电子T1筛查肺动脉高压成人携带aBMPR2变异JF欧洲呼吸杂志JO Eur Respir J FD欧洲呼吸学会SP 2004229 DO 10.1183/1399188bet官网地址3003.04229-2020 VO 58 IS 1 A1 Montani, David A1 Girerd, Barbara A1 Jaïs, Xavier A1 Laveneziana, Pierantonio A1 Lau, Edmund M.T. A1 Bouchachi, Amir A1 Hascoët, Sébastien A1 Günther, Sven A1 Godinas, Laurent A1 Parent, Florence A1 Guignabert, Christophe A1 Beurnier, Antoine A1 Chemla, Denis A1 Hervé， Philippe A1 Eyries, Mélanie A1 Soubrier, Florent A1 Simonneau, Gérald A1 Sitbon，Olivier A1 Savale, Laurent A1 Humbert, Marc YR 2021 UL //www.qdcxjkg.com/content/58/1/2004229.abstract AB背景遗传性肺动脉高压(PAH)最常见的原因是BMPR2基因的杂合突变。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，评估其发生PAH的风险，并在该高危人群中早期发现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)。每年筛查包括临床评估、心电图、肺功能检查、6分钟步行距离、心肺运动试验、胸片、超声心动图和脑钠肽(BNP)或n末端(NT)-proBNP水平。根据预先定义的标准进行右心导管(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;年龄中位数为37岁)。基线时，超声心动图和NT-proBNP水平均未怀疑PAH。 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