伴心脏损害的黏脂质储积症4例并文献复习

Mucolipidosis involved heart:4 cases presentation and literature review

目的总结黏脂质储积症(ML)的主要临床特点,尤其是心脏受损的表现,以提高认识。方法回顾分析2004年1月—2012年2月收治的4例ML患儿的临床表现、实验室检查、心电图和超声心动图资料,并对相关文献进行复习。结果 4例ML患儿中,1例为MLⅡ,3例为MLⅢ。1例有心脏杂音,1例有心电图明显异常,4例均有心瓣膜损害,1例并有左右心室壁增厚。结论 ML患儿心脏受累比例高,表现多样化,需及时进行全面评估。

Objective To summarize characterization of cardiac mucolipidosis （ML） involvement and improve the understanding of this disease. Methods Retrospectively reviewed the 4 ML cases from January 2004 to February 2012, sum- marized the cardiac manifestation, laboratory test, electrocardiography （ECG） and echocardiography of these eases and related references. Results In the four patients, one was ML II and the other three was ML III, 1 case had cardiac murmur, 1 case had abnormal ECG, all of these cases had valvular disease, and 1 case combined with left and right ventricular hypertrophy. Conclusion A variety of abnormalities may occur in patients with ML, comprehensive evaluation is needed.