Prognostic implications of pathogenic truncating variants in the TTN gene. (1st October 2020)

• Record Type: Journal Article
• Authors: Peña-Peña, Maria Luisa; Ochoa, Juan Pablo; Barriales-Villa, Roberto; Cicerchia, Marcos; Palomino-Doza, Julián; Salazar-Mendiguchía, Joel; Lamounier, Arsonval; Trujillo, Juan Pablo; Garcia-Giustiniani, Diego; Fernandez, Xusto; Ortiz-Genga, Martin; Monserrat, Lorenzo; Crespo-Leiro, Maria Generosa
• Is Part Of: International journal of cardiology. Volume 316(2020)
• Page Start: 180
• Page End: 183
• Publication Date: 2020-10-01
• Subjects: Dilated cardiomyopathy -- Genetic testing -- Mutation; DCM dilated cardiomyopathy -- TTNtv titin gene truncating variants -- NGS next-generation sequencing; Cardiology -- Periodicals; Electronic journals; 616.12
• DOI: 10.1016/j.ijcard.2020.04.086
• Languages: English
• ISSNs: 0167-5273

Abstract

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. Highlights: Identification of TTN gene truncating variants in DCM patients is frequent. Limited information about prognosis in genetic carriers. Risk of cardiovascular death and arrhythmias is high in these patients. Incomplete and age related penetrance; follow up should be recommended.