Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy

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 ri...

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Autores: De Frutos, Fernando|||0000-0003-4350-3217, Ochoa, Juan Pablo|||0000-0002-7966-0313, Fernández, Ana Isabel, Gallego-Delgado, María|||0000-0003-0726-9646, Navarro-Peñalver, Marina, Casas, Guillem|||0000-0001-7122-320X, Basurte-Elorz, María Teresa|||0000-0002-8689-0301, Larrañaga-Moreira, José María, Mogollón, María Victoria, Robles-Mezcua, Ainhoa, García-Granja, Pablo Elpidio|||0000-0002-0750-1567, Climent, Vicente|||0000-0001-7362-1922, Palomino-Doza, Julián, García-Álvarez, Ana|||0000-0002-1718-2424, Brion, María|||0000-0001-7463-2148, Brugada, Ramon|||0000-0001-6607-3032, Jiménez-Jáimez, Juan|||0000-0001-5541-898X, Bayés-Genís, Antoni|||0000-0002-3044-197X, Ripoll-Vera, Tomás|||0000-0001-9222-325X, Peña-Peña, María Luisa, Rodríguez Palomares, José F.|||0000-0002-7229-9780, Gonzalez-Carrillo, Josefa, Villacorta, Eduardo|||0000-0003-0486-1740, Espinosa, Maria Angeles, García-Pavía, Pablo|||0000-0002-5470-2257, Mirelis, Jesus G.
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:292973
Acceso en línea:https://ddd.uab.cat/record/292973
https://dx.doi.org/urn:doi:10.1093/ehjci/jead184
Access Level:acceso abierto
Palabra clave:Dilated cardiomyopathy
Late gadolinium enhancement
Cardiac magnetic resonance
Genetics
Sudden cardiac death
Descripción
Sumario: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. 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. 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.

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