Right ventricular and pulmonary vascular reserve in asymptomatic BMPR2 mutation carriers
Section snippets
Subjects
Between 2012 and 2014, all consecutive BMPR2 mutation carriers assessed at our institute who were asymptomatic and had normal resting mean pulmonary artery pressure (mPAP) of <25 mm Hg were invited to participate in this study. Eleven subjects fulfilled the inclusion criteria and 8 were included in the study.
Eight control subjects volunteered to participate after responding to local advertisements. All subjects were: (1) healthy; (2) had no history of cardiovascular disease, symptoms or risk
Baseline characteristics
The baseline characteristics of the study population are depicted in Table 1. Controls and BMPR2 mutation carriers were of similar age and gender. All subjects were asymptomatic and none had been receiving negative chronotropic medications or pulmonary vasodilator therapy. Exercise capacity in the BMPR2 mutation carriers was reduced, as reflected by their low peak volume of oxygen consumption (VO2, 88 ± 24% of predicted for age and gender) and tended to be lower than in the controls (Table 1).
Discussion
Using contemporary invasive pressure and CMR-derived volume measurements with improved sensitivity to test our hypothesis of an association between BMPR2 mutation status and sub-clinical pulmonary vascular and RV dysfunction, we found that only a minority of mutation carriers had hemodynamic responses to exercise that could be considered abnormal. Thus, the presence of a mutation in BMPR2 by itself is not sufficient to develop pulmonary vascular disease. During hypoxic exercise, 3 of 8 BMPR2
Disclosure statement
M.D. has served as investigator, speaker, consultant or steering committee member for Actelion, Bayer, Eli Lilly, GlaxoSmithKline, Pfizer and United Therapeutics, and has received research grants from Actelion, GlaxoSmithKline and Pfizer. H.H. is on the speakers’ bureau and advisory board of Bayer, Boehringer-Ingelheim, Daiichi Sankyo, Bristol-Myers Squibb, Pfizer, Merck, Biotronik and St. Jude Medical.
The remaining authors have no conflicts of interest to disclose.
This study was funded by a
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