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

Miia Holmström, Sari Kivistö, Tiina Heliö, Raija Jurkko, Maija Kaartinen, Margareta Antila, Eeva Reissell, Johanna Kuusisto, Satu Kärkkäinen, Keijo Peuhkurinen, Juha Koikkalainen, Jyrki Lötjönen, Kirsi Lauerma

Research output: Contribution to journalArticleScientificpeer-review

43 Citations (Scopus)

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 languageEnglish
JournalJournal of Cardiovascular Magnetic Resonance
Volume13
Issue number30
DOIs
Publication statusPublished - 2011
MoE publication typeA1 Journal article-refereed

Fingerprint

Lamin Type A
Gadolinium
Dilated Cardiomyopathy
Magnetic Resonance Spectroscopy
Heart Ventricles
Mutation
Fibrosis
Genes
Image Enhancement
Cardiomyopathies
Dilatation
Heart Diseases
Myocardium

Cite this

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. In: Journal of Cardiovascular Magnetic Resonance. 2011 ; Vol. 13, No. 30.
@article{3ca7b4aefbf543d8940b42195adafb70,
title = "Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy",
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.",
author = "Miia Holmstr{\"o}m and Sari Kivist{\"o} and Tiina Heli{\"o} and Raija Jurkko and Maija Kaartinen and Margareta Antila and Eeva Reissell and Johanna Kuusisto and Satu K{\"a}rkk{\"a}inen and Keijo Peuhkurinen and Juha Koikkalainen and Jyrki L{\"o}tj{\"o}nen and Kirsi Lauerma",
note = "Project code: 38769",
year = "2011",
doi = "10.1186/1532-429X-13-30",
language = "English",
volume = "13",
journal = "Journal of Cardiovascular Magnetic Resonance",
issn = "1097-6647",
number = "30",

}

Holmström, M, Kivistö, S, Heliö, T, Jurkko, R, Kaartinen, M, Antila, M, Reissell, E, Kuusisto, J, Kärkkäinen, S, Peuhkurinen, K, Koikkalainen, J, Lötjönen, J & Lauerma, K 2011, 'Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy', Journal of Cardiovascular Magnetic Resonance, vol. 13, no. 30. https://doi.org/10.1186/1532-429X-13-30

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.

In: Journal of Cardiovascular Magnetic Resonance, Vol. 13, No. 30, 2011.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy

AU - Holmström, Miia

AU - Kivistö, Sari

AU - Heliö, Tiina

AU - Jurkko, Raija

AU - Kaartinen, Maija

AU - Antila, Margareta

AU - Reissell, Eeva

AU - Kuusisto, Johanna

AU - Kärkkäinen, Satu

AU - Peuhkurinen, Keijo

AU - Koikkalainen, Juha

AU - Lötjönen, Jyrki

AU - Lauerma, Kirsi

N1 - Project code: 38769

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

U2 - 10.1186/1532-429X-13-30

DO - 10.1186/1532-429X-13-30

M3 - Article

VL - 13

JO - Journal of Cardiovascular Magnetic Resonance

JF - Journal of Cardiovascular Magnetic Resonance

SN - 1097-6647

IS - 30

ER -