Eiichi Watanabe

Lamins belong to the intermediate filament gene super-family, which is the main architectural component of the inner nuclear membrane, and influences gene duplication and expression. Lamin A/C gene (LMNA) mutations cause Emery-Dreifuss muscular dystrophy, which is characterized by a triad including joint contractures, muscle weakness, and abnormalities of the conduction-system, and cardiomyopathy. LMNA has also been detected in patients with progressive conduction-system disease and cardiac dysfunction but without muscular dystrophy, which is called cardiolaminopathy. The majority of cardiolaminopathy patients die due to heart failure or ventricular tachyarrhythmias. We report 3 cases (the average age, 49.6 year-old at the time of the implantation of the cardiac pacemaker, male/female=1/2) with a novel nonsense mutation (Q258X) that received cardiac pacemakers for bradycardia.