Utility of Pulmonary Arterial Hypertension Screening in Adults With BMPR2 Mutation

pulmonary arterial hypertension xray front view
pulmonary arterial hypertension xray front view
Asymptomatic carriers of the BMPR2 mutation have a significant risk of developing incident pulmonary arterial hypertension.

Asymptomatic carriers of the encoding bone morphogenetic protein receptor type 2 (BMPR2) mutation have a significant risk of developing incident pulmonary arterial hypertension (PAH), according to study results (DELPHI-2; ClinicalTrials.gov Identifier: NCT01600898) published in the European Respiratory Journal.

Heritable PAH is most commonly a result of heterozygous mutations of the BMPR2 gene and annual screening echocardiography is recommended in asymptomatic carriers. However, this recommendation is based on expert consensus because no screening strategy has ever been evaluated for this population. In addition, no previous study has assessed the risk of incident PAH in individuals with BMPR2 mutations using a longitudinal follow-up design.

Therefore, researchers evaluated the characteristics of individuals with asymptomatic BMPR2 mutations, assessed their risk of occurrence of PAH, and detected PAH at an early stage in 55 individuals (median age, 37 years).

At baseline, no PAH was suspected based on echocardiography and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels. All participants accepted right heart catheterization (RHC) at inclusion, which identified 2 mild PAH cases (3.6%) and 12 participants with exercise pulmonary hypertension (21.8%). At long-term follow-up (118.8 patients/y follow-up), 3 additional cases were diagnosed, yielding a PAH incidence of 2.3% per year (0.99%/y in men and 3.5%/y in women). As of last follow-up, all PAH cases remained at low-risk status on oral therapy.

“Data from this study indicate that a multimodal screening program followed by yearly careful follow-up may be implemented in clinical practice in order to allow early detection and treatment of PAH in BMPR2 mutation carriers,” the researchers concluded. They added that international multicenter studies are needed to confirm that screening programs will allow for early detection of PAH.

Disclosure: Several study authors declared affiliations with the pharmaceutical industry. Please see the original reference for a full list of authors’ disclosures.


Montani D, Girerd B, Jaïs X, et al. Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation. Eur Respir J. Published online December 30, 2020. doi:10.1183/13993003.04229-2020