Familial dilated cardiomyopathy caused by a novel variant in theLamin A/Cgene: a case report

Background Familial dilated cardiomyopathy (FDCM) is most commonly inherited as an autosomal dominant trait. TheLamin A/C(LMNA) gene variants have been identified to be associated with DCM, conductive system disorders, type 2 Emery-Dreifuss muscular dystrophy and several other disorders. Here, we reported a novel variant in theLMNAgene that might be related to FDCM. Case presentation A 30-year-old young man was hospitalized for chest tightness, extreme fatigue, palpitation and impaired activity tolerance. He had clinical characteristics including cardiac dilatation, atrial tachyarrhythmia, severe conductive system disorders, and dyskinesia of both upper limbs and the neck. Genetic sequence analysis indicated that the patient carried a novel c.1325 T>C heterozygousLMNAgene variant. Catheter ablation and cardiac resynchronization therapy with pacing function (CRT-P) were performed to treat the arrhythmia. Conclusion The variant c.1325 T>C is a novel variant in theLMNAgene that has not been previously reported. Young patients with DCM, conductive system disorders and skeletal myopathy should be alert to the possibility ofLMNAgene variant. Cardiac resynchronization therapy (CRT) may be a reasonable choice for patient carrying aLMNAgene variant with third-degree atrioventricular block even if the left ventricular ejection fraction is preserved in order to prevent the deterioration of cardiac function caused by right ventricular pacing dependency.