Weidemann Frank, Strotmann Joerg M, Niemann Markus, Herrmann Sebastian, Wilke Mario, Beer Meinrad, Voelker Wolfram, Ertl Georg, Emmert Andrea, Wanner Christoph, Breunig Frank
Department of Internal Medicine/Centres of Rare Diseases and Cardiovascular Medicine, Würzburg, Germany.
Ultrasound Med Biol. 2009 May;35(5):730-5. doi: 10.1016/j.ultrasmedbio.2008.10.010. Epub 2008 Dec 24.
Fabry disease is a rare X-linked lysosomal storage disorder leading to an accumulation of glycosphingolipids in all tissues and organs including the heart. Among the pathologies of myocardial involvement, reviews and registry data list affection of heart valves and its hemodynamic significance as predominant alterations during progression of the disease. We thought to approach this uncertainty with a systematic observational study. In a single center study, 111 patients with genetically proven Fabry disease were systematically investigated by echocardiography for abnormalities of the valves in the left (aortic and mitral valve) and right heart (pulmonary and tricuspid valve). In addition, 60 patients were followed by echocardiography for 2.7 +/- 1.5 y (range 1 to 6). Both valve stenosis and regurgitation were classified as mild, moderate or severe. Overall, no patient had severe heart valve abnormalities. The most frequent findings were mild aortic (n = 17), mitral (n = 57) and tricuspid (n = 38) valve regurgitation. Only two patients showed mild aortic valve stenosis. Moderate aortic (n = 1), mitral (n = 2) or tricuspid (n = 1) regurgitation were rarely detected. All Fabry patients in advanced stages (n = 9) had only mild mitral regurgitation and one of them had mild aortic and mitral regurgitation, moderate tricuspid regurgitation and mild aortic stenosis. Thirty patients had completely normal valve function. There was no significant change toward hemodynamic relevant heart valve abnormalities during follow-up. Mild left ventricular valve regurgitations are frequent in Fabry disease. However, these valve abnormalities are not the major limitations for the Fabry heart.
法布里病是一种罕见的X连锁溶酶体贮积症，可导致包括心脏在内的所有组织和器官中糖鞘脂蓄积。在心肌受累的病理情况中，综述和登记数据表明，心脏瓣膜病变及其血流动力学意义是该疾病进展过程中的主要改变。我们试图通过一项系统性观察研究来解决这一不确定性。在一项单中心研究中，对111例基因确诊的法布里病患者进行了超声心动图系统检查，以评估左心（主动脉瓣和二尖瓣）和右心（肺动脉瓣和三尖瓣）的瓣膜异常情况。此外，对60例患者进行了2.7±1.5年（范围1至6年）的超声心动图随访。瓣膜狭窄和反流均分为轻度、中度或重度。总体而言，没有患者存在严重的心脏瓣膜异常。最常见的发现是轻度主动脉瓣反流（n = 17）、二尖瓣反流（n = 57）和三尖瓣反流（n = 38）。只有2例患者表现为轻度主动脉瓣狭窄。很少检测到中度主动脉瓣反流（n = 1）、二尖瓣反流（n = 2）或三尖瓣反流（n = 1）。所有晚期法布里病患者（n = 9）仅有轻度二尖瓣反流，其中1例有轻度主动脉瓣和二尖瓣反流、中度三尖瓣反流和轻度主动脉瓣狭窄。30例患者的瓣膜功能完全正常。随访期间，与血流动力学相关的心脏瓣膜异常无显著变化。法布里病患者中轻度左心室瓣膜反流很常见。然而，这些瓣膜异常并非法布里病心脏的主要限制因素。
