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

Eur J Heart Fail. 2003 Dec;5(6):821-5. doi: 10.1016/s1388-9842(03)00149-1.


Background: Mutations in LMNA gene encoding two ubiquitously expressed nuclear proteins, lamins A and C, give rise to up to 7 different pathologies affecting specific tissues. Three of these disorders affect cardiac and/or skeletal muscles with atrio-ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features.

Results: A new LMNA mutation (1621C>T, R541C) was found in two members of a French family with a history of ventricular rhythm disturbances and an uncommon form of systolic left ventricle dysfunction. The two patients: the proband and his daughter, were affected and exhibited an atypical form of dilated cardiomyopathy with an unexplained left ventricle aneurysm revealed by ventricular rhythm disturbances without atrio-ventricular block.

Conclusion: This finding reinforces the highly variable phenotypic expression of LMNA mutation and emphasizes the fact that LMNA mutations can be associated with different cardiac phenotypes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Female
  • Heart Aneurysm / genetics*
  • Heart Aneurysm / physiopathology
  • Humans
  • Lamin Type A / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Ventricular Dysfunction, Left / genetics
  • Ventricular Dysfunction, Left / physiopathology


  • Lamin Type A
  • lamin C