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Historically, it has been associated with a high mortality rate, although, over the last decade, treatment has improved survival. <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> includes idiopathic <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">IPAH<\/jats:styled-content>), heritable <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">HPAH<\/jats:styled-content>), and <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> associated with certain medical conditions. The aetiology of <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> is heterogeneous, and genetics play an important role in some cases. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BMPR2<\/jats:styled-content><\/jats:italic>, encoding bone morphogenetic protein receptor 2, a member of the transforming growth factor\u2010\u03b2 superfamily of receptors, have been identified in 70% of cases of <jats:styled-content style=\"fixed-case\">HPAH<\/jats:styled-content>, and in 10\u201340% of cases of <jats:styled-content style=\"fixed-case\">IPAH<\/jats:styled-content>. Other genetic causes of <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> include mutations in the genes encoding activin receptor\u2010like type 1, endoglin, <jats:styled-content style=\"fixed-case\">SMAD9<\/jats:styled-content>, caveolin 1, and potassium two\u2010pore\u2010domain channel subfamily K member 3. Mutations in the gene encoding T\u2010box 4 have been identified in 10\u201330% of paediatric <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> patients, but rarely in adults with <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> in children is much more heterogeneous than in adults, and can be associated with several genetic syndromes, congenital heart disease, pulmonary disease, and vascular disease. In addition to rare mutations as a monogenic cause of <jats:styled-content style=\"fixed-case\">HPAH<\/jats:styled-content>, common variants in the gene encoding cerebellin 2 increase the risk of <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> by approximately two\u2010fold. A <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content> panel of genes is available for clinical testing, and should be considered for use in clinical management, especially for patients with a family history of <jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content>. Copyright \u00a9 2016 Pathological Society of Great Britain and Ireland. 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