Late gadolinium enhanced cardiovascular magnetic resonance of lamin A-C gene mutation related dilated cardiomyopathyReport as inadecuate

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Journal of Cardiovascular Magnetic Resonance

, 13:30

First Online: 20 June 2011Received: 17 May 2011Accepted: 20 June 2011


BackgroundThe 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.

MethodsSeventeen 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.

ResultsPatients 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.

ConclusionsCardiac 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.

Electronic supplementary materialThe online version of this article doi:10.1186-1532-429X-13-30 contains supplementary material, which is available to authorized users.

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Author: Miia Holmström - Sari Kivistö - Tiina Heliö - Raija Jurkko - Maija Kaartinen - Margareta Antila - Eeva Reissell - Johann


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