与SCN5A基因新的复合突变相关的常染色体隐性遗传性小儿病态窦房结综合征 - Suppr

Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A.

作者信息

Kodama Takahide, Serio Alessandra, Disertori Marcello, Bronzetti Gabriele, Diegoli Marta, Narula Nupoor, Grasso Maurizia, Mazzola Silvia, Arbustini Eloisa

出版信息

Int J Cardiol. 2013 Sep 10;167(6):3078-80. doi: 10.1016/j.ijcard.2012.11.062. Epub 2012 Nov 28.

DOI:10.1016/j.ijcard.2012.11.062

PMID:23200271

Abstract

摘要

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Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A.与SCN5A基因新的复合突变相关的常染色体隐性遗传性小儿病态窦房结综合征

Int J Cardiol. 2013 Sep 10;167(6):3078-80. doi: 10.1016/j.ijcard.2012.11.062. Epub 2012 Nov 28.

Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.家族性病态窦房结综合征伴早发和主要男性特征的钠离子通道病。

Circ Arrhythm Electrophysiol. 2014 Jun;7(3):511-7. doi: 10.1161/CIRCEP.113.001340. Epub 2014 Apr 24.

[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].[因SCN5A基因新突变导致的心脏窦房结功能障碍]

Arch Pediatr. 2012 Aug;19(8):837-41. doi: 10.1016/j.arcped.2012.04.017. Epub 2012 Jul 12.

A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome.一种在家族性病态窦房结综合征中表现出多种临床表型的新型SCN5A突变。

Intern Med. 2013;52(16):1805-8. doi: 10.2169/internalmedicine.52.0085. Epub 2012 Mar 1.

Autosomal recessive atrial disease presenting with sick sinus syndrome (SSS), right atrial fibrosis and biatrial dilatation: Clinical impact of genetic diagnosis.常染色体隐性遗传性心房疾病伴病态窦房结综合征（SSS）、右心房纤维化和双房扩张：基因诊断的临床意义

Int J Cardiol. 2016 Apr 1;208:67-9. doi: 10.1016/j.ijcard.2016.01.160. Epub 2016 Jan 9.

SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.SCN5A-L256del 和 L1621F 表现出与常染色体隐性先天性心脏疾病相关的功能丧失特性，这些疾病表现为病态窦房结综合征、扩张型心肌病和心源性猝死。

Gene. 2024 Mar 10;898:148093. doi: 10.1016/j.gene.2023.148093. Epub 2023 Dec 19.

A novel homozygous SCN5A variant detected in sick sinus syndrome.在病态窦房结综合征中发现的一种新型纯合 SCN5A 变异体。

Pacing Clin Electrophysiol. 2021 Feb;44(2):380-384. doi: 10.1111/pace.14077. Epub 2020 Oct 1.

Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.

Int J Cardiol. 2014 Jan 1;170(3):e63-5. doi: 10.1016/j.ijcard.2013.11.013. Epub 2013 Nov 12.

Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.与窦房结功能障碍、房性心律失常及起搏器夺获不良相关的功能丧失性SCN5A突变

Circ Arrhythm Electrophysiol. 2015 Oct;8(5):1105-12. doi: 10.1161/CIRCEP.115.003098. Epub 2015 Jun 25.

Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.伴有HCN4基因突变的病态窦房结综合征发病早，且常与心房颤动和左心室心肌致密化不全相关。

Heart Rhythm. 2017 May;14(5):717-724. doi: 10.1016/j.hrthm.2017.01.020. Epub 2017 Jan 17.

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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.心脏钠通道在心律失常中的基因组和非基因组调控机制。

Int J Mol Sci. 2022 Jan 26;23(3):1381. doi: 10.3390/ijms23031381.

Genetic Complexity of Sinoatrial Node Dysfunction.窦房结功能障碍的遗传复杂性

Front Genet. 2021 Apr 1;12:654925. doi: 10.3389/fgene.2021.654925. eCollection 2021.

Genetics and clinics: current applications, limitations, and future developments.遗传学与临床：当前应用、局限性及未来发展

Eur Heart J Suppl. 2019 Mar;21(Suppl B):B7-B14. doi: 10.1093/eurheartj/suz048. Epub 2019 Mar 29.

Dysfunctional Nav1.5 channels due to SCN5A mutations.功能失调的 Nav1.5 通道由于 SCN5A 突变。

Exp Biol Med (Maywood). 2018 Jun;243(10):852-863. doi: 10.1177/1535370218777972. Epub 2018 May 27.

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Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A.

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