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European Journal of Echocardiography Advance Access published online on June 25, 2008
European Journal of Echocardiography, doi:10.1093/ejechocard/jen189
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2008. For permissions please email: journals.permissions@oxfordjournals.org

Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy

Christophe Thebault1, Romain Ollivier1, Guillaume Leurent1, Pascale Marcorelles2, Bernard Langella1 and Erwan Donal1,*

1 Department of Cardiology, University Hospital Pontchaillou, 35033 Rennes, France
2 Department of Anapathology, University Hospital, Brest, France

Received 25 February 2008; accepted after revision 30 May 2008.

* Corresponding author. Tel: +33 6 17 70 85 67. E-mail address: erwan.donal{at}chu-rennes.fr


  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.

Keywords: Mitochondriopathy; Restrictive cardiomyopathy; Heart failure


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