Department of Cardiology, Children's Hospital Affiliated of Zhengzhou University, Zhengzhou, Henan, China.
Beijing Children's Hospital, Beijing, China.
BMJ Paediatr Open. 2024 May 31;8(1):e002024. doi: 10.1136/bmjpo-2023-002024.
This study aimed to describe the genetic and clinical characteristics of paediatric cardiomyopathy in a cohort of Chinese patients.
We retrospectively reviewed the clinical history and mutation spectrum of 75 unrelated Chinese paediatric patients who were diagnosed with cardiomyopathy and referred to our hospital between January 2016 and December 2022.
Seventy-five children with cardiomyopathy were enrolled, including 32 (42.7%) boys and 43 (57.3%) girls. Dilated cardiomyopathy was the most prevalent cardiomyopathy (61.3%) in the patients, followed by hypertrophic cardiomyopathy (17.3%), ventricular non-compaction (14.7%), restrictive cardiomyopathy (5.3%) and arrhythmogenic right ventricular cardiomyopathy (1.3%). Whole-exome sequencing and targeted next-generation sequencing identified 34 pathogenic/likely pathogenic variants and 1 copy number variant in 14 genes related to cardiomyopathy in 30 children, accounting for 40% of all patients. p.Asp65Asn and p.Glu500Lys have not been reported previously. The follow-up time ranged from 2 months to 6 years. Twenty-two children died (mortality rate 29%).
Comprehensive genetic testing was associated with a 40% yield of causal genetic mutations in Chinese cardiomyopathy cases. We found diversity in the mutation profile in different patients, which suggests that the mutational background of cardiomyopathy in China is heterogeneous, and the findings may be helpful to those counselling patients and families.
本研究旨在描述中国一组小儿心肌病患者的遗传和临床特征。
我们回顾性分析了 2016 年 1 月至 2022 年 12 月期间因心肌病就诊于我院的 75 例无亲缘关系的中国儿科患者的临床病史和突变谱。
共纳入 75 例小儿心肌病患者，其中男 32 例（42.7%），女 43 例（57.3%）。扩张型心肌病是患者中最常见的心肌病（61.3%），其次是肥厚型心肌病（17.3%）、心室非致密化（14.7%）、限制型心肌病（5.3%）和致心律失常性右室心肌病（1.3%）。全外显子组测序和靶向下一代测序在 30 例患儿的 14 个与心肌病相关的基因中发现了 34 个致病性/可能致病性变异和 1 个拷贝数变异，占所有患者的 40%。p.Asp65Asn 和 p.Glu500Lys 以前尚未报道过。随访时间为 2 个月至 6 年。22 例患儿死亡（死亡率 29%）。
综合基因检测与中国心肌病病例中 40%的因果基因突变有关。我们发现不同患者的突变谱存在多样性，这表明中国心肌病的突变背景具有异质性，研究结果可能有助于对患者及其家属进行咨询。
