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Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy

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 the...

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Autores principales: Holmström, Miia, Kivistö, Sari, Heliö, Tiina, Jurkko, Raija, Kaartinen, Maija, Antila, Margareta, Reissell, Eeva, Kuusisto, Johanna, Kärkkäinen, Satu, Peuhkurinen, Keijo, Koikkalainen, Juha, Lötjönen, Jyrki, Lauerma, Kirsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135551/
https://www.ncbi.nlm.nih.gov/pubmed/21689390
http://dx.doi.org/10.1186/1532-429X-13-30
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author Holmström, Miia
Kivistö, Sari
Heliö, Tiina
Jurkko, Raija
Kaartinen, Maija
Antila, Margareta
Reissell, Eeva
Kuusisto, Johanna
Kärkkäinen, Satu
Peuhkurinen, Keijo
Koikkalainen, Juha
Lötjönen, Jyrki
Lauerma, Kirsi
author_facet Holmström, Miia
Kivistö, Sari
Heliö, Tiina
Jurkko, Raija
Kaartinen, Maija
Antila, Margareta
Reissell, Eeva
Kuusisto, Johanna
Kärkkäinen, Satu
Peuhkurinen, Keijo
Koikkalainen, Juha
Lötjönen, Jyrki
Lauerma, Kirsi
author_sort Holmström, Miia
collection PubMed
description 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.
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spelling pubmed-31355512011-07-14 Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy Holmström, Miia Kivistö, Sari Heliö, Tiina Jurkko, Raija Kaartinen, Maija Antila, Margareta Reissell, Eeva Kuusisto, Johanna Kärkkäinen, Satu Peuhkurinen, Keijo Koikkalainen, Juha Lötjönen, Jyrki Lauerma, Kirsi J Cardiovasc Magn Reson Research 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. BioMed Central 2011-06-20 /pmc/articles/PMC3135551/ /pubmed/21689390 http://dx.doi.org/10.1186/1532-429X-13-30 Text en Copyright ©2011 Holmström et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Holmström, Miia
Kivistö, Sari
Heliö, Tiina
Jurkko, Raija
Kaartinen, Maija
Antila, Margareta
Reissell, Eeva
Kuusisto, Johanna
Kärkkäinen, Satu
Peuhkurinen, Keijo
Koikkalainen, Juha
Lötjönen, Jyrki
Lauerma, Kirsi
Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy
title Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy
title_full Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy
title_fullStr Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy
title_full_unstemmed Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy
title_short Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy
title_sort late gadolinium enhanced cardiovascular magnetic resonance of lamin a/c gene mutation related dilated cardiomyopathy
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135551/
https://www.ncbi.nlm.nih.gov/pubmed/21689390
http://dx.doi.org/10.1186/1532-429X-13-30
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