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Title: Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Author: Salazar Mendiguchía, Joel
Ochoa, Juan Pablo
Palomino Doza, Julián
Domínguez, Fernando
Díez López, Carles
Akhtar, Mohammed
Ramiro León, Soraya
Clemente, María M.
Pérez Cejas, Antonia
Robledo, María
Gómez Díaz, Iria
Peña Peña, María Luisa
Climent, Vicente
Salmerón Martínez, Francisco
Hernández, Celestino
García Granja, Pablo Elpidio
Mogollón, M. Victoria
Cárdenas Reyes, Ivonne
Cicerchia, Marcos
García Giustiniani, Diego
Lamounier Jr., Arsonval
Gil Fournier, Belén
Díaz Flores, Felícitas
Salguero, Rafael
Santomé, Luis
Syrris, Petros
Olivé i Plana, Montserrat
Garcia Pavia, Pablo
Ortiz Genga, Martín
Elliott, Perry M.
Monserrat, Lorenzo
Genescopic Research Group
Keywords: Miocardiopaties
Mutació (Biologia)
Mutation (Biology)
Issue Date: 25-May-2020
Publisher: BMJ
Abstract: Objective: 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. Methods: 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. Results: 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%). Conclusion: 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.
Note: Reproducció del document publicat a:
It is part of: Heart, 2020, vol. 106, issue. 17, p. 1342-1348
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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