基因型引导心脏装置干预lmna相关心脏传导障碍:需要及时进行基因检测

IF 16.9 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS
Shunsuke Inoue, Zhehao Dai, Tsukasa Oshima, Seitaro Nomura, Takashi Hiruma, Ryo Abe, Kanna Fujita, Manami Katoh, Toshiyuki Ko, Yu Shimizu, Masamichi Ito, Kenichiro Yamagata, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Hiroyuki Morita, Katsuhito Fujiu, Norihiko Takeda, Issei Komuro
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引用次数: 0

摘要

心源性猝死是一种灾难性事件,因此预防它很重要。然而,患者选择一级预防仍然存在争议。我们报告两例心脏传导障碍最初治疗永久性起搏器植入。基因检测后来发现了LMNA的新致病变异,导致升级到植入式心律转复除颤器,用于初级预防心源性猝死。这些病例强调了早期基因分析对指导最佳器械治疗的重要性。获得基因结果的延迟需要再次手术,强调需要事先进行基因组测序和医生意识,以改善临床决策和患者预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genotype-guided cardiac device intervention in LMNA-related cardiac conduction disorder: The need for timely genetic testing
Sudden cardiac death is a catastrophic event, making its prevention important. However, patient selection for primary prevention remains controversial. We report two cases of cardiac conduction disorder initially treated with permanent pacemaker implantation. Genetic testing later revealed novel pathogenic variants in LMNA, leading to an upgrade to implantable cardioverter-defibrillator for primary prevention of sudden cardiac death. These cases highlight the importance of early genetic analysis to guide optimal device therapy. The delay in obtaining genetic results necessitated reoperation, underscoring the need for preceding genomic sequencing and physician awareness to improve clinical decision-making and patient outcomes.
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来源期刊
European Journal of Heart Failure
European Journal of Heart Failure 医学-心血管系统
CiteScore
27.30
自引率
11.50%
发文量
365
审稿时长
1 months
期刊介绍: European Journal of Heart Failure is an international journal dedicated to advancing knowledge in the field of heart failure management. The journal publishes reviews and editorials aimed at improving understanding, prevention, investigation, and treatment of heart failure. It covers various disciplines such as molecular and cellular biology, pathology, physiology, electrophysiology, pharmacology, clinical sciences, social sciences, and population sciences. The journal welcomes submissions of manuscripts on basic, clinical, and population sciences, as well as original contributions on nursing, care of the elderly, primary care, health economics, and other related specialist fields. It is published monthly and has a readership that includes cardiologists, emergency room physicians, intensivists, internists, general physicians, cardiac nurses, diabetologists, epidemiologists, basic scientists focusing on cardiovascular research, and those working in rehabilitation. The journal is abstracted and indexed in various databases such as Academic Search, Embase, MEDLINE/PubMed, and Science Citation Index.
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