Natural History of MYH7-Related Dilated Cardiomyopathy.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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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-Olaetxea Javier, Rodríguez-Palomares José F, Gallego-Delgado María, Meder Benjamin, Kubanek Milos, Hansen Frederikke G, Restrepo-Córdoba María Alejandra, Palomino-Doza Julián, Ruiz-Guerrero Luis, Sarquella-Brugada Georgia, Perez-Perez Alberto José, Bermúdez-Jiménez Francisco José, Ripoll-Vera Tomas, Rasmussen Torsten Bloch, Jansen Mark, Sabater-Molina Maria, Elliot Perry M, Garcia-Pavia Pablo, European Genetic Cardiomyopathies Initiative Investigators
Аннотация
OBJECTIVES: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.