A novel lamin A/C truncation in chromosome 1-linked dilated cardiomyopathy with conduction disease

Background: Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including dilated cardiomyopathy with conduction system disease, autosomal dominant Emery Dreifuss Muscular Dystrophy, limb girdle muscular dystrophy, Charcot Marie Tooth, Mandibuloacral dysplasia, lipodystrophy and progeria. Methods: We used mutation detection to evaluate the lamin A/C gene in a 45 year-old woman with familial dilated cardiomyopathy and conduction system disease whose family has been well characterized for this phenotype [1]. Results: DNA from the proband was analyzed, and a novel 2 base-pair deletion c.908_909delCT in LMNA was identified. Conclusions: Mutations in the gene encoding lamin A/C can lead to significant cardiac conduction system disease that can be successfully treated with pacemakers and/or defibrillators. Genetic screening can help assess risk for arrhythmia and need for device implantation.