Koskenvuo Juha W, Engblom Erik, Kantola Ilkka M, Hartiala Jaakko J, Saraste Antti, Kiviniemi Tuomas O, Mononen Ilkka, Saraste Markku
Department of Clinical Physiology, Nuclear Medicine and PET Centre, Turku University Hospital, Turku, Finland.
Clin Physiol Funct Imaging. 2009 May;29(3):177-80. doi: 10.1111/j.1475-097X.2008.00851.x.
It has been reported that the endocardium in Fabry disease has a binary appearance on transthoracic echocardiography. It has been suggested that this sign could be used with good accuracy to differentiate Fabry disease from hypertrophic cardiomyopathy and even as a first filter to screen for suspected Fabry disease.
Therefore, we performed a blinded echocardiography in a non-selected population of patients with Fabry disease and matched controls. We included 23 echocardiographic studies of Fabry patients.
Two of the Fabry patients had binary appearance of the endocardium. One of them had left ventricular hypertrophy (LVH) and the other had a normal left ventricular mass. Binary appearance of the endocardium was detected in four of the controls, and one of them had LVH. Subgroup analysis of patients who had LVH indicated a sensitivity of 12.5% and a specificity of 66.7% for binary appearance of the endocardium to detect Fabry disease as the underlying cause of LVH. Overall, binary appearance of the endocardium had a sensitivity and a specificity of 15.4 and 73.3%, respectively, to distinguish patients with Fabry disease from controls in our population.
Binary appearance of the endocardium is not feasible for screening Fabry disease by echocardiography.
据报道，法布里病患者的心内膜在经胸超声心动图检查中呈现出二元表现。有人提出，该征象可用于准确区分法布里病与肥厚型心肌病，甚至可作为筛查疑似法布里病的首要筛选指标。
因此，我们对未经过挑选的法布里病患者及匹配的对照组进行了盲法超声心动图检查。我们纳入了23例法布里病患者的超声心动图研究。
2例法布里病患者的心内膜呈现二元表现。其中1例有左心室肥厚（LVH），另1例左心室质量正常。4例对照组患者的心内膜检测到二元表现，其中1例有左心室肥厚。对有左心室肥厚的患者进行亚组分析表明，心内膜二元表现检测法布里病作为左心室肥厚潜在病因的敏感性为12.5%，特异性为66.7%。总体而言，在我们的研究人群中，心内膜二元表现区分法布里病患者与对照组的敏感性和特异性分别为15.4%和73.3%。
通过超声心动图筛查法布里病，心内膜二元表现不可行。
