Highlights mitochondriopathy as a rare but important differential diagnosis for restrictive cardiomyopathy, beyond typical infiltrative or storage diseases.
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Mitochondriopathy warrants inclusion in restrictive cardiomyopathy differentials; this case report leaves open systematic prevalence and screening studies.
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.
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Thébault et al. (2008) studied this question.
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