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Focusing in on the Danon Disease Heart.

作者信息

Tharp Charles A, Taylor Matthew R G

机构信息

Division of Cardiology, University of Colorado, Denver Health, Denver, Colorado, USA.

Adult Medical Genetics Program and Division of Cardiology, Anschutz Medical Center, Aurora, Colorado, USA.

出版信息

JACC Case Rep. 2024 Oct 2;29(19):102602. doi: 10.1016/j.jaccas.2024.102602.

DOI:10.1016/j.jaccas.2024.102602
PMID:39484335
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11522811/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/108a/11522811/0d3561fda876/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/108a/11522811/0d3561fda876/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/108a/11522811/0d3561fda876/ga1.jpg

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Focusing in on the Danon Disease Heart.聚焦于达农病心脏。
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本文引用的文献

1
Magnetic Resonance Imaging Characterization and Clinical Outcomes of Dilated and Arrhythmogenic Left Ventricular Cardiomyopathies.磁共振成像特征及扩张型和心律失常性左心室心肌病的临床转归。
J Am Coll Cardiol. 2024 May 14;83(19):1841-1851. doi: 10.1016/j.jacc.2024.02.041.
2
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.《丹农病患者的鉴别诊断和管理国际共识：美国心脏病学会最新综述》。
J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014.
3
A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.
仅表现为严重心脏症状患者的Danon病诊断病例研究及文献综述
Pharmgenomics Pers Med. 2023 Aug 17;16:767-775. doi: 10.2147/PGPM.S392800. eCollection 2023.
4
insertion mutation causes cardiac-only Danon disease: A case report.插入突变导致仅累及心脏的Danon病：一例报告
Front Cardiovasc Med. 2022 Sep 16;9:899283. doi: 10.3389/fcvm.2022.899283. eCollection 2022.
5
Case Report: A Novel Splice-Altering Mutation Causes Cardiac-Only Danon Disease.病例报告：一种新型剪接改变突变导致仅累及心脏的丹农病。
Front Cardiovasc Med. 2021 Nov 25;8:763240. doi: 10.3389/fcvm.2021.763240. eCollection 2021.
6
Danon disease: Gender differences in presentation and outcomes.Danon 病：临床表现和结局的性别差异。
Int J Cardiol. 2019 Jul 1;286:92-98. doi: 10.1016/j.ijcard.2019.01.020. Epub 2019 Feb 16.
7
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).遗传性心肌病的基因评估：美国医学遗传学与基因组学学会（ACMG）的临床实践资源。
Genet Med. 2018 Sep;20(9):899-909. doi: 10.1038/s41436-018-0039-z. Epub 2018 Jun 14.
8
Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.心肌病的遗传学评估——美国心力衰竭学会实践指南。
J Card Fail. 2018 May;24(5):281-302. doi: 10.1016/j.cardfail.2018.03.004. Epub 2018 Mar 19.
9
Danon disease: clinical features, evaluation, and management.达农病：临床特征、评估与管理
Circ Heart Fail. 2014 Sep;7(5):843-9. doi: 10.1161/CIRCHEARTFAILURE.114.001105.