Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy

Eur J Echocardiogr. 2008 Nov;9(6):840-5. doi: 10.1093/ejechocard/jen189. Epub 2008 Jun 25.

Abstract

When diagnosing a restrictive hypertrophied cardiomyopathy, most echocardiographists consider cardiac amyloidosis as a possible cause, especially after the appearance of 'granular' sparkling echoes on a transthoracic echocardiography. However, other infiltrative diseases (i.e. metabolic myopathies, Gaucher, Hunter's, and Hurler's diseases) or storage cardiomyopathies (haemochromatosis, Fabry's disease, glycogen storage, and Niemann-Pick disease) should be considered. In this paper, we report on another unusual cause of restrictive cardiomyopathy of which all cardiologists should be aware.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Restrictive / diagnostic imaging*
  • Cardiomyopathy, Restrictive / genetics
  • Cardiomyopathy, Restrictive / pathology
  • Diabetes Mellitus / diagnostic imaging*
  • Diabetes Mellitus / genetics
  • Diabetes Mellitus / pathology
  • Diagnosis, Differential
  • Female
  • Heart Failure / etiology
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging
  • Middle Aged
  • Mitochondria, Heart* / pathology
  • Mitochondria, Heart* / ultrastructure
  • Mitochondrial Diseases / diagnostic imaging*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology
  • Point Mutation
  • Ultrasonography