Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation
In: ISSN: 0903-1936, 2021
Online
academicJournal
Zugriff:
International audience ; Background 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. Methods 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. 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 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.
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Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation
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Autor/in / Beteiligte Person: | Montani, David ; Girerd, Barbara ; Jaïs, Xavier ; Laveneziana, Pierantonio ; Lau, Edmund M.T. ; Bouchachi, Amir ; Hascoët, Sébastien ; Günther, Sven ; Godinas, Laurent ; Parent, Florence ; Guignabert, Christophe ; Beurnier, Antoine ; Chemla, Denis ; Hervé, Philippe ; Eyries, Mélanie ; Soubrier, Florent ; Simonneau, Gérald ; Sitbon, Olivier ; Savale, Laurent ; Humbert, Marc ; Bicêtre, Hôpital ; Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay ; Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158) ; Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU) ; CHU Tenon AP-HP ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) ; CHU Saint-Antoine AP-HP ; Royal Prince Alfred Hospital Camperdown, Australia (RPAH) ; Hôpital Européen Georges Pompidou APHP (HEGP) ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO) ; CHU Pitié-Salpêtrière AP-HP ; Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN) ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN) ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP |
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Zeitschrift: | ISSN: 0903-1936, 2021 |
Veröffentlichung: | HAL CCSD ; European Respiratory Society, 2021 |
Medientyp: | academicJournal |
DOI: | 10.1183/13993003.04229-2020 |
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