2015
DOI: 10.1186/s12968-015-0145-x
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Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy

Abstract: BackgroundMitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography have revealed cardiac abnormalities ranging from conduction abnormalities and arrhythmias to hypertrophic or dilated cardiomyopathy in these patients. Recently, characteristic patterns of cardiac involvement were docum… Show more

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Cited by 60 publications
(52 citation statements)
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“…Another interesting mechanism involved in the development of the LGE pattern observed in MELAS patients might be vessels leakage due to mitochondrial angiopathy, such as for stroke-like lesions [9]. The vasogenic effect translates into changes in microvascular permeability and extracellular edema formation that may in part contribute to the myocardial LGE [9]. That is in accordance with the presence of multifocal edema at the T2-STIR sequences [9].…”
Section: Discussionmentioning
confidence: 90%
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“…Another interesting mechanism involved in the development of the LGE pattern observed in MELAS patients might be vessels leakage due to mitochondrial angiopathy, such as for stroke-like lesions [9]. The vasogenic effect translates into changes in microvascular permeability and extracellular edema formation that may in part contribute to the myocardial LGE [9]. That is in accordance with the presence of multifocal edema at the T2-STIR sequences [9].…”
Section: Discussionmentioning
confidence: 90%
“…Furthermore, late gadolinium enhancement (LGE) at MRI, which reflects expansion of the myocardial interstitium caused by disperse interstitial fibrosis, partial myocardial disarray, and fibrous replacement of irreversibly injured myocytes, was present in 73% of patients ( n = 8/11) with a diffuse, nonischemic (predominantly intramural), patchy pattern [9], such as in the presented case. Another interesting mechanism involved in the development of the LGE pattern observed in MELAS patients might be vessels leakage due to mitochondrial angiopathy, such as for stroke-like lesions [9]. The vasogenic effect translates into changes in microvascular permeability and extracellular edema formation that may in part contribute to the myocardial LGE [9].…”
Section: Discussionmentioning
confidence: 99%
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“…This study aimed to characterize the prevalence and pattern of cardiac abnormalities and to test the additional diagnostic value of CMR in this patient population [82]. Based on assessment of 64 MM patients, cardiac involvement was a frequent finding in MM patients.…”
Section: Cardiomyopathymentioning
confidence: 99%