Apical left ventricular aneurysm without atrio‐ventricular block due to a lamin A/C gene mutation
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 card...
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Veröffentlicht in: | European journal of heart failure 2003-12, Vol.5 (6), p.821-825 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 1388-9842 1879-0844 |
DOI: | 10.1016/S1388-9842(03)00149-1 |