Genetic variants identified by target next-generation sequencing in heart transplant patients with dilated cardiomyopathy

Autores da FMUP

• Elisabete Lousada Martins Oliveira Bernardes

  Autor

• Sara Vanessa Amorim Leite

  Autor

• Manuel Belchior Campelo

  Autor

• José Manuel Pedrosa Baptista Lopes

  Autor

• José Carlos Lemos Machado

  Autor

• José Carlos De Magalhães Silva Cardoso

  Autor

Participantes de fora da FMUP

• Sousa, A
• Canedo, P
• Pinto, R
• Amorim, S
• Moura, B
• FATIMA Investigators

Unidades de investigação

• Cirurgia e Fisiologia

• Medicina

• Patologia

• RISE-Health

  

  Investigador

  Fernando Carlos De Landér Schmitt

Abstract

Introduction and Objectives: Dilated cardiomyopathy (DCM) is a myocardial disease that can progress to a terminal stage, requiring heart transplantation. In this work we aim to contribute to knowledge of genetic variants in adult patients undergoing heart transplantation due to end-stage DCM, reporting the results obtained in our single-center tertiary hospital series using target next-generation sequencing (NGS). Methods and Results: Genetic variants were screened in 15 genes, preselected based on variants previously identified in DCM patients. Thirteen unrelated patients were included, nine (69%) male, mean age at diagnosis 33 +/- 13 years, eight (62%) with familial DCM. Nine genetic variants were identified in six (46%) patients: five in LMNA, two in LBD3, one in TNNT2 and one in TCAP. These variants were new in most patients. The majority were classified as of uncertain significance. Two patients were double and triple heterozygotes in the LBD3 and LMNA genes, respectively. Conclusion: Our results highlight the potential of NGS in the genetic characterization of DCM patients. LMNA is one of the most frequently mutated genes and should be included in all target gene assessments of end-stage DCM patients until more data are available. (C) 2019 Sociedade Portuguesa de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.

Keywords

• Dilated cardiomyopathy; Heart transplantation; Next-generation sequencing; Genetic variants