Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance
Abstract Background Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is an autosomal dominant and the third most common inherited muscle disease. Cardiac involvement is currently described in several muscular dystrophies (MD), but there are conflicting reports in FSHD1. Mostly, FSHD1 is recogni...
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2019-04-01
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Series: | Journal of Cardiovascular Magnetic Resonance |
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Online Access: | http://link.springer.com/article/10.1186/s12968-019-0537-4 |
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Article |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Edyta Blaszczyk Ulrike Grieben Florian von Knobelsdorff-Brenkenhoff Peter Kellman Luisa Schmacht Stephanie Funk Simone Spuler Jeanette Schulz-Menger |
spellingShingle |
Edyta Blaszczyk Ulrike Grieben Florian von Knobelsdorff-Brenkenhoff Peter Kellman Luisa Schmacht Stephanie Funk Simone Spuler Jeanette Schulz-Menger Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance Journal of Cardiovascular Magnetic Resonance Magnetic resonance imaging FSHD Fat Fibrosis Sex & gender |
author_facet |
Edyta Blaszczyk Ulrike Grieben Florian von Knobelsdorff-Brenkenhoff Peter Kellman Luisa Schmacht Stephanie Funk Simone Spuler Jeanette Schulz-Menger |
author_sort |
Edyta Blaszczyk |
title |
Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance |
title_short |
Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance |
title_full |
Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance |
title_fullStr |
Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance |
title_full_unstemmed |
Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance |
title_sort |
subclinical myocardial injury in patients with facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonance |
publisher |
BMC |
series |
Journal of Cardiovascular Magnetic Resonance |
issn |
1532-429X |
publishDate |
2019-04-01 |
description |
Abstract Background Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is an autosomal dominant and the third most common inherited muscle disease. Cardiac involvement is currently described in several muscular dystrophies (MD), but there are conflicting reports in FSHD1. Mostly, FSHD1 is recognized as MD with infrequent cardiac involvement, but sudden cardiac deaths are reported in single cases. The aim of this study is to investigate whether subclinical cardiac involvement in FSHD1 patients is detectable in preserved left ventricular systolic function applying cardiovascular magnetic resonance (CMR). Methods We prospectively included patients with genetically confirmed FSHD1 (n = 52, 48 ± 15 years) and compared them with 29 healthy age-matched controls using a 1.5 T CMR scanner. Myocardial tissue differentiation was performed qualitatively using focal fibrosis imaging (late gadolinium enhancement (LGE)), fat imaging (multi-echo sequence for fat/water-separation) and parametric T2- and T1-mapping for quantifying inflammation and diffuse fibrosis. Extracellular volume fraction was calculated. A 12-lead electrocardiogram and 24-h Holter were performed for the assessment of MD-specific Groh-criteria and arrhythmia. Results Focal fibrosis by LGE was present in 13 patients (25%,10 men), fat infiltration in 7 patients (13%,5 men). T2 values did not differ between FSHD1 and healthy controls. Native T1 mapping revealed significantly higher values in patients (global native myocardial T1 values basal: FSHD1: 1012 ± 26 ms vs. controls: 985 ± 28 ms, p < 0.01, medial FSHD1: 994 ± 37 ms vs. controls: 982 ± 28 ms, p = 0.028). This was also evident in regions adjacent to focal fibrosis, indicating diffuse fibrosis. Groh-criteria were positive in 1 patient. In Holter, arrhythmic events were recorded in 10/43 subjects (23%). Conclusions Patients with FSHD1 and preserved left ventricular ejection fraction present focal and diffuse myocardial injury. Longitudinal multi-center trials are needed to define the impact of myocardial changes as well as a relation between myocardial injury and arrhythmias on long-term prognosis and therapeutic decision-making. Trial registration ISRCTN registry with study ID ISRCTN13744381. |
topic |
Magnetic resonance imaging FSHD Fat Fibrosis Sex & gender |
url |
http://link.springer.com/article/10.1186/s12968-019-0537-4 |
work_keys_str_mv |
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doaj-3af833de8c4f401eaa35f3a6d3886e872020-11-25T02:09:22ZengBMCJournal of Cardiovascular Magnetic Resonance1532-429X2019-04-0121111110.1186/s12968-019-0537-4Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction – assessment by cardiovascular magnetic resonanceEdyta Blaszczyk0Ulrike Grieben1Florian von Knobelsdorff-Brenkenhoff2Peter Kellman3Luisa Schmacht4Stephanie Funk5Simone Spuler6Jeanette Schulz-Menger7Working Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charité – Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and NephrologyMuscle Research Unit, Experimental and Clinical Research Center a joint cooperation between the Charité Medical Faculty and the Max-Delbrueck Center for Molecular MedicineWorking Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charité – Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and NephrologyNational Heart, Lung and Blood Institute, National Institute of HealthWorking Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charité – Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and NephrologyWorking Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charité – Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and NephrologyMuscle Research Unit, Experimental and Clinical Research Center a joint cooperation between the Charité Medical Faculty and the Max-Delbrueck Center for Molecular MedicineWorking Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charité – Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and NephrologyAbstract Background Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is an autosomal dominant and the third most common inherited muscle disease. Cardiac involvement is currently described in several muscular dystrophies (MD), but there are conflicting reports in FSHD1. Mostly, FSHD1 is recognized as MD with infrequent cardiac involvement, but sudden cardiac deaths are reported in single cases. The aim of this study is to investigate whether subclinical cardiac involvement in FSHD1 patients is detectable in preserved left ventricular systolic function applying cardiovascular magnetic resonance (CMR). Methods We prospectively included patients with genetically confirmed FSHD1 (n = 52, 48 ± 15 years) and compared them with 29 healthy age-matched controls using a 1.5 T CMR scanner. Myocardial tissue differentiation was performed qualitatively using focal fibrosis imaging (late gadolinium enhancement (LGE)), fat imaging (multi-echo sequence for fat/water-separation) and parametric T2- and T1-mapping for quantifying inflammation and diffuse fibrosis. Extracellular volume fraction was calculated. A 12-lead electrocardiogram and 24-h Holter were performed for the assessment of MD-specific Groh-criteria and arrhythmia. Results Focal fibrosis by LGE was present in 13 patients (25%,10 men), fat infiltration in 7 patients (13%,5 men). T2 values did not differ between FSHD1 and healthy controls. Native T1 mapping revealed significantly higher values in patients (global native myocardial T1 values basal: FSHD1: 1012 ± 26 ms vs. controls: 985 ± 28 ms, p < 0.01, medial FSHD1: 994 ± 37 ms vs. controls: 982 ± 28 ms, p = 0.028). This was also evident in regions adjacent to focal fibrosis, indicating diffuse fibrosis. Groh-criteria were positive in 1 patient. In Holter, arrhythmic events were recorded in 10/43 subjects (23%). Conclusions Patients with FSHD1 and preserved left ventricular ejection fraction present focal and diffuse myocardial injury. Longitudinal multi-center trials are needed to define the impact of myocardial changes as well as a relation between myocardial injury and arrhythmias on long-term prognosis and therapeutic decision-making. Trial registration ISRCTN registry with study ID ISRCTN13744381.http://link.springer.com/article/10.1186/s12968-019-0537-4Magnetic resonance imagingFSHDFatFibrosisSex & gender |