De Frutos, FernandoOchoa, Juan PabloNavarro Peñalver, MarinaBaas, AnnetteBjerre, Jesper VandborgZorio, EstherMéndez, IreneLorca, RebecaVerdonschot, Job A.J.García Granja, Pablo ElpidioBilinska, ZofiaPalomino Doza, JuliánRuiz Guerrero, LuisSarquella Brugada, GeorgiaPerez Perez, Alberto JoséBermúdez Jiménez, Francisco JoséRipoll Vera, TomasRasmussen, Torsten BlochJansen, MarkSabater Molina, MaríaElliot, Perry M.Garcia Pavia, PabloCabrera Romero, EvaCobo Marcos, MartaEscobar Lopez, LuisDomínguez, FernandoGonzález López, EstherGimeno Blanes, Juan RamónDooijes, DennisLópez Ledesma, BernabéRoche Fortea, InésBermejo, JavierEspinosa, Maria AngelesFernández, Ana IsabelVilches, SilviaGómez, CristinaGómez, JuanCoto, EliecerRodríguez Reguero, José JuliánHeymans, S.R.B.Brunner, H.G.López Díaz, JavierTruszkowska, GrażynaPloski, RafalChmielewski, PrzemysławJohnson, ReneeRobles Mezcua, AinhoaDíaz Expósito, AranchaPérez Cabeza, Alejandro I.Jiménez Rubio, ClaraPayá, Vicente ClimentFavilli, SilviaSyrris, PetrosCannie, DouglasBillon, ClarisseLopez Sainz, AngelaCalvo, MargaritaFernández De Bobadilla, Ángela CacicedoOnaindia Gandarias, Jose JuanGaztañaga Arantzamendi, LarraitzZamarreño Golvano, EstibalizLimeres, JavierGutiérrez García, LauraVillacorta, EduardoHaas, JanKrebsova, AliceMogensen, JensCésar Diaz, SergioCampuzano Larrea, OscarGutiérrez, Raúl FrancoAlvarez Rubio, JorgeCremer Luengos, DavidAntoniutti, GuidoCaimi Martinez, FiamaMacías, RosaJiménez Jáimez, JuanPeña Peña, María LuisaDíez Aja López, Salvador LucasAcereda, Tania PinoCorada, Blanca ArnáezPiqueras Flores, JesúsNegreira Caamaño, MartinDel Río, Jorge MartinezMogollón Jiménez, María VictoriaVillanueva, ElenaGonzáles, José LuisFernández, AdriánToscanini, UlisesFavaloro, Lilian E.Díez, Carlota HernándezFatkin, DianeFuentes Cañamero, M. EugeniaGarcía Pinilla, José ManuelGarcía Álvarez, MaríaGirolami, FrancescaBarriales Villa, RobertoDíez López, CarlesLopes, Luis R.Wahbi, KarimGarcía Álvarez, AnaRodríguez Sánchez, IbonRekondo Olaetxea, JavierRodríguez Palomares, José F.Gallego Delgado, MaríaMeder, BenjaminKubanek, MilosHansen, Frederikke G.Restrepo Córdoba, María Alejandra2022-12-132022-12-132022-10-011558-3597https://hdl.handle.net/2445/191508BACKGROUND 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. 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. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.15 p.application/pdfengcc by-nc-nc (c) De Frutos, Fernando et al., 2022http://creativecommons.org/licenses/by-nc-nd/3.0/es/GenèticaMiocardiopatiesGeneticsMyocardiopathiesinfo:eu-repo/semantics/article2022-12-07info:eu-repo/semantics/openAccess36007715