Abstract
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.
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. 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.
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.
Original language | English |
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Journal | Journal of Cardiovascular Magnetic Resonance |
Volume | 13 |
Issue number | 30 |
DOIs | |
Publication status | Published - 2011 |
MoE publication type | A1 Journal article-refereed |