Article
Heritable pulmonary arterial hypertension: new genetic findings and environmental triggers.
Scientific reports - 29 Jan 2026
Shaukat Memoona, Grünig Ekkehard, Haas Simon, Haas Jan, Panahi Mohammad, Granzow Martin, Lange Tobias J, Stadler Stefan, Sommer Natascha, Dorfmüller Peter, Meder Benjamin, Harutyunova Satenik, Egenlauf Benjamin, Xanthouli Panagiota, Hinderhofer Katrin, Eichstaedt Christina A
Abstract excerpt
Our goal was to identify new environmental or genetic causes in heritable pulmonary arterial hypertension (HPAH) families outside the 18 known diagnostics PAH genes. PAH gene panel sequencing was performed for 47 HPAH families which revealed pathogenic variants in 39 families. Five of the remaining families agreed to whole exome sequencing and to fill in a drug and toxin exposure questionnaire. In Family 1 and 2,...
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