@article {Montani2004229, author = {Montani, David and Girerd, Barbara and Ja{}s, Xavier and Laveneziana, Pierantonio and Lau, Edmund M.T. and Bouchachi, Amir and Hasco{}t, s {e bastien and G{}nther, Sven and Godinas, Laurent and Parent, Florence and Guignabert, Christophe and Beurnier, Antoine and Chemla, Denis and Herv{} e，菲利普和巢窝,M {\ ' e}拉妮和Soubrier、小马和Simonneau G {\ ' e}醛和Sitbon,奥利弗和Savale,劳伦和亨伯特,马克•}title ={筛查肺动脉高血压成人携带BMPR2突变},体积= {58}= {1},elocation-id = {2004229} = {2021}, doi = {10.1183/13993003.04229 -2020},背景遗传性肺动脉高压(PA188bet官网地址H)最常见的原因是BMPR2基因杂合突变。根据专家共识，指南建议对无症状BMPR2突变携带者进行年度超声心动图筛查。本研究的主要目的是评估无症状BMPR2突变携带者的特征，评估他们PAH发生的风险，并在该高危人群中早期检测PAH。方法:对无症状BMPR2突变携带者进行基线筛查和至少每年筛查2年(delphi2研究;ClinicalTrials.gov: NCT01600898)。每年的筛查包括临床评估、心电图、肺功能检查、6分钟步行距离、心肺运动测试、胸片、超声心动图和脑钠肽(BNP)或n -末端(NT)-proBNP水平。右心导管(RHC)是根据预先确定的标准进行的。基线时建议在休息和锻炼时可选择RHC。结果55例(男性26例;中位年龄37岁)。 At baseline, no PAH was suspected based on echocardiography and NT-proBNP levels. 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}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/58/1/2004229}, eprint = {//www.qdcxjkg.com/content/58/1/2004229.full.pdf}, journal = {European Respiratory Journal} }