>BMPR2<\/jats:italic>\n                    gene, and more rarely in\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    ,\n                    <jats:italic>endoglin<\/jats:italic>\n                    ,\n                    <jats:italic>caveolin-1<\/jats:italic>\n                    ,\n                    <jats:italic>KCNK3<\/jats:italic>\n                    and\n                    <jats:italic>TBX4<\/jats:italic>\n                    genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the\n                    <jats:italic>EIF2AK4<\/jats:italic>\n                    gene predispose to heritable pulmonary veno-occlusive disease\/pulmonary capillary haemangiomatosis, an autosomal recessive disease with an unknown penetrance.\n                  <\/jats:p>\n                  <jats:p>\n                    In France, the national pulmonary hypertension referral centre offers genetic counselling and testing to adults and children. Predictive testing is also proposed to adult relatives at risk of carrying a predisposing mutation. In that context, we offer all asymptomatic\n                    <jats:italic>BMPR2<\/jats:italic>\n                    mutation carriers a programme to detect pulmonary arterial hypertension at an early phase, as recommended by the 2015 European Society Society of Cardiology\/European Respiratory Society pulmonary hypertension guidelines. Finally, pre-implantation genetic diagnosis has been conducted on five embryos from two couples in which the fathers were carriers of a pathogenic\n                    <jats:italic>BMPR2<\/jats:italic>\n                    mutation.\n                  <\/jats:p>","DOI":"10.1183\/16000617.0037-2017","type":"journal-article","created":{"date-parts":[[2017,9,6]],"date-time":"2017-09-06T23:14:11Z","timestamp":1504739651000},"page":"170037","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":35,"title":["Heritable pulmonary hypertension: from bench to 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