Key result
A 59-year-old male with maternally inherited diabetes and deafness presented with cardiomyopathy and kidney disease caused by the 3243A>G mutation of mitochondrial DNA.
Case Report (n=1)
Highlights the presentation of cardiomyopathy and kidney disease as manifestations of mitochondrial cytopathy due to the 3243A>G mutation in an adult.
May warrant mtDNA testing in cardiomyopathy with maternally inherited diabetes and deafness; extends 3243A>G phenotype but leaves screening implications open.
Cardiomyopathy is a manifestation of mitochondrial cytopathies, but rarely constitutes the dominant feature, especially in adults. We report the case of a 59-year-old male with a personal and maternal history of diabetes and deafness, who presented with cardiomyopathy and kidney disease. We diagnosed the patient as having a mitochondrial cytopathy resulting from the 3243A>G mutation on the tRNA(Leu(UUR)) gene in the mitochondrial DNA. The family history, broad spectrum of clinical manifestations and fluctuant clinical course provided clues to the diagnosis. We discuss the possible mechanisms underlying the phenotypic variability and fluctuant clinical course of mitochondrial disorders and the potential usefulness of coenzyme Q10 and L-carnitine in 3243A>G mutation patients.
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Azevedo et al. (2009) conducted a case report in Mitochondrial cytopathy with cardiomyopathy and kidney disease (n=1). 3243A>G mutation of mitochondrial DNA was evaluated. A 59-year-old male with maternally inherited diabetes and deafness presented with cardiomyopathy and kidney disease caused by the 3243A>G mutation of mitochondrial DNA.
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