• Internal medicine · Sep 2024

    Case Reports

    Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series.

    • Naoko Ogawa, Hidekazu Kondo, Yumi Ishii, Kazuki Mitarai, Kumiko Akiyoshi, Hiroko Niwa, Koichi Kato, Minoru Horie, Seiko Ohno, and Naohiko Takahashi.
    • Department of Cardiology and Clinical Examination, Faculty of Medicine, Oita University, Japan.
    • Intern. Med. 2024 Sep 15; 63 (18): 253325362533-2536.

    AbstractWe report the case of a family afflicted with cardiac laminopathy who showed atrial fibrillation (AF) and complete atrioventricular block across three generations. Implantable cardioverter defibrillators (ICDs) implantation, or cardiac resynchronization therapy (CRT) were delivered to the three patients (proband; 61 years old, proband's mother: 84 years old, and proband's daughter; 38 years old) to prevent sudden cardiac death or suppress heart failure progression. A novel frameshift mutation (LMNA Exon 9: c.1550dupA;p. N518Efs*34) was found in all three cases through genetic testing, and this mutation may potentially result in the relatively late appearance of a phenotype of left ventricular systolic dysfunction.

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