Abstract
The mitochondrial diseases are a heterogeneous group of rare disorders which can affect virtually all organ systems, like the heart, the brain and the skeletal muscles. Most of the mitochondrial diseases are caused by mutations in the nuclear DNA, but approximately 15% are caused by mutations in the mitochondrial DNA, making genetic counseling difficult. The combination of cardiomyopathy, deafness, diabetes, encephalopathy and myopathy suggests mitochondrial disease.
Cardiomyopathy, however, may be the first and only symptom. MELAS syndrome with hypertrophic cardiomyopathy and Kearns-Sayre syndrome with progressive conduction disorders are two examples of mitochondrial disease.
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de Jonge, N., Kirkels, J.H. (2016). Mitochondrial Cardiomyopathy. In: Baars, H., Doevendans, P., Houweling, A., van Tintelen, J. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-319-44203-7_9
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