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A desmoplakin variant associated with isolated arrhythmogenic left ventricular cardiomyopathy with rapid monomorphic ventricular tachycardia at first presentation.

作者信息

Guan Fu, Wolber Thomas, Saguner Ardan M, Medeiros Argelia, Müggler Oliver, Berger Florian, Gass Matthias, Molitor Nadine, Ruschitzka Frank, Brunckhorst Corinna, Duru Firat

机构信息

Cardiac Arrhythmia and Electrophysiology Division, Department of Cardiology, University Heart Center, Zurich, Switzerland.

Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.

出版信息

HeartRhythm Case Rep. 2023 Mar 28;9(6):406-409. doi: 10.1016/j.hrcr.2023.03.017. eCollection 2023 Jun.

DOI:10.1016/j.hrcr.2023.03.017
PMID:37361972
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10285122/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c428/10285122/0ddea6710921/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c428/10285122/88fe63b07d6a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c428/10285122/0ddea6710921/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c428/10285122/88fe63b07d6a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c428/10285122/0ddea6710921/gr2.jpg

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本文引用的文献

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A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis.一种新型的桥粒斑蛋白杂合变异导致伴有致心律失常性心肌病和掌跖角化病的心皮肤综合征。
J Clin Med. 2023 Jan 24;12(3):913. doi: 10.3390/jcm12030913.
2
Programmed Ventricular Stimulation as an Additional Primary Prevention Risk Stratification Tool in Arrhythmogenic Right Ventricular Cardiomyopathy: A Multinational Study.程序刺激心室作为致心律失常性右心室心肌病的一种附加一级预防风险分层工具：一项多国研究。
Circulation. 2022 Nov 8;146(19):1434-1443. doi: 10.1161/CIRCULATIONAHA.122.060866. Epub 2022 Oct 7.
3
Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin ().
桥粒斑蛋白基因变异患者的心血管特征（）。
Cardiogenetics. 2022 Mar;12(1):24-36. doi: 10.3390/cardiogenetics12010003. Epub 2022 Jan 6.
4
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.通过对致病性或可能致病性桥粒基因变异的基因组筛查发现心律失常性心肌病的临床特征和诊断效果。
Circ Genom Precis Med. 2021 Apr;14(2):e003302. doi: 10.1161/CIRCGEN.120.003302. Epub 2021 Mar 8.
5
Characteristics of Patients With Arrhythmogenic Left Ventricular Cardiomyopathy: Combining Genetic and Histopathologic Findings.心律失常性左室心肌病患者的特征：结合遗传学和组织病理学发现。
Circ Arrhythm Electrophysiol. 2020 Dec;13(12):e009005. doi: 10.1161/CIRCEP.120.009005. Epub 2020 Dec 15.
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Nucleic Acids Res. 2020 Jan 8;48(D1):D835-D844. doi: 10.1093/nar/gkz972.
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Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.致心律失常性右室心肌病的桥粒斑蛋白错义和非错义突变：基因型-表型相关性。
Int J Cardiol. 2017 Dec 15;249:268-273. doi: 10.1016/j.ijcard.2017.05.018. Epub 2017 May 10.
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