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病例报告：基因中的突变作为纤维化心房肌病的一个病因。

Case report: Mutation in gene as a cause of fibrotic atrial myopathy.

作者信息

Silva Cunha Pedro, Antunes Diana Oliveira, Laranjo Sérgio, Coutinho Ana, Abecasis João, Oliveira Mário Martins

机构信息

Arrhythmology, Pacing and Electrophysiology Unit, Cardiology Service, Santa Marta Hospital, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal.

Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

出版信息

Front Cardiovasc Med. 2023 Jun 8;10:1149717. doi: 10.3389/fcvm.2023.1149717. eCollection 2023.

DOI:10.3389/fcvm.2023.1149717
PMID:37363091
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10285104/
Abstract

Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the gene in the index case and the presence of the variant in heterozygosity in both parents.

摘要

早发性心房颤动（AF）可能是遗传性心房肌病的表现。然而，导致心房纤维化的特定基因突变识别却很少见。我们报告一例年轻患者，在常规检查中被诊断为无症状性AF。心脏磁共振成像显示广泛的心房纤维化，电生理研究显示广泛的低电压区域。基因检测在索引病例中发现该基因的纯合致病变异，且其父母均为该变异的杂合携带者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/a37faebbdd78/fcvm-10-1149717-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/7638a6cedf57/fcvm-10-1149717-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/d6409ae40e6f/fcvm-10-1149717-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/a240abe599cc/fcvm-10-1149717-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/ae5ed0cee117/fcvm-10-1149717-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/8865180dd85d/fcvm-10-1149717-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/a37faebbdd78/fcvm-10-1149717-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/7638a6cedf57/fcvm-10-1149717-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/d6409ae40e6f/fcvm-10-1149717-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/a240abe599cc/fcvm-10-1149717-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/ae5ed0cee117/fcvm-10-1149717-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/8865180dd85d/fcvm-10-1149717-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74b1/10285104/a37faebbdd78/fcvm-10-1149717-g006.jpg

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The Atrium in Atrial Fibrillation - A Clinical Review on How to Manage Atrial Fibrotic Substrates.心房颤动中的心房——关于如何处理心房纤维化基质的临床综述
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Atrial Natriuretic Peptide: A Novel Therapeutic Factor for Cardiovascular Diseases.
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Early Rhythm-Control Therapy in Patients with Atrial Fibrillation.心房颤动患者的早期节律控制治疗。
N Engl J Med. 2020 Oct 1;383(14):1305-1316. doi: 10.1056/NEJMoa2019422. Epub 2020 Aug 29.
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