儿童原发性扩张型心肌病的临床特征及遗传学分析

doi:10.7499/j.issn.1008-8830.2303077

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Abstract Objective To study the genetic characteristics, clinical characteristics, and prognosis of children with primary dilated cardiomyopathy (DCM). Methods A retrospective analysis was performed on the medical data of 44 children who were diagnosed with DCM in Hebei Children's Hospital from July 2018 to February 2023. According to the genetic testing results, they were divided into two groups: gene mutation-positive group (n=17) and gene mutation-negative group (n=27). The two groups were compared in terms of clinical data at initial diagnosis and follow-up data. Results Among the 44 children with DCM, there were 21 boys (48%) and 23 girls (52%). Respiratory symptoms including cough and shortness of breath were the most common symptom at initial diagnosis (34%, 15/44). The detection rate of gene mutations was 39% (17/44). There were no significant differences between the two groups in clinical characteristics, proportion of children with cardiac function grade Ⅲ or Ⅳ, brain natriuretic peptide levels, left ventricular ejection fraction, and left ventricular fractional shortening at initial diagnosis (P>0.05). The median follow-up time was 23 months, and 9 children (20%) died, including 8 children from the gene mutation-positive group, among whom 3 had TTN gene mutation, 2 had LMNA gene mutation, 2 had TAZ gene mutation, and 1 had ATAD3A gene mutation. The gene mutation-positive group had a significantly higher mortality rate than the gene mutation-negative group (P<0.05). Conclusions There is no correlation between the severity of DCM at initial diagnosis and gene mutations in children. However, children with gene mutations may have a poorer prognosis.

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	Articles by authors
	ZHENG Kui
	WU Fei
	LOU Mei-Na
	WANG Ying-Xue
	LI Bo
	HAO Jing-Xia
	WANG Yong-Li
	ZHANG Ying-Qian
	QI Huan-Jun

Key words： Dilated cardiomyopathy Gene mutation Prognosis Child

Received: 15 March 2023

Cite this article:

ZHENG Kui,WU Fei,LOU Mei-Na et al. Clinical and genetic characteristics of children with primary dilated cardiomyopathy[J]. CJCP, 2023, 25(7): 726-731.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2303077 OR http://www.zgddek.com/EN/Y2023/V25/I7/726

