TY -的T1 -肺动脉高血压筛查在成人携带< em > BMPR2 < / em >突变JF -欧洲呼吸杂志》乔和J - 10.1183/13993003.04229 -2020欧元六世- 58 - 1 SP - 2004229 AU Montani大卫AU - Girerd,芭芭拉盟——洁,泽维尔盟——Laveneziana Pierantonio盟——刘,埃德蒙M.T.盟——BouchachiAmir AU - Hascoet赛盟——冈瑟,斯文盟——Godinas Laurent盟——家长,佛罗伦萨AU - Guignabert,克利斯朵夫AU - Beurnier,安东尼盟——Chemla丹尼斯盟,Herve菲利普盟——巢窝,梅勒妮AU - Soubrier,弗洛伦特·盟——Simonneau杰拉尔德盟——Sitbon Olivier盟——Savale Laurent盟——亨伯特,遗传性肺动脉高压(PAH)最常见的原因是BMPR2基因杂合突变。基于专家共识，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，评估他们发生PAH的风险，并在高危人群中早期检测PAH。方法无症状BMPR2突变携带者在基线和每年进行至少2年的筛查(delphi2研究;ClinicalTrials.gov: NCT01600898)。年度筛查包括临床评估、心电图、肺功能检测、6分钟步行距离、心肺运动检测、胸片、超声心动图和脑钠肽(BNP)或n端(NT)-proBNP水平。根据预先设定的标准进行右心导管置入(RHC)。建议在基线时选择休息和运动时的RHC。结果55例受试者(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 ER -