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A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death

Alexandra Pérez-Serra1, Rocío Toro2, Oscar Campuzano3

  • 1Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain.

Journal of Cardiac Failure
|December 16, 2014
PubMed

Insights

A novel mutation in the LMNA gene was identified in a Spanish family with dilated cardiomyopathy (DCM) and sudden cardiac death. Genetic carriers showed electrical dysfunction preceding mechanical abnormalities.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Pathology

Background:

  • Dilated cardiomyopathy (DCM) is a primary cause of heart failure and transplantation, often with an unknown genetic basis.
  • Over 50 genes are linked to DCM, but genetic origins remain elusive in many cases.
  • Sudden cardiac death is a significant concern in families with DCM.

Purpose of the Study:

  • To investigate the genetic underpinnings of DCM in a Spanish family with a history of sudden cardiac death.
  • To identify specific genetic mutations responsible for dilated cardiomyopathy within the affected family.
  • To analyze the inheritance pattern and clinical manifestations of the identified genetic mutation.

Main Methods:

  • Clinical evaluations were conducted on the proband and family members.
  • Genetic screening was performed to identify mutations.
  • Family segregation analysis was utilized to confirm mutation inheritance.

Main Results:

  • Nine family members presented with clinical symptoms of DCM.
  • A novel mutation in the LMNA gene (c.871 G>A, p.E291K) was identified in 20 family members.
  • All clinically affected individuals carried the novel LMNA mutation.
  • Electrical dysfunction preceded mechanical and structural abnormalities in genetic carriers.

Conclusions:

  • A novel pathogenic mutation in LMNA is associated with dilated cardiomyopathy.
  • Comprehensive genetic studies are beneficial for families affected by DCM.
  • Early identification of electrical dysfunction in carriers is crucial.
Abstract

Keywords:
Dilated cardiomyopathylamin A/Cnovel mutationsudden cardiac death

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