Genetic diagnostics and molecular approaches in pulmonary arterial hypertension

Pneumologie. 2023 Nov;77(11):862-870. doi: 10.1055/a-2145-4663. Epub 2023 Nov 14.ABSTRACTThe recently published new European guidelines for diagnosis and treatment of pulmonary hypertension now offer the so far most extensive description of genetic testing and counselling for pulmonary arterial hypertension patients. In addition, the importance of a clinical screening of healthy mutation carriers is highlighted as well as the genetic testing of patients with a suspicion of pulmonary veno-occlusive disease. We frame the respective parts of the guidelines on genetic testing and counselling in the context of recent data and provide comments. Finally, we give an outlook on novel molecular approaches starting from Sotatercept, addressing ion channels and novel therapeutic developments.PMID:37963476 | DOI:10.1055/a-2145-4663

Source: Pneumologie - November 14, 2023 Category: Respiratory Medicine Authors: Christina A Eichstaedt Olympia Bikou Natascha Sommer Ralph T Schermuly Soni S Pullamsetti Norbert Weissmann Lars Harbaum Christoph Tabeling Max Wi ßmüller Vasile Foris Wolfgang M Kuebler Katrin Hinderhofer Andrea Olschewski Grazyna Kwapiszewska Source Type: research