PT -期刊文章盟大卫Montani AU -芭芭拉Girerd盟Xavier洁盟Pierantonio Laveneziana盟——埃德蒙M.T. Sebastien Hascoet刘盟-阿米尔Bouchachi盟盟-斯文·盟- Laurent Godinas盟-佛罗伦萨父母非盟-克利斯朵夫Guignabert盟-安东尼Beurnier AU -丹尼斯Chemla AU - Philippe Herve盟梅勒妮巢窝AU -弗洛伦特·Soubrier盟杰拉尔德Simonneau AU - Olivier Sitbon AU - Laurent Savale AU -马克·亨伯特TI -肺动脉高血压筛查在成人携带< em > BMPR2 < / em >突变援助- 10.1183/13993003.04229 -2020 DP - 2021年7月01 TA -欧洲呼吸杂志》第六PG - 2004229 - 58 IP - 1 4099 - //www.qdcxjkg.com/content/58/1/2004229.short 4100 - //www.qdcxjkg.com/content/58/1/2004229.full所以欧元和J2021 7月01;58 AB -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。 All subjects accepted RHC at inclusion, which identified two mild PAH cases (3.6%) and 12 subjects with exercise pulmonary hypertension (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