Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
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DOI：
10.1183/13993003.04229-2020
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发表时间：
2021-07
期刊：
影响因子：
--
通讯作者：
Humbert M
中科院分区：
文献类型：
--
作者：
Montani D;Girerd B;Jaïs X;Laveneziana P;Lau EMT;Bouchachi A;Hascoët S;Günther S;Godinas L;Parent F;Guignabert C;Beurnier A;Chemla D;Hervé P;Eyries M;Soubrier F;Simonneau G;Sitbon O;Savale L;Humbert M
遗传性肺动脉高压（PAH）最常见的原因是BMPR 2基因的杂合突变。基于专家共识，指南建议对无症状BMPR 2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价无症状BMPR 2突变携带者的特征，评估其PAH发生的风险，并在该高危人群中早期检测PAH。无症状BMPR 2突变携带者在基线时进行筛选，每年进行一次，至少持续2年（德尔菲-2研究; ClinicalTrials.gov：NCT 01600898）。 年度筛选包括临床评估、ECG、肺功能检查、6分钟步行距离、心肺运动试验、胸部X线摄影、超声心动图和脑钠肽（BNP）或N-末端（NT）-proBNP水平。根据预定标准进行右心导管插入术（RHC）。在基线时提出了休息和运动时的可选RHC。纳入了55例受试者（26例男性;中位年龄37岁）。基线时，基于超声心动图和NT-proBNP水平，未怀疑PAH。所有受试者在入选时均接受了RHC，确定了2例轻度PAH病例（3.6%）和12例运动肺动脉高压受试者（21.8%）。在长期随访（118.8患者-年随访）时，诊断出另外3例病例，PAH发生率为每年2.3%（男性每年0.99%，女性每年3.5%）。 在末次随访时，所有PAH病例在口服治疗时均保持低风险状态。无症状BMPR 2突变携带者发生PAH事件的风险很大。需要进行国际多中心研究，以证实经过完善的多模式筛查计划和定期随访可以早期发现PAH。无症状BMPR 2突变携带者每年发生PAH的风险为2.3%。德尔菲-2为未来的国际多中心研究提供了平台，以完善BMPR 2突变携带者的多模式筛选算法。http://bit.ly/3oi2KJ1
Heritable pulmonary arterial hypertension (PAH) is most commonly due to heterozygous mutations of the BMPR2 gene. Based on expert consensus, guidelines recommend annual screening echocardiography in asymptomatic BMPR2 mutation carriers. The main objectives of this study were to evaluate the characteristics of asymptomatic BMPR2 mutation carriers, assess their risk of occurrence of PAH and detect PAH at an early stage in this high-risk population. Asymptomatic BMPR2 mutation carriers underwent screening at baseline and annually for a minimum of 2 years (DELPHI-2 study; ClinicalTrials.gov: NCT01600898). Annual screening included clinical assessment, ECG, pulmonary function tests, 6-min walk distance, cardiopulmonary exercise testing, chest radiography, echocardiography and brain natriuretic peptide (BNP) or N-terminal (NT)-proBNP level. Right heart catheterisation (RHC) was performed based on predefined criteria. An optional RHC at rest and exercise was proposed at baseline. 55 subjects (26 males; median age 37 years) were included. 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. 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
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作者：
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