与严重扩张型心肌病相关基因中的复合杂合错义变异：一例报告及文献综述
Compound Heterozygous Missense Variants in Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review.
作者信息
Das Bibhuti B, Gajula Viswanath, Arya Sandeep, Taylor Mary B
机构信息
Department of Pediatrics, Division of Cardiology, Children's of Mississippi, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Department of Pediatrics, Division of Critical Care, Children's of Mississippi, University of Mississippi Medical Center, Jackson, MS 39216, USA.
出版信息
Children (Basel). 2022 Sep 29;9(10):1495. doi: 10.3390/children9101495.
Whole exome sequencing has identified an infant girl with fulminant dilated cardiomyopathy (DCM), leading to severe acute heart failure associated with ribosomal protein large 3-like () gene pathologic variants. Other genetic tests for mitochondrial disorders by sequence analysis and deletion testing of the mitochondrial genome were negative. Secondary causes for DCM due to metabolic and infectious etiologies were ruled out. She required a Berlin-Excor left ventricular assist device due to worsening of her heart failure as a bridge to orthotopic heart transplantation. At three months follow-up after heart transplantation, she has been doing well. We reviewed the literature on published -related DCM cases and their outcomes. Bi-allelic variants in have been reported in only seven patients from four unrelated families in the literature. is a newer and likely pathogenic gene associated with a severe form of early-onset dilated cardiomyopathy with poor prognosis necessitating heart transplantation.
全外显子组测序发现一名患有暴发性扩张型心肌病（DCM）的女婴，其患有严重急性心力衰竭，与核糖体蛋白大亚基3样（）基因的病理变异有关。通过线粒体基因组序列分析和缺失检测进行的其他线粒体疾病基因检测均为阴性。排除了因代谢和感染病因导致DCM的继发原因。由于心力衰竭恶化，她需要植入柏林心体外膜肺氧合（Berlin-Excor）左心室辅助装置作为原位心脏移植的过渡。心脏移植术后三个月随访时，她情况良好。我们回顾了已发表的与相关DCM病例及其预后的文献。文献中仅报道了来自四个无关家庭的七名患者存在双等位基因变异。是一个较新的且可能致病的基因，与一种严重的早发性扩张型心肌病相关，预后较差，需要进行心脏移植。
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