Makaryus Amgad N, Zubrow Michael E, Marshall Jan D, Gillam Linda D, Mangion Judy R
Columbia University Medical Center, New York, New York, USA.
J Am Soc Echocardiogr. 2007 Dec;20(12):1359-63. doi: 10.1016/j.echo.2007.04.033. Epub 2007 Sep 6.
Alström syndrome is an extremely rare autosomal recessive genetic disorder characterized by infantile-onset cardiomyopathy (CMP), blindness, hearing impairment/loss, and obesity. Prior reports have demonstrated that the dilated CMP of Alström syndrome occurs in about 62% of patients with this syndrome. To date, there have been no reports examining the echocardiographic features of Alström-related heart disease.
Eleven patients diagnosed with Alström syndrome who underwent one or more transthoracic echocardiograms from 1994 to 2003 were retrospectively evaluated. A total of 16 transthoracic echocardiograms were comprehensively reviewed with an emphasis on chamber sizes, wall thickness, left ventricular (LV) and right ventricular (RV) systolic function, and valve function.
Four of 11 patients (36%) had evidence of global LV systolic dysfunction (quantitative ejection fraction [EF] range 9%-29%). Three of these 4 patients also had severe generalized RV systolic dysfunction, whereas one had normal RV systolic function. LV and RV dilation was present in 3 of 4. All patients with low EF had an apically tethered mitral valve closure pattern although only one of 4 had more than mild mitral regurgitation. Although 3 of 4 patients with low EF had an apically tethered tricuspid valve closure pattern, none had more than mild tricuspid regurgitation. Reduced EF was not associated with regional wall-motion abnormalities. Three of 11 patients (27%) overall and two of 4 of the patients with low EF (50%) had pericardial effusions.
The Alström CMP in this cohort of patients was typically dilated and nonsegmental with predominantly biventricular involvement. It was infrequently associated with myocardial hypertrophy. Apically tethered mitral and tricuspid valve closure patterns were visualized, although severe functional valvular insufficiency was not present. LV and left atrial dilation was observed in a number of patients without reduced EF, and may be an early stage in the development of the CMP.
阿尔斯特伦综合征是一种极其罕见的常染色体隐性遗传疾病，其特征为婴儿期发病的心肌病（CMP）、失明、听力障碍/丧失以及肥胖。先前的报告表明，阿尔斯特伦综合征的扩张型CMP约见于62%的该综合征患者。迄今为止，尚无关于阿尔斯特伦相关心脏病超声心动图特征的报告。
对1994年至2003年期间接受了一次或多次经胸超声心动图检查的11例诊断为阿尔斯特伦综合征的患者进行回顾性评估。对总共16次经胸超声心动图进行了全面审查，重点关注心腔大小、室壁厚度、左心室（LV）和右心室（RV）收缩功能以及瓣膜功能。
11例患者中有4例（36%）有全心LV收缩功能障碍的证据（定量射血分数[EF]范围为9%-29%）。这4例患者中有3例还伴有严重的全身性RV收缩功能障碍，而1例RV收缩功能正常。4例中有3例存在LV和RV扩张。所有EF值低的患者均有二尖瓣瓣尖附着关闭模式，尽管4例中只有1例有中度以上二尖瓣反流。虽然4例EF值低的患者中有3例有三尖瓣瓣尖附着关闭模式，但均无中度以上三尖瓣反流。EF降低与节段性室壁运动异常无关。11例患者中有3例（27%）总体上存在心包积液，EF值低的4例患者中有2例（50%）存在心包积液。
该组患者的阿尔斯特伦CMP通常为扩张型且无节段性，主要累及双心室。很少与心肌肥厚相关。可见二尖瓣和三尖瓣瓣尖附着关闭模式，尽管不存在严重的功能性瓣膜关闭不全。在一些EF未降低的患者中观察到LV和左心房扩张，这可能是CMP发展的早期阶段。
