PMID- 31030674 OWN - NLM STAT- MEDLINE DCOM- 20200128 LR - 20240117 IS - 1532-429X (Electronic) IS - 1097-6647 (Print) IS - 1097-6647 (Linking) VI - 21 IP - 1 DP - 2019 Apr 29 TI - Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance. PG - 25 LID - 10.1186/s12968-019-0537-4 [doi] LID - 25 AB - 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 . FAU - Blaszczyk, Edyta AU - Blaszczyk E AD - Working Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charite - Universitatsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and Nephrology, Berlin, Germany. AD - DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany. FAU - Grieben, Ulrike AU - Grieben U AD - Muscle Research Unit, Experimental and Clinical Research Center a joint cooperation between the Charite Medical Faculty and the Max-Delbrueck Center for Molecular Medicine, Berlin, Germany. FAU - von Knobelsdorff-Brenkenhoff, Florian AU - von Knobelsdorff-Brenkenhoff F AD - Working Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charite - Universitatsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and Nephrology, Berlin, Germany. AD - DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany. AD - Department of Cardiology, Clinic Agatharied, University of Munich, Hausham, Germany. FAU - Kellman, Peter AU - Kellman P AD - National Heart, Lung and Blood Institute, National Institute of Health, Berlin, Germany. FAU - Schmacht, Luisa AU - Schmacht L AD - Working Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charite - Universitatsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and Nephrology, Berlin, Germany. AD - DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany. FAU - Funk, Stephanie AU - Funk S AD - Working Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charite - Universitatsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and Nephrology, Berlin, Germany. AD - DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany. FAU - Spuler, Simone AU - Spuler S AD - Muscle Research Unit, Experimental and Clinical Research Center a joint cooperation between the Charite Medical Faculty and the Max-Delbrueck Center for Molecular Medicine, Berlin, Germany. FAU - Schulz-Menger, Jeanette AU - Schulz-Menger J AD - Working Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charite - Universitatsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and Nephrology, Berlin, Germany. jeanette.schulz-menger@charite.de. AD - DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany. jeanette.schulz-menger@charite.de. LA - eng SI - ISRCTN/ISRCTN13744381 PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20190429 PL - England TA - J Cardiovasc Magn Reson JT - Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance JID - 9815616 SB - IM EIN - J Cardiovasc Magn Reson. 2019 Jun 3;21(1):32. PMID: 31159815 MH - Adult MH - Arrhythmias, Cardiac/etiology/physiopathology MH - Asymptomatic Diseases MH - Cardiomyopathies/*diagnostic imaging/etiology/pathology/physiopathology MH - Case-Control Studies MH - Cross-Sectional Studies MH - Female MH - Fibrosis MH - Humans MH - *Magnetic Resonance Imaging, Cine MH - Male MH - Middle Aged MH - Muscular Dystrophy, Facioscapulohumeral/*complications/diagnosis/genetics MH - Myocardium/pathology MH - Predictive Value of Tests MH - Prognosis MH - Prospective Studies MH - *Stroke Volume MH - Systole MH - *Ventricular Function, Left PMC - PMC6487526 OTO - NOTNLM OT - FSHD OT - Fat OT - Fibrosis OT - Magnetic resonance imaging OT - Sex & gender COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: The study design was approved by the local ethics committee (The ethical board of the Charite University Medicine Berlin, EA1/169/15) and conducted according to the Declaration of Helsinki. Written informed consent was obtained from all study participants. CONSENT FOR PUBLICATION: All authors approved the manuscript and are aware of the data. COMPETING INTERESTS: EB, UG, FvK, PK, LS, SF and SS declare that they have no competing interests. JSM is a scientific advisor of Bayer Healthcare AG. PUBLISHER'S NOTE: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. EDAT- 2019/04/30 06:00 MHDA- 2020/01/29 06:00 PMCR- 2019/04/29 CRDT- 2019/04/30 06:00 PHST- 2018/07/08 00:00 [received] PHST- 2019/04/02 00:00 [accepted] PHST- 2019/04/30 06:00 [entrez] PHST- 2019/04/30 06:00 [pubmed] PHST- 2020/01/29 06:00 [medline] PHST- 2019/04/29 00:00 [pmc-release] AID - S1097-6647(23)00198-9 [pii] AID - 537 [pii] AID - 10.1186/s12968-019-0537-4 [doi] PST - epublish SO - J Cardiovasc Magn Reson. 2019 Apr 29;21(1):25. doi: 10.1186/s12968-019-0537-4.