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双向心室心肌致密化不全儿科患者的基因型和表型分析

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

机构信息

Department of Pediatrics, Faculty of Medicine University of Toyama Japan.

Legal Medicine, Faculty of Medicine University of Toyama Japan.

出版信息

J Am Heart Assoc. 2024 Nov 5;13(21):e035614. doi: 10.1161/JAHA.124.035614. Epub 2024 Nov 4.

DOI:10.1161/JAHA.124.035614
PMID:39494597
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11935668/
Abstract

BACKGROUND

Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy characterized by prominent trabeculations. Detailed characteristics of biventricular noncompaction (BiVNC) remain unknown. This study aimed to elucidate the clinical characteristics and genetic landscape of BiVNC.

METHODS AND RESULTS

We recruited children with left ventricular noncompaction from Japanese multi-institutional centers from 2013 to 2021. Left ventricular noncompaction was classified as BiVNC, congenital heart disease, arrhythmia, dilated cardiomyopathy, or normal function. In these patients, cardiomyopathy-associated genes were screened. A total of 234 patients (127 male; mean age, 4 months [range, 0-6.6 years]) were enrolled in this study, of whom 25 had BiVNC; 55, normal function; 84, dilated cardiomyopathy; 38, congenital heart disease; and 32, arrhythmia. BiVNC was diagnosed during the perinatal period in 10 patients, in whom the prevalence was higher than that in other patients. A total of 14 patients in the group with BiVNC had congenital heart disease, but not necessarily right heart lesions. Left ventricular dyskinesis was frequently observed in the lateral wall (24%) and apex (28%). Eleven pathogenic variants were found in 11 patients with BiVNC (44.0%). The group with BiVNC had a higher ratio of mitochondrial and developmental gene variants than the other groups. Among all groups, the group with BiVNC had the worst survival rate (=0.0009).

CONCLUSIONS

Pediatric patients with BiVNC had a high rate of ventricular dyskinesis and poor outcome. A comprehensive and careful screening for disease-causing genes and phenotype may help identify specific patients with left ventricular noncompaction and mortality-related cardiac phenotypes.

摘要

背景

左心室心肌致密化不全（LVNC）是一种遗传性心肌病，其特征是突出的小梁。双心室心肌致密化不全（BiVNC）的详细特征尚不清楚。本研究旨在阐明 BiVNC 的临床特征和遗传特征。

方法和结果

我们从 2013 年至 2021 年从日本多机构中心招募了左心室心肌致密化不全患儿。左心室心肌致密化不全分为 BiVNC、先天性心脏病、心律失常、扩张型心肌病或正常功能。在这些患者中，筛选了与心肌病相关的基因。共纳入 234 例患者（127 例男性；平均年龄 4 个月[范围，0-6.6 岁]），其中 25 例为 BiVNC；55 例为正常功能；84 例为扩张型心肌病；38 例为先天性心脏病；32 例为心律失常。10 例患者在围产期诊断为 BiVNC，其患病率高于其他患者。BiVNC 组中有 14 例患者患有先天性心脏病，但不一定有右心病变。外侧壁（24%）和心尖（28%）常观察到左心室运动障碍。在 11 例 BiVNC 患者中发现了 11 种致病性变异（44.0%）。BiVNC 组的线粒体和发育基因变异比例高于其他组。在所有组中，BiVNC 组的生存率最差（=0.0009）。

结论

儿科患者的 BiVNC 有较高的心室运动障碍发生率和较差的预后。对致病基因和表型进行全面、仔细的筛查，可能有助于发现特定的左心室心肌致密化不全和与死亡率相关的心脏表型患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43f5/11935668/3cf77122bfa2/JAH3-13-e035614-g006.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43f5/11935668/3cf77122bfa2/JAH3-13-e035614-g006.jpg

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本文引用的文献

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Biventricular non-compaction cardiomyopathy: Rare disease and far rarer case.双心室心肌致密化不全：罕见疾病，病例更为罕见。
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