RT Journal Article
T1 Prognostic implications of pathogenic truncating variants in the TTN gene.
A1 Peña-Peña, Maria Luisa
A1 Ochoa, Juan Pablo
A1 Barriales-Villa, Roberto
A1 Cicerchia, Marcos
A1 Palomino-Doza, Julián
A1 Salazar-Mendiguchía, Joel
A1 Lamounier, Arsonval
A1 Trujillo, Juan Pablo
A1 Garcia-Giustiniani, Diego
A1 Fernandez, Xusto
A1 Ortiz-Genga, Martin
A1 Monserrat, Lorenzo
A1 Crespo-Leiro, Maria Generosa
K1 Dilated cardiomyopathy
K1 Genetic testing
K1 Mutation
AB TTN gene truncating variants (TTNtv) are a frequent cause of dilated cardiomyopathy (DCM). However, there are discrepant data on the associated prognosis. Our objectives were to describe the prevalence of TTNtv in our cohort and to compare the clinical course with that described in the literature. We included patients with DCM and genetic testing performed using next-generation sequencing. Through a systematic literature research, we collected information about carriers and affected relatives with TTNtv. We compared the cumulative percentage of affected carriers and the survival free of cardiovascular death. One hundred and ten DCM patients were evaluated. A total of 13 TTNtv distributed in 14 probands were identified (12.7%). We found a 21.4% prevalence in familial cases. No significant differences in the relation between age and clinical disease expression were identified. Survival free of cardiovascular death curves constructed from data in the literature seems not to overestimate the risk in our population. The identification of TTNtv in patients with DCM is frequent and provides relevant information about the disease prognosis. The risk of cardiovascular death should not be underestimated. Age related penetrance need to be considered in the familial evaluation.
YR 2020
FD 2020-05-01
LK http://hdl.handle.net/10668/15506
UL http://hdl.handle.net/10668/15506
LA en
DS RISalud
RD Apr 17, 2025