Eichstaedt Christina A, Bikou Olympia, Sommer Natascha, Schermuly Ralph T, Pullamsetti Soni S, Weissmann Norbert, Harbaum Lars, Tabeling Christoph, Wißmüller Max, Foris Vasile, Kuebler Wolfgang M, Hinderhofer Katrin, Olschewski Andrea, Kwapiszewska Grazyna
Thoraxklinik Heidelberg gGmbH am Universitätsklinikum Heidelberg und TLRC am Deutschen Zentrum für Lungenforschung (DZL), Heidelberg, Deutschland.
Institut für Humangenetik, Universität Heidelberg, Heidelberg, Deutschland.
Pneumologie. 2023 Nov;77(11):862-870. doi: 10.1055/a-2145-4663. Epub 2023 Nov 14.
The 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.
最近发布的欧洲肺动脉高压诊断和治疗新指南,对肺动脉高压患者的基因检测和咨询提供了迄今为止最为全面的描述。此外,还强调了对健康突变携带者进行临床筛查的重要性,以及对疑似肺静脉闭塞性疾病患者进行基因检测的重要性。我们结合近期数据阐述了指南中基因检测和咨询的各个部分,并给出了评论。最后,我们从索他洛尔开始展望了新的分子方法,涉及离子通道和新的治疗进展。