Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation.

Autor:	de Frutos F; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2, Majadahonda, Madrid, 28222, Spain.; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands., Ochoa JP; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2, Majadahonda, Madrid, 28222, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands.; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, Madrid, 28029, Spain., Fernández AI; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain., Gallego-Delgado M; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; Department of Cardiology, CSUR Cardiopatías Familiares, Complejo Asistencial Universitario de Salamanca (CAUSA), Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain., Navarro-Peñalver M; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands.; Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Virgen de la Arrixaca, El Palmar (Murcia), Spain., Casas G; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands.; Servicio de Cardiología, Hospital Universitario Vall Hebrón, Institut de Recerca Vall Hebrón (VHIR), Departamento de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain., Basurte MT; Department of Cardiology, Área del Corazón, Hospital Universitario de Navarra, Pamplona, Spain.; IdiSNA-Instituto de Investigación Sanitaria de Navarra, Pamplona, Navarra, Spain., Larrañaga-Moreira JM; Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain., Mogollón MV; Complejo Hospitalario Universitario de Cáceres, Cáceres, Spain., Robles-Mezcua A; Heart Failure and Familial Heart Diseases Unit, Cardiology Department, Hospital Universitario Virgen de la Victoria, IBIMA, Malaga, Spain., García-Granja PE; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; Cardiology Department, Instituto de Ciencias del Corazón (ICICOR), Hospital Clínico Universitario de Valladolid, Valladolid, Spain., Climent V; Inherited Cardiovascular Diseases Unit, Department of Cardiology, Hospital General Universitario de Alicante, Institute of Health and Biomedical Research, Alicante, Spain., Palomino-Doza J; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; Cardiology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, Madrid, Spain., García-Álvarez A; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, Madrid, 28029, Spain.; Cardiology Department, Hospital Clínic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain., Brion M; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; Xenética Cardiovascular, Instituto de Investigación Sanitaria de Santiago, Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complexo Hospitalario Universitario de Santiago de Compostela, Spain., Brugada R; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain.; Cardiology Service, Hospital Josep Trueta, University of Girona, 17007 Girona, Spain.; Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain., Jiménez-Jáimez J; Department of Cardiology, Virgen de las Nieves University Hospital, 18014 Granada, Spain.; Instituto de Investigacion Biosanitaria de Granada IBS, 18014 Granada, Spain., Bayes-Genis A; Heart Institute, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain., Ripoll-Vera T; Hospital Universitario Son Llatzer, IdISBa, Palma de Mallorca, Spain., Peña-Peña ML; Unidad de Imagen y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Rodríguez-Palomares JF; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands.; Servicio de Cardiología, Hospital Universitario Vall Hebrón, Institut de Recerca Vall Hebrón (VHIR), Departamento de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain., Gonzalez-Carrillo J; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands.; Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Virgen de la Arrixaca, El Palmar (Murcia), Spain., Villacorta E; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; Department of Cardiology, CSUR Cardiopatías Familiares, Complejo Asistencial Universitario de Salamanca (CAUSA), Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain., Espinosa MA; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands.; Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain., Garcia-Pavia P; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2, Majadahonda, Madrid, 28222, Spain.; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands.; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, Madrid, 28029, Spain.; Universidad Francisco de Vitoria, Carretera Pozuelo KM1800, Majadajonda 28223, Spain., Mirelis JG; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2, Majadahonda, Madrid, 28222, Spain.; CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5, ‌Madrid, 28029, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, The Netherlands.
Jazyk:	angličtina
Zdroj:	European heart journal. Cardiovascular Imaging [Eur Heart J Cardiovasc Imaging] 2023 Dec 21; Vol. 25 (1), pp. 75-85.
DOI:	10.1093/ehjci/jead184
Abstrakt:	Aims: Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the risk of major ventricular arrhythmias (MVA) according to patterns. Methods and Results: Cardiac magnetic resonance findings and LGE distribution according to genetics were performed in a cohort of 600 DCM patients followed at 20 Spanish centres. After exclusion of individuals with multiple causative gene variants or with variants in infrequent DCM-causing genes, 577 patients (34% females, mean age 53.5 years, left ventricular ejection fraction 36.9 ± 13.9%) conformed to the final cohort. A causative genetic variant was identified in 219 (38%) patients, and 147 (25.5%) had LGE. Significant differences were found comparing LGE patterns between genes (P < 0.001). LGE was absent or rare in patients with variants in TNNT2, RBM20, and MYH7 (0, 5, and 20%, respectively). Patients with variants in DMD, DSP, and FLNC showed a predominance of LGE subepicardial patterns (50, 41, and 18%, respectively), whereas patients with variants in TTN, BAG3, LMNA, and MYBPC3 showed unspecific LGE patterns. The genetic yield differed according to LGE patterns. Patients with subepicardial, lineal midwall, transmural, and right ventricular insertion points or with combinations of LGE patterns showed an increased risk of MVA compared with patients without LGE. Conclusion: LGE patterns in DCM have a specific distribution according to the affected gene. Certain LGE patterns are associated with an increased risk of MVA and with an increased yield of genetic testing. Competing Interests: Conflict of interest: None declared. (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.)
Databáze:	MEDLINE
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