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- W1815692520 abstract "Germline mutations in the gene encoding for bone morphogenic receptor-2 (BMPR2) can cause pulmonary arterial hypertension (PAH). Molecular genetic diagnosis and counseling is currently available but not broadly implemented due to poor translation in direct clinical benefit. We aim to investigate the influence of BMPR2 mutation on clinical outcome in PAH and selected parameters of long-term transthoracic echocardiography (TTE) and cardiopulmonary exercise test (CPET) follow-up in heritable PAH (HPAH) patient relatives. BMPR2 mutation screening was performed in 124 sporadic or familial idiopathic PAH patients. Clinical, functional, hemodynamic parameters and outcome were compared in 23 BMPR2 mutation carriers and 101 noncarriers. Predictive screening was carried out in 53 HPAH relatives. TTE and CPET were performed repeatedly in 18 carriers and 15 noncarriers HPAH patient relatives, respectively. As compared with noncarriers, BMPR2 mutation carriers were younger at diagnosis, had higher mean pulmonary artery, and pulmonary vascular resistance but similar time to clinical worsening and overall survival. Baseline TTE and CPET parameters were similar in HPAH relatives carrying or not BMPR2 mutation, and remained unchanged along an average 6-year follow-up in HPAH relatives carrying BMPR2 mutation, except for 2 patients who developed severe symptomatic PAH between 1 st and 2 nd follow-up. Our data confirm that BMPR2 mutation carriers with PAH are diagnosed earlier than noncarriers, with more severe hemodynamic and functional profile. In addition, HPAH relatives carrying BMPR2 mutation do not display early TTE or CPET impairments allowing predicting the development of PAH." @default.
- W1815692520 created "2016-06-24" @default.
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- W1815692520 date "2014-09-01" @default.
- W1815692520 modified "2023-09-26" @default.
- W1815692520 title "Single center experience with systematic diagnostic and predictive genetic screening for pulmonary arterial hypertension" @default.
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