• Maria Luisa Peña-Peña, Juan Pablo Ochoa, Roberto Barriales-Villa, Marcos Cicerchia, Julián Palomino-Doza, Joel Salazar-Mendiguchia, Arsonval Lamounier, Juan Pablo Trujillo, Diego Garcia-Giustiniani, Xusto Fernandez, Martin Ortiz-Genga, Lorenzo Monserrat, and Maria Generosa Crespo-Leiro.
• Servicio de Cardiología, Hospital Universitario Virgen del Rocío, Sevilla, España; Universidad de A Coruña (UDC), A Coruña, España. Electronic address: marialuisacardio@gmail.com.
• Med Clin (Barc). 2021 May 21; 156 (10): 485-495.

Introduction And ObjectivesDilated cardiomyopathy (DCM) is the most frequent cause of heart transplantation. The prevalence of familial disease can reach 50%. Our objective was to describe the genetic basis of DCM in a cohort with a high proportion of transplanted patients.MethodsWe included patients with DCM and genetic testing performed using next-generation sequencing (NGS) that included at least 80 genes. Clinical data, family history and genetic results were retrospectively analysed. When possible, assessment of first-degree relatives was carried out.ResultsEighty-seven DCM patients and 308 relatives from 70 families were evaluated. Clinical prevalence of familial disease was 37% (32 patients). Forty-four percent of patients (38 patients) had required heart transplantation. A relevant variant was found in 43 patients (49%), 25 patients (29%) carried variants of unknown significance and in 19 patients (22%) the study was negative. Most genetic variants were found in sarcomeric genes and the yield of genetic testing was higher in patients with familial DCM.ConclusionsThe yield of genetic testing in our DCM cohort was high, reaching 69% in familial cases. Mutational spectrum was heterogeneous and the identification of the specific aetiology of the disease often provided prognostic information.Copyright © 2020 Elsevier España, S.L.U. All rights reserved.

16 keywords...

hide…