Ochoa, Juan PabloSabater-Molina, MariaGarcia-Pinilla, Jose ManuelMogensen, JensRestrepo-Cordoba, AlejandraPalomino-Doza, JulianVillacorta, EduardoMartinez-Moreno, MarinaRamos-Maqueda, JavierZorio, EstherPeña-Peña, Maria LGarcia-Granja, Pablo ERodriguez-Palomares, Jose FCardenas-Reyes, Ivonne Jde-la-Torre-Carpente, Maria MBautista-Paves, AliciaAkhtar, Mohammed MCicerchia, Marcos NBilbao-Quesada, RaquelMogollon-Jimenez, Maria VictoriaSalazar-Mendiguchia, JoelMesa-Latorre, Jose MArnaez, BlancaOlavarri-Miguel, IvanFuentes-Cañamero, Maria ELamounier, ArsonvalPerez-Ruiz, Jose MariaCliment-Paya, VicentePerez-Sanchez, InmaculadaTrujillo-Quintero, Juan PLopes, Luis RReparaz-Andrade, AlfredoMarin-Iglesias, RosarioRodriguez-Vilela, AlejandroSandín-Fuentes, MariaGarrote, Jose ACortel-Fuster, AlejandroLopez-Garrido, MiguelFontalba-Romero, AnaRipoll-Vera, TomasLlano-Rivas, IsabelFernandez-Fernandez, XustoIsidoro-Garcia, MariaGarcia-Giustiniani, DiegoBarriales-Villa, RobertoOrtiz-Genga, MartinGarcia-Pavia, PabloElliott, Perry MGimeno, Juan RMonserrat, Lorenzo2023-01-252023-01-252018-08-14Ochoa JP, Sabater-Molina M, García-Pinilla JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, et al. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467http://hdl.handle.net/10668/13193The genetic cause of hypertrophic cardiomyopathy remains unexplained in a substantial proportion of cases. Formin homology 2 domain containing 3 (FHOD3) may have a role in the pathogenesis of cardiac hypertrophy but has not been implicated in hypertrophic cardiomyopathy. This study sought to investigate the relation between FHOD3 mutations and the development of hypertrophic cardiomyopathy. FHOD3 was sequenced by massive parallel sequencing in 3,189 hypertrophic cardiomyopathy unrelated probands and 2,777 patients with no evidence of cardiomyopathy (disease control subjects). The authors evaluated protein-altering candidate variants in FHOD3 for cosegregation, clinical characteristics, and outcomes. The authors identified 94 candidate variants in 132 probands. The variants' frequencies were significantly higher in patients with hypertrophic cardiomyopathy (74 of 3,189 [2.32%]) than in disease control subjects (18 of 2,777 [0.65%]; p  FHOD3 is a novel disease gene in hypertrophic cardiomyopathy, accounting for approximately 1% to 2% of cases. The phenotype and the rate of cardiovascular events are similar to those reported in unselected cohorts. The FHOD3 gene should be routinely included in hypertrophic cardiomyopathy genetic testing panels.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/FHOD3CardiomyopathiesForminsGeneticsHypertrophic cardiomyopathySudden deathÁrea de Gestión Sanitaria Sur de SevillaAdolescentAdultAgedAged, 80 and overCardiomyopathy, HypertrophicChildCohort StudiesFemaleFollow-Up StudiesForminsGenetic VariationHumansMaleMicrofilament ProteinsMiddle AgedMutationPedigreeYoung Adultresearch article30442288open accessCardiomiopatía HipertróficaCardiomiopatíasPruebas GenéticasMutación10.1016/j.jacc.2018.10.0011558-3597https://doi.org/10.1016/j.jacc.2018.10.001