Lamin A/C truncation in dilated cardiomyopathy with conduction disease

Heather M MacLeod^* , Mary R Culley^* , Jill M Huber^* and Elizabeth M McNally

Section of Cardiology, Department of Medicine, University of Chicago, Chicago, IL, USA

author email corresponding author email* Contributed equally

BMC Medical Genetics 2003, 4:4doi:10.1186/1471-2350-4-4


Published:	10 July 2003

Abstract

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.