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 ofBMPR2mutations are at high risk of developing PAH [2]。对这些受试者的仔细随访可能有助于检测早期疾病,对靶向疗法的反应更有利。但是,最佳筛选方法存在不确定性。欧洲最近的一项多中心研究表明,特发性PAH(IPAH)患者的亲属表现出运动期间异常高的肺动脉压力(PAP)或在低氧呼吸中的患病率增加[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 healthyBMPR2carriers.
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±sd35±14 yrs. The 38 controls were aged mean±sd36±10年,与性别和身体表面积相匹配。五个无症状亲戚和两名指数IPAH患者是携带者…