Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI
| Autor: | Stephan A. C. Schoonvelde, Claudine W. B. Ruijmbeek, Judith M. A. Verhagen, Debby M. E. I. Hellebrekers, Marcel J. M. Kofflard, Michelle Michels, Alexander Hirsch |
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| Přispěvatelé: | Clinical Genetics, Radiology & Nuclear Medicine, Cardiology |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Radiology: Cardiothoracic Imaging, 5(2):e230014. Radiological Society of North America Inc. Radiol Cardiothorac Imaging |
| ISSN: | 2638-6135 |
| DOI: | 10.1148/ryct.230014 |
| Popis: | Left ventricular hypertrophy (LVH) has a broad differential diagnosis. Pathogenic variants of mitochondrial DNA are a rare cause of LVH, and cardiac MRI is a powerful technique that may aid in differentiating such rare causes. This case report presents three siblings with a pathogenic variant of the mitochondrially encoded tRNA isoleucine (MT-TI) gene. A distinctive cardiac phenotype was detected with cardiac MRI. Extensive LVH and dilatation and decreased ejection fraction were observed with a pattern of increased T2 signal and extensive late gadolinium enhancement, which was remarkably consistent among all three siblings. Keywords: Cardiomyopathies, MR Imaging, Hypertrophic Cardiomyopathy, Mitochondrial, Inherited Cardiomyopathy, Left Ventricular Hypertrophy, Cardiovascular MRI, Late Gadolinium Enhancement Supplemental material is available for this article. © RSNA, 2023 |
| Databáze: | OpenAIRE |
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