van Gent M W F, Post M C, Luermans J G L M, Snijder R J, Westermann C J J, Plokker H W M, Overtoom T T, Mager J J
Department of Cardiology, St Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, The Netherlands.
Eur Respir J. 2009 Jan;33(1):85-91. doi: 10.1183/09031936.00049008. Epub 2008 Sep 17.
Pulmonary arteriovenous malformations (PAVMs) are associated with severe neurological complications in patients with hereditary haemorrhagic telangiectasia (HHT). The objective of the present study was to prospectively establish the diagnostic value of transthoracic contrast echocardiography (TTCE) as a screening technique for PAVM using chest high-resolution computed tomography (HRCT) as the gold standard for PAVMs. All consecutive adult patients referred for HHT screening underwent a chest HRCT (n = 299), TTCE (n = 281), arterial blood gas analysis (n = 291), shunt fraction measurement (n = 111) and chest radiography (n = 296). TTCE was positive in 87 (58.8%), 12 (16.7%) and four (6.7%) patients, and chest HRCT was positive in 54 (36.5%), three (4.2%) and zero (0%) patients with a definite, possible and negative clinical diagnosis of HHT, respectively. Two patients with a negative TTCE were diagnosed with PAVMs after computed tomography; in both cases the PAVMs were too small to be treated by embolotherapy. The sensitivity of TTCE was 97% (95% confidence interval (CI) 93.6-98.3) and negative predictive value 99% (95% CI 96.9-99.8). The other diagnostic tests showed a considerable lower diagnostic value. The present prospective study shows that transthoracic contrast echocardiography has an excellent diagnostic value and can be used as an initial screening procedure for pulmonary arteriovenous malformations. The high false-positive rate of transthoracic contrast echocardiography possibly represents microscopic pulmonary arteriovenous malformations.
肺动静脉畸形（PAVM）与遗传性出血性毛细血管扩张症（HHT）患者的严重神经并发症相关。本研究的目的是以前瞻性方式确定经胸对比超声心动图（TTCE）作为PAVM筛查技术的诊断价值，以胸部高分辨率计算机断层扫描（HRCT）作为PAVM的金标准。所有因HHT筛查而转诊的成年连续患者均接受了胸部HRCT（n = 299）、TTCE（n = 281）、动脉血气分析（n = 291）、分流分数测量（n = 111）和胸部X线摄影（n = 296）。TTCE在明确、可能和临床诊断为阴性的HHT患者中分别有87例（58.8%）、12例（16.7%）和4例（6.7%）呈阳性，而胸部HRCT分别有54例（36.5%）、3例（4.2%）和0例（0%）呈阳性。两名TTCE阴性的患者在计算机断层扫描后被诊断为PAVM；在这两种情况下，PAVM都太小，无法通过栓塞治疗。TTCE的敏感性为97%（95%置信区间（CI）93.6 - 98.3），阴性预测值为99%（95% CI 96.9 - 99.8）。其他诊断测试显示诊断价值相当低。本前瞻性研究表明，经胸对比超声心动图具有出色的诊断价值，可作为肺动静脉畸形的初始筛查程序。经胸对比超声心动图的高假阳性率可能代表微观肺动静脉畸形。
