Natural History of MYH7-Related Dilated Cardiomyopathy

Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. We sought to determine the phenotype and prognosis of MYH7-related DCM. W...

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Detalles Bibliográficos
Autores: de Frutos, Fernando, Ochoa, Juan Pablo, Navarro-Peñalver, Marina, Baas, Annette, Bjerre, Jesper Vandborg, Zorio, Esther, Méndez, Irene, Lorca, Rebeca, Verdonschot, Job A J, García-Granja, Pablo Elpidio, Bilinska, Zofia, Fatkin, Diane, Fuentes-Cañamero, M Eugenia, García-Pinilla, José M, García-Álvarez, María I, Girolami, Francesca, Barriales-Villa, Roberto, Díez-López, Carles, Lopes, Luis R, Wahbi, Karim, García-Álvarez, Ana, Rodríguez-Sánchez, Ibon, Rekondo, Javier, Rodríguez-Palomares, José F, Gallego-Delgado, María, Meder, Benjamin, Kubanek, Milos, Hansen, Frederikke G, Restrepo-Cordoba, Alejandra, Palomino-Doza, Julian, Ruiz-Guerrero, Luis, Sarquella-Brugada, Georgia, Perez-Perez, Alberto José, Bermúdez-Jiménez, Francisco José, Ripoll, Tomás, Rasmussen, Torsten Bloch, Jansen, Mark, Sabater-Molina, Maria, Elliot, Perry M, Garcia-Pavia, Pablo
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:docusalut.com:20.500.13003/18620
Acceso en línea:https://hdl.handle.net/20.500.13003/18620
Access Level:acceso abierto
Palabra clave:Cardiac Myosins
Young Adult
Adult
Cardiomyopathy, Dilated
Humans
Adolescent
Middle Aged
Ventricular Remodeling
Arrhythmias, Cardiac
Heart Failure
Phenotype
Male
Female
Myosin Heavy Chains
Cadenas Pesadas de Miosina
Remodelación Ventricular
Miosinas Cardíacas
Femenino
Adolescente
Masculino
Insuficiencia Cardíaca
Cardiomiopatía Dilatada
Arritmias Cardíacas
Humanos
Persona de Mediana Edad
Adulto Joven
Fenotipo
Adulto
Descripción
Sumario:Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare.

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