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

We 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.PMID:38432972 | DOI:10.2169/internalmedicine.1701-23

Source: Internal Medicine - March 3, 2024 Category: Internal Medicine Authors: Naoko Ogawa Hidekazu Kondo Yumi Ishii Kazuki Mitarai Kumiko Akiyoshi Hiroko Niwa Koichi Kato Minoru Horie Seiko Ohno Naohiko Takahashi Source Type: research