日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Lamin A/C gene (LMNA) mutations can cause a variety of clinical phenotypes, including skeletal muscle disease, metabolic disorders, and cardiac abnormalities. The cardiac phenotype associated with LMNA mutation is characterized by atrial fibrillation, conduction disturbances, ventricular arrhythmias, and dilated cardiomyopathy. Although the use of cardiac resynchronization therapy (CRT) is increasing for adult patients with LMNA-related cardiomyopathy, its use in pediatric patients has been limited. We present a case of congenital muscular dystrophy with LMNA mutation. The patient acquired ambulation at 16 months but gradually lost independent ambulation at 4 years of age. Cardiac involvement with reduced systolic function became apparent when she was 8 years old. Electrocardiography revealed complete atrioventricular block and nonsustained ventricular tachycardia. At the age of 13 years, severe bradycardia and atrial fibrillation were observed. The patient was repeatedly hospitalized because of congestive heart failure. As severe bradycardia caused heart failure, a biventricular pacemaker was implanted using a transvenous approach at 14 years of age. The CRT led to alleviation of the clinical symptoms. In summary, we present the outcome of CRT in a 14-year-old girl with LMNA-related cardiomyopathy. This case suggests that CRT initiation is a promising therapeutic strategy not just for adult patients with LMNA-related cardiomyopathy but also for pediatric patients.