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00925njm 22002777a 4500 dc de Frutos, Fernando author Ochoa, Juan Pablo author Navarro-Peñalver, Marina author Baas, Annette author Bjerre, Jesper Vandborg author Zorio, Esther author Méndez, Irene author Lorca, Rebeca author Verdonschot, Job A J author García-Granja, Pablo Elpidio author Bilinska, Zofia author Fatkin, Diane author Fuentes-Cañamero, M Eugenia author García-Pinilla, José M author García-Álvarez, María I author Girolami, Francesca author Barriales-Villa, Roberto author Díez-López, Carles author Lopes, Luis R author Wahbi, Karim author García-Álvarez, Ana author Rodríguez-Sánchez, Ibon author Rekondo-Olaetxea, Javier author Rodríguez-Palomares, José F author Gallego-Delgado, María author Meder, Benjamin author Kubanek, Milos author Hansen, Frederikke G author Restrepo-Córdoba, María Alejandra author Palomino-Doza, Julián author Ruiz-Guerrero, Luis author Sarquella-Brugada, Georgia author Perez-Perez, Alberto José author Bermúdez-Jiménez, Francisco José author Ripoll-Vera, Tomas author Rasmussen, Torsten Bloch author Jansen, Mark author Sabater-Molina, Maria author Elliot, Perry M author Garcia-Pavia, Pablo author 2022-10-11 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. J Am Coll Cardiol . 2022 Oct 11;80(15):1447-1461. 10.1016/j.jacc.2022.07.023 1558-3597 Journal of the American College of Cardiology 36007715 http://hdl.handle.net/20.500.12105/15246 Natural History of MYH7-Related Dilated Cardiomyopathy.