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However, the phenotype of<jats:italic>GDF2<\/jats:italic>and<jats:italic>BMP10<\/jats:italic>carriers remains largely unexplored.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the characteristics and outcomes of PAH patients in<jats:italic>GDF2<\/jats:italic>and<jats:italic>BMP10<\/jats:italic>carriers from the French and Dutch pulmonary hypertension registries. A literature review explored the phenotypic spectrum of these patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>26 PAH patients were identified: 20 harbouring heterozygous<jats:italic>GDF2<\/jats:italic>variants, one homozygous<jats:italic>GDF2<\/jats:italic>variant, four heterozygous<jats:italic>BMP10<\/jats:italic>variants, and one with both<jats:italic>GDF2<\/jats:italic>and<jats:italic>BMP10<\/jats:italic>variants. The prevalence of<jats:italic>GDF2<\/jats:italic>and<jats:italic>BMP10<\/jats:italic>variants was 1.3% and 0.4%, respectively. Median age at PAH diagnosis was 30\u2005years, with a female\/male ratio of 1.9. Congenital heart disease (CHD) was present in 15.4% of the patients. At diagnosis, most of the patients (61.5%) were in New York Heart Association Functional Class III or IV with severe haemodynamic compromise (median (range) pulmonary vascular resistance 9.0 (3.3\u201340.6)\u2005WU). Haemoptysis was reported in four patients; none met the HHT criteria. Two patients carrying<jats:italic>BMP10<\/jats:italic>variants underwent lung transplantation, revealing typical PAH histopathology. The literature analysis showed that 7.6% of<jats:italic>GDF2<\/jats:italic>carriers developed isolated HHT, and identified cardiomyopathy and developmental disorders in<jats:italic>BMP10<\/jats:italic>carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>GDF2<\/jats:italic>and<jats:italic>BMP10<\/jats:italic>pathogenic variants are rare among PAH patients, and occasionally associated with CHD. HHT cases among<jats:italic>GDF2<\/jats:italic>carriers are limited according to the literature.<jats:italic>BMP10<\/jats:italic>full phenotypic ramifications warrant further investigation.<\/jats:p><\/jats:sec>","DOI":"10.1183\/13993003.01634-2023","type":"journal-article","created":{"date-parts":[[2024,3,21]],"date-time":"2024-03-21T16:45:20Z","timestamp":1711039520000},"page":"2301634","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":30,"title":["Pulmonary vascular phenotype identified in patients with<i>GDF2<\/i>(<i>BMP9<\/i>) or<i>BMP10<\/i>variants: an international multicentre 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