- Oral presentation
- Open Access
Cardiac involvement in laminopathies
© Boriani et al. 2015
Published: 11 November 2015
Lamin A/C gene mutations can be associated with myocardial diseases, usually characterized by dilated cardiomyopathy and/or arrhythmic disorders. Phenotypic penetrance is age-related but expression is extremely heterogeneous, so that muscular and arrhythmic disease can be present in combination in the same patient, or one phenotypic manifestation can appear earlier than the other or even not become overt for a long time period. From a cardiological point of view, aetiological diagnosis in dilated cardiomyopathy, and specifically the diagnosis of cardiolaminopathy, is relevant, since clinical and prognostic implications as well as specific management strategies can be different, particularly with regard to prevention of sudden cardiac death.
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