780ba97f3c26e7a09fb08fd5fab9f8a0 320787.pdf 4b8a2742db223e707c296edb4e148e819c7e50e5 320787.pdf c073c1869e658adab48246410e30e4410d402e23dd239a11c3c47eb1770a98f7 320787.pdf Title: Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure Subject: DOI: 10.1093/eurheartj/ehad561; European Heart Journal, 44, 48, 2023-08-28.; Abstract: Background and Aims: Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Methods: Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). Results: Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43. Keywords: Emery–Dreifuss muscular dystrophy; Emerin; Cardiomyopathy; Sudden death; Ventricular arrhythmia; Heart failure Author: Douglas E. 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Cannie Subject: DOI: 10.1093/eurheartj/ehad561; European Heart Journal, 44, 48, 2023-08-28.; Abstract: Background and Aims: Emery Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Methods: Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). Results: Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43. Keywords: Emery Dreifuss muscular dystrophy; Emerin; Cardiomyopathy; Sudden death; Ventricular arrhythmia; Heart failure Creator: Servigistics Arbortext Advanced Print Publisher 11.1.4546/W-x64 Producer: PDFlib+PDI 9.0.7p3 (C++/Win64); modified using iTextSharp.LGPLv2.Core 3.7.4.0 CreationDate: Fri Dec 15 20:02:11 CET 2023 ModDate: Sat Nov 15 08:43:11 CET 2025 ID: 0xa217648c2519276ab826136759c03792, 0xe9e51e2ede644e890775c4330f84ee88 Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 1266 ImageHeight: 1188 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 900 ImageHeight: 611 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 1266 ImageHeight: 525 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Fonts: Type0: Font: BaseFont: CFQGLH+GillSansNova-Bold Encoding: Identity-H ToUnicode: true Font: BaseFont: MFPCFI+GillSansNova-BoldItalic Encoding: Identity-H ToUnicode: true Font: BaseFont: SWYNJD+GillSansNova-Book Encoding: Identity-H ToUnicode: true Font: BaseFont: UMWLFL+GillSansNova-BookItalic Encoding: Identity-H ToUnicode: true Font: BaseFont: TNVFNU+GillSansNova-Heavy Encoding: Identity-H ToUnicode: true Type1: Font: BaseFont: IFDAQK+STIXGeneral-Regular FontSubset: true FirstChar: 1 LastChar: 7 FontDescriptor: FontName: IFDAQK+STIXGeneral-Regular Flags: Nonsymbolic FontBBox: -995, -455, 2000, 1055 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true TrueType: Font: BaseFont: LSXWHB+ArialMT FontSubset: true FirstChar: 32 LastChar: 121 FontDescriptor: FontName: LSXWHB+ArialMT Flags: Nonsymbolic FontBBox: -664, -324, 2000, 1039 FontFile2: true Encoding: WinAnsiEncoding CIDFontType2: Font: BaseFont: UMWLFL+GillSansNova-BookItalic CIDSystemInfo: Registry: Adobe Registry: Identity Supplement: 0 FontDescriptor: FontName: UMWLFL+GillSansNova-BookItalic Flags: Nonsymbolic, Italic FontBBox: -316, -235, 1219, 950 FontFile2: true Font: BaseFont: TNVFNU+GillSansNova-Heavy CIDSystemInfo: Registry: Adobe Registry: Identity Supplement: 0 FontDescriptor: FontName: TNVFNU+GillSansNova-Heavy Flags: Nonsymbolic, ForceBold FontBBox: -504, -287, 1375, 966 FontFile2: true Font: BaseFont: MFPCFI+GillSansNova-BoldItalic CIDSystemInfo: Registry: Adobe Registry: Identity Supplement: 0 FontDescriptor: FontName: MFPCFI+GillSansNova-BoldItalic Flags: Nonsymbolic, Italic, ForceBold FontBBox: -404, -250, 1219, 960 FontFile2: true Font: BaseFont: CFQGLH+GillSansNova-Bold CIDSystemInfo: Registry: Adobe Registry: Identity Supplement: 0 FontDescriptor: FontName: CFQGLH+GillSansNova-Bold Flags: Nonsymbolic, ForceBold FontBBox: -476, -276, 1276, 961 FontFile2: true Font: BaseFont: SWYNJD+GillSansNova-Book CIDSystemInfo: Registry: Adobe Registry: Identity Supplement: 0 FontDescriptor: FontName: SWYNJD+GillSansNova-Book Flags: Nonsymbolic FontBBox: -420, -251, 1219, 950 FontFile2: true XMP: uuid:3580ee99-d57c-4766-a0b9-2cd9bee63554 uuid:6A2A79AE-9B9A-56B7-799F-4CD5DC2DB87A True Emery–Dreifuss muscular dystrophy; Emerin; Cardiomyopathy; Sudden death; Ventricular arrhythmia; Heart failure PDFlib+PDI 9.0.7p3 (C++/Win64); modified using iTextSharp.LGPLv2.Core 3.7.4.0 application/pdf 10.1093/eurheartj/ehad561 en Oxford University Press Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure Douglas E. Cannie Petros Syrris Alexandros Protonotarios Athanasios Bakalakos Jean-François Pruny Raffaello Ditaranto Cristina Martinez-Veira Jose M. Larrañaga-Moreira Kristen Medo Francisco José Bermúdez-Jiménez Rabah Ben Yaou France Leturcq Ainhoa Robles Mezcua Chiara Marini-Bettolo Eva Cabrera Chloe Reuter Javier Limeres Freire José F. Rodríguez-Palomares Luisa Mestroni Matthew R.G. Taylor Victoria N. Parikh Euan A. Ashley Roberto Barriales-Villa Juan Jiménez-Jáimez Pablo Garcia-Pavia Philippe Charron Elena Biagini José M. García Pinilla John Bourke Konstantinos Savvatis Karim Wahbi Perry M. Elliott DOI: 10.1093/eurheartj/ehad561; European Heart Journal, 44, 48, 2023-08-28.; Abstract: Background and Aims: Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Methods: Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). Results: Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43. © The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology. Emery–Dreifuss muscular dystrophy Emerin Cardiomyopathy Sudden death Ventricular arrhythmia Heart failure Journal European Heart Journal © The Author(s) 2023. 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