RT Journal Article
T1 Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
A1 Salazar-Mendiguchía, Joel
A1 Ochoa, Juan Pablo
A1 Palomino-Doza, Julian
A1 Domínguez, Fernando
A1 Díez-López, Carles
A1 Akhtar, Mohammed
A1 Ramiro-León, Soraya
A1 Clemente, María M
A1 Pérez-Cejas, Antonia
A1 Robledo, María
A1 Gómez-Díaz, Iria
A1 Peña-Peña, María Luisa
A1 Climent, Vicente
A1 Salmerón-Martínez, Francisco
A1 Hernández, Celestino
A1 García-Granja, Pablo E
A1 Mogollón, M Victoria
A1 Cárdenas-Reyes, Ivonne
A1 Cicerchia, Marcos
A1 García-Giustiniani, Diego
A1 Lamounier, Arsonval
A1 Gil-Fournier, Belén
A1 Díaz-Flores, Felícitas
A1 Salguero, Rafael
A1 Santomé, Luis
A1 Syrris, Petros
A1 Olivé, Montse
A1 García-Pavía, Pablo
A1 Ortiz-Genga, Martín
A1 Elliott, Perry M
A1 Monserrat, Lorenzo
A1 GENESCOPIC Research Group, 
K1 familial cardiomyopathies
K1 genetics
K1 hypertrophic cardiomyopathy
AB Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. We sought to investigate the relationship between rare variants in TRIM63 and the development of HCM. TRIM63 was sequenced by next generation sequencing in 4867 index cases with a clinical diagnosis of HCM and in 3628 probands with other cardiomyopathies. Additionally, 3136 index cases with familial cardiovascular diseases other than cardiomyopathy (mainly channelopathies and aortic diseases) were used as controls. Sixteen index cases with rare homozygous or compound heterozygous variants in TRIM63 (15 HCM and one restrictive cardiomyopathy) were included. No homozygous or compound heterozygous were identified in the control population. Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy. The mean age at diagnosis was 35 years (range 15-69). Fifty per cent of patients had concentric left ventricular hypertrophy (LVH) and 45% were asymptomatic at the moment of the first examination. Significant degrees of late gadolinium enhancement were detected in 80% of affected individuals, and 20% of patients had left ventricular (LV) systolic dysfunction. Fifty per cent had non-sustained ventricular tachycardia. Twenty per cent of patients suffered an adverse cerebrovascular event (20%). TRIM63 appears to be an uncommon cause of HCM inherited in an autosomal-recessive manner and associated with concentric LVH and a high rate of LV dysfunction.
YR 2020
FD 2020-05-25
LK http://hdl.handle.net/10668/15635
UL http://hdl.handle.net/10668/15635
LA en
DS RISalud
RD Apr 18, 2025