Key result
Annual multimodal screening of asymptomatic BMPR2 carriers detects a ~2.3% yearly incidence of mild PAH.
Why the study?
To evaluate characteristics of asymptomatic BMPR2 mutation carriers, assess their risk of PAH occurrence, and detect PAH at an early stage.
Does annual multimodal screening detect early pulmonary arterial hypertension in asymptomatic BMPR2 mutation carriers?
Cohort (n=55)
Does annual multimodal screening detect early pulmonary arterial hypertension in asymptomatic BMPR2 mutation carriers?
Annual multimodal screening including right heart catheterization in asymptomatic BMPR2 mutation carriers can detect early-stage pulmonary arterial hypertension, which has an incidence of 2.3% per year in this high-risk population.
May support annual screening in BMPR2 carriers; hypothesis-generating without outcome data from randomized trials.
Background Heritable pulmonary arterial hypertension (PAH) is most commonly due to heterozygous mutations of theBMPR2gene. Based on expert consensus, guidelines recommend annual screening echocardiography in asymptomaticBMPR2mutation carriers. The main objectives of this study were to evaluate the characteristics of asymptomaticBMPR2mutation carriers, assess their risk of occurrence of PAH and detect PAH at an early stage in this high-risk population. Methods AsymptomaticBMPR2mutation 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. Results 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. Conclusions AsymptomaticBMPR2mutation 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.
No takes yet. Share an insight, caveat, or question.
Montani et al. (2020) conducted a cohort in Heritable pulmonary arterial hypertension (PAH) (n=55). Annual multimodal screening including right heart catheterisation was evaluated on Occurrence of PAH. Annual multimodal screening of asymptomatic BMPR2 mutation carriers detected mild PAH in 3.6% at baseline and an incidence of 2.3% per year during follow-up.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: