Article
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
The European respiratory journal - 1 Jul 2021
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
Abstract excerpt
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...
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