Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy

Cardiovasc Pathol. 2010 Sep-Oct;19(5):316-20. doi: 10.1016/j.carpath.2009.06.003. Epub 2009 Jul 24.

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) represents an inherited cardiomyopathy that manifests clinically with malignant ventricular arrhythmias, sudden cardiac death, and less commonly heart failure. The condition is characterized by replacement of the myocardium, primarily of the right ventricle, with fibrofatty tissue. Extensive fibrofatty replacement of the myocardium has been previously thought to be pathognomonic of ARVC; however, this report details two other forms of inherited cardiomyopathy, namely hypertrophic cardiomyopathy (HCM) and the PRKAG2 cardiac syndrome, that were found to have significant fibrofatty myocardial replacement at pathologic examination. This report represents the first documentation of inherited cardiomyopathies mimicking ARVC and highlights the concept that other cardiac conditions can be associated with fibrofatty replacement of the myocardium.

Publication types

  • Case Reports

MeSH terms

  • AMP-Activated Protein Kinases / genetics
  • Arrhythmogenic Right Ventricular Dysplasia / pathology*
  • Cardiac Myosins / genetics
  • Cardiomyopathies / genetics
  • Cardiomyopathies / pathology*
  • Cardiomyopathies / physiopathology
  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Hypertrophic / pathology*
  • Cardiomyopathy, Hypertrophic / physiopathology
  • Diagnosis, Differential
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myosin Heavy Chains / genetics
  • Pedigree
  • Syndrome
  • Young Adult

Substances

  • MYH7 protein, human
  • PRKAG2 protein, human
  • AMP-Activated Protein Kinases
  • Cardiac Myosins
  • Myosin Heavy Chains