Genotype-Guided Cardiac Device Intervention in <i>LMNA</i> -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.
Authors
- Norihiko Takeda (ORCID: https://orcid.org/0000-0003-1023-6116)
- Eisuke Amiya (ORCID: https://orcid.org/0000-0003-2810-8040)
- Norifumi Takeda (ORCID: https://orcid.org/0000-0003-4818-3347)
- Junichi Ishida (ORCID: https://orcid.org/0000-0001-9703-9419)
- Masamichi Ito (ORCID: https://orcid.org/0000-0001-6945-3137)
- Tsukasa Oshima (ORCID: https://orcid.org/0000-0001-9086-5304)
- Yu Shimizu (ORCID: https://orcid.org/0000-0002-5439-7678)
- Seitaro Nomura (ORCID: https://orcid.org/0000-0002-2957-2016)
- Katsuhito Fujiu
- Masaru Hatano (ORCID: https://orcid.org/0000-0003-2135-3625)
- Hiroyuki Morita (ORCID: https://orcid.org/0000-0003-0879-5576)
- Issei Komuro (ORCID: https://orcid.org/0000-0002-0714-7182)
- Zhehao Dai (ORCID: https://orcid.org/0000-0002-0363-7563)
- Takashi Hiruma (ORCID: https://orcid.org/0000-0002-4873-9029)
- Manami Katoh (ORCID: https://orcid.org/0000-0001-5634-9170)
- Kenichiro Yamagata (ORCID: https://orcid.org/0000-0002-9571-7017)
- Kanna Fujita (ORCID: https://orcid.org/0000-0003-0638-3121)
- Toshiyuki Ko (ORCID: https://orcid.org/0000-0002-9043-064X)
- Ryo Abe (ORCID: https://orcid.org/0000-0002-3922-6029)
- Shunsuke Inoue
Institutions
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
Publication Details
- Journal
- European Journal of Heart Failure
- Published
- 2025-05-24
- DOI
- https://doi.org/10.1002/ejhf.3695
- Primary Topic
- Cardiac pacing and defibrillation studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Cell Science Research Foundation
- Novartis Foundation
- Japan Foundation for Applied Enzymology
- Uehara Memorial Foundation
- Daiichi-Sankyo
- University of Tokyo
- Astellas Pharma
- Japanese Circulation Society
- Astellas Foundation for Research on Metabolic Disorders
- SENSHIN Medical Research Foundation
- Kanae Foundation for the Promotion of Medical Science
- NOVARTIS Foundation (Japan) for the Promotion of Science
- Japan Heart Foundation