Clinical diagnostic features of viral myocarditis to dilated cardiomyopathy

doi:10.3877/cma.j.issn.2095-655X.2022.04.005

Abstract

Abstract:

Objective

To investigate the clinical diagnostic features of viral myocarditis to dilated cardiomyopathy.

Methods

The clinical data of a patient who had a 9-year transformation from viral myocarditis to dilated cardiomyopathy were retrospectively evaluated.

Results

The patient utilized drugs with insufficient treatment and suffered chest tightness and palpitations 5 times after a cold in 9 years. The patient's left ventricular ejection fraction and interventricular septal thickness varied significantly over the course of 9 years, and they have been declining since 2018. In June 2017, a cardiac MRI revealed significant ventricular wall weakening, with a maximal left ventricular end-diastolic diameter of 60.15 mm. The patient′s genetic test results indicated dilated cardiomyopathy, and the DSP gene′s c. 2974-2 A>G site mutation was discovered. The physiology of the heart remained irreversible even after 9 years of the patient taking medication consistently and attempting to avoid disease-relevant triggers.

Conclusions

Patients who carry relevant pathogenic genes are more likely to develop the dilated cardiomyopathy. For the early identification of the cause and the management of illness development, it is crucial to support individualized precision treatment and the early discovery of the associated pathogenic genes.

Key words: Viral myocarditis, Cardiomyopathy, dilated, Gene

Xiaoqian Yu, Rui Xu, Wen Huang, Xia Wu, Xueqiang Zhao, Fei Zheng, Xinran Li. Clinical diagnostic features of viral myocarditis to dilated cardiomyopathy[J]. Chinese Journal of Diagnostics(Electronic Edition), 2022, 10(04): 238-242.

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References 25

[1]	卢少玲，张烁．病毒性心肌炎演变为扩张型心肌病的机制[J]．心血管康复医学杂志，2016，25(3):341-343.DOI：10.3969/j.issn.1008-0074.2016.03.32.
[2]	Lasrado N, Reddy J．An overview of the immune mechanisms of viral myocarditis[J]．Rev Med Virol，2020，30(6):1-14.DOI：10.1002/rmv.2131.
[3]	Kitaoka H, Tsutsui H, Kubo T，et al.JCS/JHFS 2018 guideline on the diagnosis and treatment of cardiomyopathies[J]．Circ J，2021，85(9):1590-1689.DOI：10.1253/circj.CJ-20-0910.
[4]	中华医学会医学遗传学分会遗传病临床实践指南撰写组．遗传性心肌病的临床实践指南[J]．中华医学遗传学杂志，2020，37(3):300-307.DOI：10.3760/cma.j.issn.1003-9406.2020.03.013.
[5]	中华医学会心血管病学分会，中国心肌炎心肌病协作组．中国扩张型心肌病诊断和治疗指南[J]．临床心血管病杂志，2018，34(5):421-434.DOI：10.13201/j.issn.1001-1439.2018.05.001.
[6]	蒋泉秀，王婷婷，张悦，等．病毒性心肌炎演变为扩张型心肌病1例[J/CD]．世界最新医学信息文摘(连续型电子期刊)，2020，20(50):211,214.DOI：10.3969/j.issn.1671-3141.2020.50.097.
[7]	左汉恒，李银平，张程征，等．酷似扩张型心肌病的急性心肌梗死诊断特征并文献复习[J/CD]．中华诊断学电子杂志，2022，10(2):88-93.DOI：10.3877/cma.j.issn.2095-655X.2022.02.004.
[8]	Bozkurt B, Colvin M, Cook J，et al.Current diagnostic and treatment strategies for specific dilated cardiomyopathies：a scientific statement from the American heart association[J]．Circulation，2016，134(23):e579-e646.DOI：10.1161/CIR.0000000000000455.
[9]	中华心血管病杂志编辑委员会心肌炎心肌病对策专题组，杨英珍．关于成人急性病毒性心肌炎诊断参考标准和采纳世界卫生组织及国际心脏病学会联合会工作组关于心肌病定义和分类的意见[J]．中华心血管病杂志，1999，27(6):405-407.
[10]	Miller DT, Lee K, Gordon AS，et al.Recommendations for reporting of secondary findings in clinical exome and genome sequencing，2021 update：a policy statement of the American College of Medical Genetics and Genomics (ACMG)[J]．Genet Med，2021，23(8):1391-1398.DOI：10.1038/s41436-021-01171-4。
[11]	Orphanou N, Papatheodorou E, Anastasakis A．Dilated cardiomyopathy in the era of precision medicine：latest concepts and developments[J]．Heart Fail Rev，2022，27(4):1173-1191.DOI：10.1007/s10741-021-10139-0.
[12]	Carnevale A, Rosas-Madrigal S, Rosendo-Gutiérrez R，et al.Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing[J]．Mol Genet Genomic Med，2020，8(11):e1504.DOI：10.1002/mgg3.1504.
[13]	Nguyen TV, Tran Vu MT, Do T，et al.Genetic determinants and genotype-phenotype correlations in Vietnamese patients with dilated cardiomyopathy[J]．Circ J，2021，85(9):1469-1478.DOI：10.1253/circj.CJ-21-0077.
[14]	McNally EM, Mestroni L. Dilated cardiomyopathy: genetic determinants and mechanisms[J]．Circ Res，2017，121(7):731-748.DOI：10.1161/CIRCRESAHA.116.309396.
[15]	姜逊渭，王健怡，肖婷婷，等．DSP复合杂合基因突变与扩张型心肌病的发生有关[J]．内科理论与实践，2020，15(2):94-98.DOI：10.16138/j.1673-6087.2020.02.007.
[16]	Mazzarotto F, Tayal U, Buchan RJ，et al. Reevaluating the genetic contribution of monogenic dilated cardiomyopathy[J]．Circulation，2020，141(5):387-398.DOI：10.1161/CIRCULATIONAHA.119.037661.
[17]	Zegkos T, Panagiotidis T, Parcharidou D，et al.Emerging concepts in arrhythmogenic dilated cardiomyopathy[J]．Heart Fail Rev，2021，26(5):1219-1229.DOI：10.1007/s10741-020-09933-z.
[18]	Pugh TJ, Kelly MA, Gowrisankar S，et al.The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing[J]．Genet Med，2014，16(8):601-608.DOI：10.1038/gim.2013.204.
[19]	Yuan ZY, Cheng LT, Wang ZF，et al.Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy[J]．Chin Med J (Engl)，2021，134(15):1771-1779.DOI：10.1097/CM9.0000000000001581.
[20]	Heliö K, Kangas-Kontio T, Weckström S, et al. DSP p．(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy[J]．BMC Med Genet，2020，21(1):19.DOI：10.1186/s12881-020-0955-z.
[21]	Merlo M, Masè M, Vitrella G, et al. Usefulness of addition of magnetic resonance imaging to echocardiographic imaging to predict left ventricular reverse remodeling in patients with nonischemic cardiomyopathy[J]．Am J Cardiol，2018，122(3):490-497.DOI：10.1016/j.amjcard.2018.04.017.
[22]	Cojan-Minzat BO, Zlibut A, Agoston-Coldea L．Non-ischemic dilated cardiomyopathy and cardiac fibrosis[J]. Heart Fail Rev, 2021, 26(5):1081-1101. DOI：10.1007/s10741-020-09940-0.
[23]	陈瑞珍．病毒性心肌炎后扩张型心肌病的临床认知[J]．临床心血管病杂志，2022，38(2):85-87.DOI：10.13201/j.issn.1001-1439.2022.02.001.
[24]	Fatkin D, Huttner IG, Kovacic JC，et al.Precision medicine in the management of dilated cardiomyopathy：JACC State-of-the-Art Review[J]．J Am Coll Cardiol，2019，74(23):2921-2938.DOI：10.1016/j.jacc.2019.10.011.
[25]	Morales A, Kinnamon DD, Jordan E，et al.Variant interpretation for dilated cardiomyopathy：refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study[J]．Circ Genom Precis Med，2020，13(2):e002480.DOI：10.1161/CIRCGEN.119.002480.

