LMNA公司
医学
心源性猝死
基因检测
初级预防
植入式心律转复除颤器
干预(咨询)
重症监护医学
遗传咨询
心脏病学
内科学
疾病
精神科
遗传学
拉明
生物
核心
作者
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
摘要
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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