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Lamin A/C truncation in dilated cardiomyopathy with conduction disease
Heather M MacLeod1, Mary R Culley, Jill M Huber
1Section of Cardiology, Department of Medicine, University of Chicago, Chicago, IL, USA. hmacleod@medicine.bsd.uchicago.edu
Background:
Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, autosomal dominant and recessive Emery Dreifuss Muscular Dystrophy, limb girdle muscular dystrophy type 1B, autosomal recessive type 2 Charcot Marie Tooth, mandibuloacral dysplasia, familial partial lipodystrophy and Hutchinson-Gilford 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.