一名4岁女童因基因突变导致心房静止，出现进行性心房心肌纤维化。 - Suppr

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Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an gene mutation.

作者信息

Kato Yoshiaki, Nozaki Yoshihiro, Takahashi-Igari Miho, Sugano Masato, Makita Naomasa, Horigome Hitoshi

机构信息

Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

Division of Pediatric Cardiology, National Cerebral and Cardiovascular Center, Suita, Japan.

出版信息

HeartRhythm Case Rep. 2022 Jul 2;8(9):636-638. doi: 10.1016/j.hrcr.2022.06.010. eCollection 2022 Sep.

DOI:10.1016/j.hrcr.2022.06.010

PMID:36147716

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9485770/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc8f/9485770/aeab9d8c16d1/gr1.jpg

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Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an gene mutation.

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Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.

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Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.

JACC Clin Electrophysiol. 2018 May;4(5):569-579. doi: 10.1016/j.jacep.2018.03.006. Epub 2018 May 2.

Relationship of Echocardiographic Scores Adjusted for Body Surface Area to Age, Sex, Race, and Ethnicity: The Pediatric Heart Network Normal Echocardiogram Database.

Circ Cardiovasc Imaging. 2017 Nov;10(11). doi: 10.1161/CIRCIMAGING.117.006979.

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.

Cardiovasc Res. 2017 Jan;113(1):102-111. doi: 10.1093/cvr/cvw234.

EHRA/HRS/APHRS/SOLAECE expert consensus on atrial cardiomyopathies: Definition, characterization, and clinical implication.

Heart Rhythm. 2017 Jan;14(1):e3-e40. doi: 10.1016/j.hrthm.2016.05.028. Epub 2016 Jun 10.

Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome.

J Am Coll Cardiol. 2015 Nov 3;66(18):1976-1986. doi: 10.1016/j.jacc.2015.08.862.

SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

J Am Coll Cardiol. 2011 May 24;57(21):2160-8. doi: 10.1016/j.jacc.2010.09.084.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.

Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study.

Circulation. 2005 Nov 1;112(18):2769-77. doi: 10.1161/CIRCULATIONAHA.105.532614.

Mouse model of SCN5A-linked hereditary Lenègre's disease: age-related conduction slowing and myocardial fibrosis.

Circulation. 2005 Apr 12;111(14):1738-46. doi: 10.1161/01.CIR.0000160853.19867.61. Epub 2005 Apr 4.

Transient and persistent atrial standstill with His bundle lesions. Electrophysiologic and pathologic correlations.

Circulation. 1971 Aug;44(2):220-36. doi: 10.1161/01.cir.44.2.220.

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Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an gene mutation.

作者信息

Kato Yoshiaki, Nozaki Yoshihiro, Takahashi-Igari Miho, Sugano Masato, Makita Naomasa, Horigome Hitoshi

机构信息

Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

Division of Pediatric Cardiology, National Cerebral and Cardiovascular Center, Suita, Japan.

出版信息

HeartRhythm Case Rep. 2022 Jul 2;8(9):636-638. doi: 10.1016/j.hrcr.2022.06.010. eCollection 2022 Sep.

DOI:10.1016/j.hrcr.2022.06.010

PMID:36147716

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9485770/

Abstract

摘要

相似文献

Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an gene mutation.

HeartRhythm Case Rep. 2022 Jul 2;8(9):636-638. doi: 10.1016/j.hrcr.2022.06.010. eCollection 2022 Sep.

Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.

Heart Rhythm. 2005 Oct;2(10):1128-34. doi: 10.1016/j.hrthm.2005.06.032.

Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease.

J Pediatr. 2014 Nov;165(5):1050-2. doi: 10.1016/j.jpeds.2014.07.036. Epub 2014 Aug 27.

Compound Heterozygous Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report.

Front Cardiovasc Med. 2020 Jul 24;7:117. doi: 10.3389/fcvm.2020.00117. eCollection 2020.

Long-term follow-up of permanent atrial standstill in a German family with mutation in the gene.

HeartRhythm Case Rep. 2018 Jun 28;4(8):356-358. doi: 10.1016/j.hrcr.2018.04.015. eCollection 2018 Aug.

A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill.

J Intern Med. 2004 Jan;255(1):137-42. doi: 10.1046/j.0954-6820.2003.01247.x.

Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.

Circulation. 2011 Aug 30;124(9):1001-11. doi: 10.1161/CIRCULATIONAHA.110.987248. Epub 2011 Aug 8.

Atrial standstill presenting as cerebral infarction in a 7-year-old girl.

SAGE Open Med Case Rep. 2019 Feb 4;7:2050313X19827735. doi: 10.1177/2050313X19827735. eCollection 2019.

Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects.

J Physiol. 2013 Sep 1;591(17):4099-116. doi: 10.1113/jphysiol.2013.256461. Epub 2013 Jul 1.

Persistent Atrial Standstill in Acute Myocarditis.

Indian Pediatr. 2016 Feb;53(2):162-4. doi: 10.1007/s13312-016-0814-3.

引用本文的文献

Atrial standstill in a young patient with ischemic stroke associated with inheritance of a novel HCN4 mutation.

J Arrhythm. 2024 Sep 20;40(6):1519-1522. doi: 10.1002/joa3.13150. eCollection 2024 Dec.

A young man with stroke and right ventricular dysfunction.

HeartRhythm Case Rep. 2024 Oct 15;10(10):695-698. doi: 10.1016/j.hrcr.2024.08.013. eCollection 2024 Oct.

MicroRNA-452-5p regulates fibrogenesis via targeting TGF-β/SMAD4 axis in SCN5A-knockdown human cardiac fibroblasts.

iScience. 2024 May 23;27(6):110084. doi: 10.1016/j.isci.2024.110084. eCollection 2024 Jun 21.

本文引用的文献

Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.

JACC Clin Electrophysiol. 2018 May;4(5):569-579. doi: 10.1016/j.jacep.2018.03.006. Epub 2018 May 2.

Relationship of Echocardiographic Scores Adjusted for Body Surface Area to Age, Sex, Race, and Ethnicity: The Pediatric Heart Network Normal Echocardiogram Database.

Circ Cardiovasc Imaging. 2017 Nov;10(11). doi: 10.1161/CIRCIMAGING.117.006979.

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.

Cardiovasc Res. 2017 Jan;113(1):102-111. doi: 10.1093/cvr/cvw234.

EHRA/HRS/APHRS/SOLAECE expert consensus on atrial cardiomyopathies: Definition, characterization, and clinical implication.

Heart Rhythm. 2017 Jan;14(1):e3-e40. doi: 10.1016/j.hrthm.2016.05.028. Epub 2016 Jun 10.

Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome.

J Am Coll Cardiol. 2015 Nov 3;66(18):1976-1986. doi: 10.1016/j.jacc.2015.08.862.

SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

J Am Coll Cardiol. 2011 May 24;57(21):2160-8. doi: 10.1016/j.jacc.2010.09.084.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.

Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study.

Circulation. 2005 Nov 1;112(18):2769-77. doi: 10.1161/CIRCULATIONAHA.105.532614.

Mouse model of SCN5A-linked hereditary Lenègre's disease: age-related conduction slowing and myocardial fibrosis.

Circulation. 2005 Apr 12;111(14):1738-46. doi: 10.1161/01.CIR.0000160853.19867.61. Epub 2005 Apr 4.

Transient and persistent atrial standstill with His bundle lesions. Electrophysiologic and pathologic correlations.

Circulation. 1971 Aug;44(2):220-36. doi: 10.1161/01.cir.44.2.220.