% 0期刊文章%大卫Montani %一个芭芭拉Girerd % Xavier jai % Pierantonio Laveneziana %埃德蒙M.T. Lau % Amir Bouchachi %一个斯文·塞巴斯蒂安Hascoet % % Laurent Godinas %佛罗伦萨父母%一个克利斯朵夫Guignabert %一个丹尼斯Chemla安东尼Beurnier % % Philippe Herve %一个弗洛伦特·Soubrier梅兰妮巢窝% %一个Olivier Sitbon杰拉尔德Simonneau % % Laurent Savale % Marc亨伯特% T筛查肺动脉高血压成人携带BMPR2突变% D J 2021% R 10.1183/13993003.04229 -2020%欧洲呼吸杂志% P 2004229 % V 58% N 1% X背景遗传肺动脉高血压(PAH)是最常见的由于BMPR2基因的杂合突变。基于专家共识,指南建议在无症状BMPR2突变携带者的年度检查超声心动图。本研究的主要目标是评估无症状BMPR2突变携带者的特点,评估其风险发生的多环芳烃和检测多环芳烃在这高危人群的早期阶段。方法无症状BMPR2接受筛查突变携带者在基线和每年至少2年(DELPHI-2研究;ClinicalTrials.gov: NCT01600898)。每年一次的检查包括临床评估、心电图、肺功能测试,6分钟步行距离,心肺运动试验,评价胸片、超声心动图和脑利钠肽(BNP)或氨基(NT) -proBNP水平。右心catheterisation (RHC)是基于预定义的标准执行。提出了一个可选的RHC静止和运动在基线。结果55科目(26男性;平均年龄37年)包括在内。在基线,没有怀疑基于超声心动图和多环芳烃中位数水平以上病人的水平。所有受试者接受RHC包容,发现两例轻度PAH(3.6%)和12个受试者锻炼肺动脉高压(21.8%)。 At long-term follow-up (118.8 patient-years of follow-up), three additional cases were diagnosed, yielding a PAH incidence of 2.3% per year (0.99% per year in males and 3.5% per year in females). All PAH cases remained at low-risk status on oral therapy at last follow-up.Conclusions Asymptomatic BMPR2 mutation carriers have a significant risk of developing incident PAH. International multicentre studies are needed to confirm that refined multimodal screening programmes with regular follow-up allow early detection of PAH.Asymptomatic BMPR2 mutation carriers have a 2.3% per year risk of developing PAH. DELPHI-2 provides the platform for future international multicentre studies to refine multimodal screening algorithms in BMPR2 mutation carriers. http://bit.ly/3oi2KJ1 %U //www.qdcxjkg.com/content/erj/58/1/2004229.full.pdf