Compound Heterozygous Missense Variants in RPL3L Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review

被引：5

作者：

Das, Bibhuti B. ^{[1
]}

Gajula, Viswanath ^{[2
]}

Arya, Sandeep ^{[2
]}

Taylor, Mary B. ^{[2
]}

机构：

[1] Univ Mississippi, Dept Pediat, Div Cardiol, Childrens Mississippi,Med Ctr, Jackson, MS 39216 USA

[2] Univ Mississippi, Dept Pediat, Div Crit Care, Childrens Mississippi,Med Ctr, Jackson, MS 39216 USA

来源：

CHILDREN-BASEL | 2022年 / 9卷 / 10期

关键词：

familial dilated cardiomyopathy; RPL3L; pediatric heart failure;

D O I：

10.3390/children9101495

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 (RPL3L) 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 RPL3L-related DCM cases and their outcomes. Bi-allelic variants in RPL3L have been reported in only seven patients from four unrelated families in the literature. RPL3L is a newer and likely pathogenic gene associated with a severe form of early-onset dilated cardiomyopathy with poor prognosis necessitating heart transplantation.

引用

页数：6

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