BACKGROUND: The purpose of this study was to identify early features of lamin 
A/C gene mutation related dilated cardiomyopathy (DCM) with cardiovascular 
magnetic resonance (CMR). We characterise myocardial and functional findings in 
carriers of lamin A/C mutation to facilitate the recognition of these patients 
using this method. We also investigated the connection between myocardial 
fibrosis and conduction abnormalities.
METHODS: Seventeen lamin A/C mutation carriers underwent CMR. Late gadolinium 
enhancement (LGE) and cine images were performed to evaluate myocardial 
fibrosis, regional wall motion, longitudinal myocardial function, global 
function and volumetry of both ventricles. The location, pattern and extent of 
enhancement in the left ventricle (LV) myocardium were visually estimated.
RESULTS: Patients had LV myocardial fibrosis in 88% of cases. Segmental wall 
motion abnormalities correlated strongly with the degree of enhancement. 
Myocardial enhancement was associated with conduction abnormalities. Sixty-nine 
percent of our asymptomatic or mildly symptomatic patients showed mild 
ventricular dilatation, systolic failure or both in global ventricular analysis. 
Decreased longitudinal systolic LV function was observed in 53% of patients.
CONCLUSIONS: Cardiac conduction abnormalities, mildly dilated LV and depressed 
systolic dysfunction are common in DCM caused by a lamin A/C gene mutation. 
However, other cardiac diseases may produce similar symptoms. CMR is an accurate 
tool to determine the typical cardiac involvement in lamin A/C cardiomyopathy 
and may help to initiate early treatment in this malignant familiar form of DCM.