Nannapaneni Hemanth, Ghaleb Stephanie, Arya Sandeep, Gajula Viswanath, Taylor Mary B, Das Bibhuti B
University of Mississippi Medical Center Program, Jackson, MS 39216, USA.
Department of Pediatrics, Division of Pediatric Cardiology, Children's of Mississippi Heart Center, University of Mississippi Medical Center, Jackson, MS 39216, USA.
J Cardiovasc Dev Dis. 2022 Feb 22;9(3):65. doi: 10.3390/jcdd9030065.
Neonatal dilated cardiomyopathy (DCM) is rare with high etiologic heterogeneity. Recently, biallelic, autosomal recessive, pathogenic variants in RPL3L (ribosomal protein L3-like) have been reported in the literature with severe early-onset DCM. In the present brief report, we identified two pathogenic RPL3L variants, each harbored in unaffected heterozygous parents: mother (RPL3L c.1076_1080delCCGTG (p.Ala359Glyfs*4)) and father (RPL3L c.80G > A (p.Gly27Asp)). Pathogenic variants were segregated as autosomal recessive to two offspring born with compound heterozygous RPL3L variants and affected by neonatal DCM. This is the second report in the literature to the best of our knowledge and our findings support the pathogenicity of biallelic RPL3L pathologic variants associated with rapidly progressive neonatal DCM and heart failure with a poor prognosis.
新生儿扩张型心肌病（DCM）较为罕见，病因具有高度异质性。最近，文献报道了RPL3L（核糖体蛋白L3样）基因的双等位基因、常染色体隐性致病变异与严重早发型DCM有关。在本简短报告中，我们鉴定出两个致病的RPL3L变异，分别存在于未受影响的杂合子父母体内：母亲（RPL3L c.1076_1080delCCGTG（p.Ala359Glyfs*4））和父亲（RPL3L c.80G>A（p.Gly27Asp））。致病变异以常染色体隐性方式遗传给两个出生时携带复合杂合RPL3L变异且患有新生儿DCM的后代。据我们所知，这是文献中的第二篇报告，我们的研究结果支持双等位基因RPL3L致病变异与快速进展的新生儿DCM及预后不良的心力衰竭相关的致病性。
