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

Elisabete Martins1, Alexandra Sousa2, Paulo Canedo3

  • 1Department of Medicine, Faculty of Medicine, University of Porto, Portugal; Institute for Innovation and Health Research (I3S), Porto, Portugal; Department of Cardiology, Centro Hospitalar Universitário de São João, E.P.E., Porto, Portugal.

Revista Portuguesa De Cardiologia
|July 16, 2019
PubMed

Insights

Genetic testing in end-stage dilated cardiomyopathy (DCM) patients undergoing heart transplantation identified new variants, particularly in the LMNA gene. This highlights the utility of next-generation sequencing (NGS) for genetic characterization in advanced DCM.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a severe heart muscle disease.
  • End-stage DCM often necessitates heart transplantation.
  • Understanding genetic underpinnings is crucial for DCM management.

Purpose of the Study:

  • To identify genetic variants in adult patients with end-stage DCM undergoing heart transplantation.
  • To contribute to the knowledge of genetic factors in DCM.
  • To evaluate the role of target next-generation sequencing (NGS) in this patient cohort.

Main Methods:

  • Targeted next-generation sequencing (NGS) was employed.
  • Fifteen preselected genes known for DCM associations were screened.
  • Genetic variants were analyzed in 13 unrelated adult patients with end-stage DCM.

Main Results:

  • Nine genetic variants were identified in six (46%) patients.
  • Mutations were found in LMNA, LBD3, TNNT2, and TCAP genes.
  • Most identified variants were novel and classified as of uncertain significance; some patients had multiple variants.

Conclusions:

  • NGS is a valuable tool for the genetic characterization of DCM patients.
  • The LMNA gene is frequently implicated in DCM and should be routinely assessed.
  • Further research is needed to clarify the significance of identified variants.
Abstract

Keywords:
Dilated cardiomyopathyGenetic variantsHeart transplantationMiocardiopatia dilatadaNext-generation sequencingSequenciação de nova geraçãoTransplante cardíacoVariantes genéticas

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