Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation

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Direct Re-implantation of Left Coronary Artery into the Aorta in Adults with Anomalous Origin of Left Coronary Artery from the Pulmonary Artery (ALCAPA)
13:10

Direct Re-implantation of Left Coronary Artery into the Aorta in Adults with Anomalous Origin of Left Coronary Artery from the Pulmonary Artery (ALCAPA)

Published on: April 24, 2017

Jean-François Forissier1, Gisèle Bonne, Christiane Bouchier

  • 1Service de Cardiologie, Hôpital Ambroise Paré, Boulogne-Billancourt, France.

European Journal of Heart Failure
|December 17, 2003
PubMed

Insights

Mutations in the LMNA gene cause various disorders. A novel LMNA mutation (R541C) was identified in a family with atypical dilated cardiomyopathy and ventricular rhythm disturbances.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiology

Background:

  • Mutations in the LMNA gene lead to diverse pathologies affecting specific tissues.
  • Three LMNA-related disorders impact cardiac and skeletal muscles, featuring conduction disturbances, dilated cardiomyopathy, and sudden cardiac death.

Observation:

  • A novel LMNA mutation (1621C>T, R541C) was identified in two members of a French family.
  • The affected individuals presented with ventricular rhythm disturbances and an unusual form of systolic left ventricle dysfunction.

Findings:

  • The proband and his daughter exhibited an atypical dilated cardiomyopathy.
  • An unexplained left ventricle aneurysm was revealed by ventricular rhythm disturbances, notably without atrio-ventricular block.

Implications:

  • This case highlights the significant phenotypic variability associated with LMNA mutations.
  • LMNA mutations can manifest with diverse cardiac phenotypes, underscoring the complexity of laminopathies.
Abstract

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