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Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Disease definition

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

ORPHA:300751

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: I42.0
  • OMIM: 115200
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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