	1 傅立军, 张浩. AHA儿童心肌病的分类和诊断科学声明解读[J]. 中国循环杂志, 2019, 34(z1): 49-53. DOI: 10.3969/j.issn.1000-3614.2019.增刊.011.
	Jammal Addin MB, Young D, McCarrison S, et al. Dilated cardiomyopathy in a national paediatric population[J]. Eur J Pediatr, 2019, 178(8): 1229-1235. PMID: 31187263. DOI: 10.1007/s00431-019-03404-w.
	Wang Y, Han B, Fan Y, et al. Next-generation sequencing reveals novel genetic variants for dilated cardiomyopathy in pediatric Chinese patients[J]. Pediatr Cardiol, 2022, 43(1): 110-120. PMID: 34350506. DOI: 10.1007/s00246-021-02698-8.
	Quiat D, Witkowski L, Zouk H, et al. Retrospective analysis of clinical genetic testing in pediatric primary dilated cardiomyopathy: testing outcomes and the effects of variant reclassification[J]. J Am Heart Assoc, 2020, 9(11): e016195. PMID: 32458740. PMCID: PMC7428992. DOI: 10.1161/JAHA.120.016195.
	郑奎, 娄美娜, 张英谦. TTN基因突变致儿童扩张型心肌病的研究进展[J]. 中国当代儿科杂志, 2023, 25(2): 217-222. PMID: 36854701. PMCID: PMC9979384. DOI: 10.7499/j.issn.1008-8830.2208163.
	6 郑奎, 张英谦, 刘露, 等. 32例儿童心肌病基因检测与临床特征分析[J]. 临床心血管病杂志, 2022, 38(7): 566-571. DOI: 10.13201/j.issn.1001-1439.2022.07.010.
	Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424. PMID: 25741868. PMCID: PMC4544753. DOI: 10.1038/gim.2015.30.
	Khan RS, Pahl E, Dellefave-Castillo L, et al. Genotype and cardiac outcomes in pediatric dilated cardiomyopathy[J]. J Am Heart Assoc, 2022, 11(1): e022854. PMID: 34935411. PMCID: PMC9075202. DOI: 10.1161/JAHA.121.022854.
	郑奎, 刘露, 张英谦. MYH7基因突变致儿童肥厚型心肌病的研究进展[J]. 中国当代儿科杂志, 2023, 25(4): 425-430. PMID: 37073850. PMCID: PMC10120347. DOI: 10.7499/j.issn.1008-8830.2211044.
	de Frutos F, Ochoa JP, Navarro-Pe?alver M, et al. Natural history of MYH7-related dilated cardiomyopathy[J]. J Am Coll Cardiol, 2022, 80(15): 1447-1461. PMID: 36007715. DOI: 10.1016/j.jacc.2022.07.023.
	Atemin S, Todorov T, Maver A, et al. MYH7-related disorders in two Bulgarian families: novel variants in the same region associated with different clinical manifestation and disease penetrance[J]. Neuromuscul Disord, 2021, 31(7): 633-641. PMID: 34053846. DOI: 10.1016/j.nmd.2021.04.004.
	van der Meulen MH, Herkert JC, den Boer SL, et al. Genetic evaluation of a nation-wide Dutch pediatric DCM cohort: the use of genetic testing in risk stratification[J]. Circ Genom Precis Med, 2022, 15(5): e002981. PMID: 36178741. PMCID: PMC9622377. DOI: 10.1161/CIRCGEN.120.002981.
	13 田庄, 芦阳. 核纤层蛋白心肌病的发病机制及诊治要点[J]. 临床心血管病杂志, 2023, 39(2): 85-87. DOI: 10.13201/j.issn.1001-1439.2023.02.002.
	Ferradini V, Cosma J, Romeo F, et al. Clinical features of LMNA-related cardiomyopathy in 18 patients and characterization of two novel variants[J]. J Clin Med, 2021, 10(21): 5075. PMID: 34768595. PMCID: PMC8584896. DOI: 10.3390/jcm10215075.
	Paldino A, De Angelis G, Merlo M, et al. Genetics of dilated cardiomyopathy: clinical implications[J]. Curr Cardiol Rep, 2018, 20(10): 83. PMID: 30105555. DOI: 10.1007/s11886-018-1030-7.
	Kayvanpour E, Sedaghat-Hamedani F, Amr A, et al. Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals[J]. Clin Res Cardiol, 2017, 106(2): 127-139. PMID: 27576561. DOI: 10.1007/s00392-016-1033-6.
	17 石琳, 傅立军, 黄美容, 等. Barth综合征3例临床表现及基因突变分析[J]. 临床儿科杂志, 2015, 33(7): 614-617. DOI: 10.3969/j.issn.1000-3606.2015.07.004.
	Pang J, Bao Y, Mitchell-Silbaugh K, et al. Barth syndrome cardiomyopathy: an update[J]. Genes (Basel), 2022, 13(4): 656. PMID: 35456462. PMCID: PMC9030331. DOI: 10.3390/genes13040656.
	Roberts AE, Nixon C, Steward CG, et al. The Barth syndrome registry: distinguishing disease characteristics and growth data from a longitudinal study[J]. Am J Med Genet A, 2012, 158A(11): 2726-2732. PMID: 23045169. DOI: 10.1002/ajmg.a.35609.
	Florczyk-Soluch U, Polak K, Dulak J. The multifaceted view of heart problem in Duchenne muscular dystrophy[J]. Cell Mol Life Sci, 2021, 78(14): 5447-5468. PMID: 34091693. PMCID: PMC8257522. DOI: 10.1007/s00018-021-03862-2.
	Pioner JM, Fornaro A, Coppini R, et al. Advances in stem cell modeling of dystrophin-associated disease: implications for the wider world of dilated cardiomyopathy[J]. Front Physiol, 2020, 11: 368. PMID: 32477154. PMCID: PMC7235370. DOI: 10.3389/fphys.2020.00368.