RT Journal Article
T1 Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation study.
A1 Segura-Rodríguez, Diego
A1 Bermúdez-Jiménez, Francisco José
A1 Carriel, Víctor
A1 López-Fernández, Silvia
A1 González-Molina, Mercedes
A1 Oyonarte Ramírez, José Manuel
A1 Fernández-Navarro, Laura
A1 García-Roa, María Dolores
A1 Cabrerizo, Elisa M
A1 Durand-Herrera, Daniel
A1 Alaminos, Miguel
A1 Campos, Antonio
A1 Macías, Rosa
A1 Álvarez, Miguel
A1 Tercedor, Luis
A1 Jiménez-Jáimez, Juan
K1 arrhythmogenic cardiomyopathy
K1 cardiac magnetic resonance
K1 desmin
K1 histology
K1 late gadolinium enhancement
K1 myocardial fibrosis
AB Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a life-threatening entity with a highly heterogeneous genetic background. Cardiac magnetic resonance (CMR) imaging can identify fibrofatty scar by late gadolinium enhancement (LGE). Our aim is to investigate genotype-phenotype correlation in ARVC/D mutation carriers, focusing on CMR-LGE and myocardial fibrosis patterns. A cohort of 44 genotyped patients, 33 with definite and 11 with borderline ARVC/D diagnosis, was characterized using CMR and divided into groups according to their genetic condition (desmosomal, non-desmosomal mutation, or negative). We collected information on cardiac volumes and function, as well as LGE pattern and extension. In addition, available ventricular myocardium samples from patients with pathogenic gene mutations were histopathologically analysed. Half of the patients were women, with a mean age of 41.6 ± 17.5 years. Next-generation sequencing identified a potential pathogenic mutation in 71.4% of the probands. The phenotype varied according to genetic status, with non-desmosomal male patients showing lower left ventricular (LV) systolic function. LV fibrosis was similar between groups, but distribution in non-desmosomal patients was frequently located at the posterolateral LV wall; a characteristic LV subepicardial circumferential LGE pattern was significantly associated with ARVC/D caused by desmin mutation. Histological analysis showed increased fibrillar connective tissue and intercellular space in all the samples. Desmosomal and non-desmosomal mutation carriers showed different morphofunctional features but similar LV LGE presence. DES mutation carriers can be identified by a specific and extensive LV subepicardial circumferential LGE pattern. Further studies should investigate the specificity of LGE in ARVC/D.
YR 2020
FD 2020
LK http://hdl.handle.net/10668/14658
UL http://hdl.handle.net/10668/14658
LA en
DS RISalud
RD Apr 7, 2025