Clinical Manifestations and Long-Term Mortality in <i>Lamin A/C</i> Mutation Carriers From a Japanese Multicenter Registry

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著者

    • Nakajima Kenzaburo
    • Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center|Department of Advanced Cardiovascular Medicine, Graduate School of Medical Sciences Kumamoto University
    • Onoue Kenji
    • Department of Cardiovascular Medicine, Nara Medical University
    • Yagihara Nobue
    • Department of Cardiovascular Biology and Medicine, Niigata University Graduate School of Medical and Dental Sciences
    • Ishikawa Taisuke
    • Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences
    • Watanabe Ichiro
    • Division of Cardiology, Department of Medicine, Nihon University School of Medicine
    • Kawakami Hiroshi
    • Department of Cardiology, Pulmonology, Hypertension and Nephrology, Ehime University Graduate School of Medicine
    • Oginosawa Yasushi
    • The Second Department of Internal Medicine, University of Occupational and Environmental Health
    • Nogami Akihiko
    • Cardiovascular Division, Faculty of Medicine, University of Tsukuba
    • Aonuma Kazutaka
    • Cardiovascular Division, Faculty of Medicine, University of Tsukuba
    • Aiba Takeshi
    • Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center|Department of Advanced Arrhythmia and Translational Medical Science, National Cerebral and Cardiovascular Center
    • Kimura Takeshi
    • Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
    • Yasuda Satoshi
    • Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center|Department of Advanced Cardiovascular Medicine, Graduate School of Medical Sciences Kumamoto University
    • Makita Naomasa
    • Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences
    • Horie Minoru
    • Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
    • Kusano Kengo
    • Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center|Department of Advanced Cardiovascular Medicine, Graduate School of Medical Sciences Kumamoto University
    • Makiyama Takeru
    • Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
    • Nishiuchi Suguru
    • Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
    • Ohno Seiko
    • Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
    • Kato Koichi
    • Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
    • Yamamoto Yuta
    • Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
    • Doi Takahiro
    • Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
    • Shizuta Satoshi
    • Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine

抄録

<p><b><i>Background:</i></b>Mutation in the lamin A/C gene (<i>LMNA</i>) is associated with several cardiac phenotypes, such as cardiac conduction disorders (CCD), atrial arrhythmia (AA), malignant ventricular arrhythmia (MVA) and left ventricular dysfunction (LVD), leading to sudden cardiac death (SCD) and/or end-stage heart failure. We investigated how these phenotypes are associated with each other and which of them are most important for total mortality.</p><p><b><i>Methods and Results:</i></b>A multicenter registry included 110 <i>LMNA</i> mutation carriers (age, 43±15 years, male: 62%) from 60 families. After genetic diagnosis of <i>LMNA</i> mutation (missense: 27%, non-missense: 73%), patients or subjects were followed to evaluate the manifestations of their phenotypes and the risk of total mortality; 90 patients could be followed (median: 5 [0–35] years). Prevalence of the 4 clinical phenotypes was significantly increased during follow-up. Among these phenotypes, AA was significantly associated with MVA. CCD was significantly associated with LVD. LVD, meanwhile, was significantly associated with CCD and MVA. Male sex was significantly associated with MVA. Furthermore, during follow-up, 17 patients died: 12 end-stage heart failure, 4 SCD and 1 stroke. LVD was the only independent predictor for all-cause death (OR: 41.7, 95% CI: 4.1–422.3; P=0.0016).</p><p><b><i>Conclusions:</i></b>Several cardiac phenotypes were age-dependently increased in <i>LMNA</i> mutation carriers, suggesting that ICD or CRT-D could suppress SCD after middle age; however, LVD leading to end-stage heart failure was the only independent predictor for total mortality.</p>

収録刊行物

  • 日本循環器學誌

    日本循環器學誌, 2018

    一般社団法人 日本循環器学会

各種コード

  • NII論文ID(NAID)
    130007430787
  • 本文言語コード
    ENG
  • ISSN
    1346-9843
  • データ提供元
    J-STAGE 
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