Prognostic Implications of Pathogenic Truncating Variants in the TTN Gene
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Prognostic Implications of Pathogenic Truncating Variants in the TTN GeneAutor(es)
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2020-05-01Cita bibliográfica
Peña-Peña ML, Ochoa JP, Barriales-Villa R, et al. Prognostic implications of pathogenic truncating variants in the TTN gene. Int J Cardiol. 2020
Resumo
[Abstract]
Introduction and objectives: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
Palabras chave
Dilated cardiomyopathy
Genetic testing
Mutation
Genetic testing
Mutation
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Dereitos
Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)
ISSN
1874-1754
0167-5273
0167-5273