RT Journal Article
T1 Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
A1 Ochoa, Juan Pablo
A1 Sabater-Molina, Maria
A1 Garcia-Pinilla, Jose Manuel
A1 Mogensen, Jens
A1 Restrepo-Cordoba, Alejandra
A1 Palomino-Doza, Julian
A1 Villacorta, Eduardo
A1 Martinez-Moreno, Marina
A1 Ramos-Maqueda, Javier
A1 Zorio, Esther
A1 Peña-Peña, Maria L
A1 Garcia-Granja, Pablo E
A1 Rodriguez-Palomares, Jose F
A1 Cardenas-Reyes, Ivonne J
A1 de-la-Torre-Carpente, Maria M
A1 Bautista-Paves, Alicia
A1 Akhtar, Mohammed M
A1 Cicerchia, Marcos N
A1 Bilbao-Quesada, Raquel
A1 Mogollon-Jimenez, Maria Victoria
A1 Salazar-Mendiguchia, Joel
A1 Mesa-Latorre, Jose M
A1 Arnaez, Blanca
A1 Olavarri-Miguel, Ivan
A1 Fuentes-Cañamero, Maria E
A1 Lamounier, Arsonval
A1 Perez-Ruiz, Jose Maria
A1 Climent-Paya, Vicente
A1 Perez-Sanchez, Inmaculada
A1 Trujillo-Quintero, Juan P
A1 Lopes, Luis R
A1 Reparaz-Andrade, Alfredo
A1 Marin-Iglesias, Rosario
A1 Rodriguez-Vilela, Alejandro
A1 Sandín-Fuentes, Maria
A1 Garrote, Jose A
A1 Cortel-Fuster, Alejandro
A1 Lopez-Garrido, Miguel
A1 Fontalba-Romero, Ana
A1 Ripoll-Vera, Tomas
A1 Llano-Rivas, Isabel
A1 Fernandez-Fernandez, Xusto
A1 Isidoro-Garcia, Maria
A1 Garcia-Giustiniani, Diego
A1 Barriales-Villa, Roberto
A1 Ortiz-Genga, Martin
A1 Garcia-Pavia, Pablo
A1 Elliott, Perry M
A1 Gimeno, Juan R
A1 Monserrat, Lorenzo
K1 FHOD3
K1 Cardiomyopathies
K1 Formins
K1 Genetics
K1 Hypertrophic cardiomyopathy
K1 Sudden death
K1 Área de Gestión Sanitaria Sur de Sevilla
AB The 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.
PB Elsevier
YR 2018
FD 2018-08-14
LK http://hdl.handle.net/10668/13193
UL http://hdl.handle.net/10668/13193
LA en
NO Ochoa 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):2457-2467
DS RISalud
RD Apr 10, 2025