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MYBPC3基因突变致儿童孤立性心肌致密化不全1例并文献复习

Henan Medical Research(2020)

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Abstract
孤立性心肌致密化不全(isolated ventricular non-compac-tion,IVNC)是一种特殊类型的心肌病,普遍认为心脏胚胎期心肌纤维致密化过程异常终止,导致两层(致密化层和非致密化层)心肌的形成.其表现为心室内异常粗大的肌小梁和交错的深隐窝为特征的一种心肌病,又称海绵样心肌、胚胎样心肌,主要累及左室,累及右室或者双室者少见.该病具有家族遗传倾向,在儿童患者中尤其明显.2008年欧洲心脏病学会(Europe-an Society of Cardiology,ESC)发表声明,将其归类为原发性遗传性心肌病.由于临床表现不典型,极易误漏诊.现将收集的1例IVNC报道如下.
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