Echocardiography of pulmonary vascular function in asymptomatic carriers of BMPR2 mutations

• Verfasst von: Pavelescu, Adriana [VerfasserIn]
• Verfasst von: Grünig, Ekkehard [VerfasserIn]
• Titel: Echocardiography of pulmonary vascular function in asymptomatic carriers of BMPR2 mutations
• Verf.angabe: Adriana Pavelescu, Rebecca Vanderpool, Jean-Luc Vachiéry, Ekkehard Grunig, Robert Naeije
• Umfang: 3 S.
• Fussnoten: Published online October 31, 2012 ; Gesehen am 03.07.2018
• Titel Quelle: Enthalten in: European respiratory journal
• Jahr Quelle: 2012
• Band/Heft Quelle: 40(2012), 5, S. 1287-1289
• ISSN Quelle: 1399-3003
• DOI: doi:10.1183/09031936.00021712
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1577233018

Abstract

To the Editors: Pulmonary arterial hypertension (PAH) is a rare, life-threatening dyspnoea-fatigue syndrome, caused by progressive increase in pulmonary vascular resistance (PVR) and eventual right ventricular failure [1]. The heritable form of PAH has been shown to be associated with mutations of the gene encoding the bone morphogenetic protein receptor-2 ( BMPR2 ). Asymptomatic carriers of BMPR2 mutations are at high risk of developing PAH [2]. Careful follow-up of these subjects might help to detect early-stage disease with a more favourable response to targeted therapies. However, there is uncertainty about the optimal screening method. A recent European multicentre study showed that relatives of patients with idiopathic PAH (IPAH) present with an increased prevalence of abnormally high pulmonary artery pressure (PAP) during exercise or during low-oxygen breathing [3]. In that study, measurements of pulmonary vascular function were limited to a systolic PAP (sPAP) estimated from the maximum tricuspid regurgitation velocity (TRV) assessed by Doppler echocardiography. Here, we report on additional measurements performed in one of the participating centres, providing insight into abnormal pulmonary vascular distensibility and hypoxia-induced PVR in healthy BMPR2 carriers. This study was part of a larger multicentre European project, which included 291 relatives of 109 IPAH patients and 191 age-matched controls [3]. The participating PAH centre in Brussels, Belgium, contributed with 35 relatives of 10 index patients with IPAH and 38 healthy controls. The 35 relatives were aged mean±sd 35±14 yrs. The 38 controls were aged mean±sd 36±10 yrs, and matched for sex and body surface area. Five of the asymptomatic relatives and two of the index IPAH patients were carriers …