日期	肌钙蛋白Ⅰ(μg/L)	红细胞沉降率(mm/h)	超敏C反应蛋白(mg/L)	白细胞计数(×10⁹/L)
2012-03-05	0.61	8		4.87
2017-06-13		9	<0.15
2018-03-16	<0.01		<0.15	5.54
2019-09-19	0.07		0.16	7.52
2021-09-01	0.02		0.38	8.34

日期	肌钙蛋白Ⅰ(μg/L)	红细胞沉降率(mm/h)	超敏C反应蛋白(mg/L)	白细胞计数(×10⁹/L)
2012-03-05	0.61	8		4.87
2017-06-13		9	<0.15
2018-03-16	<0.01		<0.15	5.54
2019-09-19	0.07		0.16	7.52
2021-09-01	0.02		0.38	8.34

基因	核苷酸变异	氨基酸变异	染色体位置	变异类型	位点致病性	疾病/表型
DSP	c.2794-2 A>G	－	Chr6：7577190	剪切区单核苷酸变异	致病	扩张型心肌病、致右室心律失常心肌病B型
TRDH	c.532 G>T	p.Glu178	Chr6：123837304	无义变异	可能致病	儿茶酚胺敏感性多形性室性心动过速5型
KCNH2	c.2413 delG	p.A805Rfs 18	Chr6：150647246	移码缺失变异	临床意义未明	长QT综合征、短QT综合征、家族性房颤、Brugada综合征

基因	核苷酸变异	氨基酸变异	染色体位置	变异类型	位点致病性	疾病/表型
DSP	c.2794-2 A>G	－	Chr6：7577190	剪切区单核苷酸变异	致病	扩张型心肌病、致右室心律失常心肌病B型
TRDH	c.532 G>T	p.Glu178	Chr6：123837304	无义变异	可能致病	儿茶酚胺敏感性多形性室性心动过速5型
KCNH2	c.2413 delG	p.A805Rfs 18	Chr6：150647246	移码缺失变异	临床意义未明	长QT综合征、短QT综合征、家族性房颤、Brugada综合征

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