Schoonvelde Stephan A C, Ruijmbeek Claudine W B, Verhagen Judith M A, Hellebrekers Debby M E I, Kofflard Marcel J M, Michels Michelle, Hirsch Alexander
Departments of Cardiology (S.A.C.S., M.M., A.H.), Clinical Genetics (C.W.B.R., J.M.A.V.), and Radiology and Nuclear Medicine (A.H.), Erasmus Medical Center, University Medical Center Rotterdam, Doctor Molewaterplein 40, Room Rg-419, 3015 GD Rotterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands (D.M.E.I.H.); and Department of Cardiology, Albert Schweitzer Hospital, Dordrecht, the Netherlands (M.J.M.K.).
Radiol Cardiothorac Imaging. 2023 Apr 13;5(2):e230014. doi: 10.1148/ryct.230014. eCollection 2023 Apr.
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 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. Cardiomyopathies, MR Imaging, Hypertrophic Cardiomyopathy, Mitochondrial, Inherited Cardiomyopathy, Left Ventricular Hypertrophy, Cardiovascular MRI, Late Gadolinium Enhancement © RSNA, 2023.
左心室肥厚（LVH）有广泛的鉴别诊断。线粒体DNA的致病变异是LVH的罕见病因，心脏磁共振成像（MRI）是一种强大的技术，可能有助于区分此类罕见病因。本病例报告介绍了三名携带线粒体编码异亮氨酸tRNA基因致病变异的兄弟姐妹。通过心脏MRI检测到一种独特的心脏表型。观察到广泛的LVH和扩张以及射血分数降低，伴有T2信号增加和广泛的钆延迟强化模式，这在所有三名兄弟姐妹中非常一致。心肌病、磁共振成像、肥厚型心肌病、线粒体、遗传性心肌病、左心室肥厚、心血管磁共振成像、钆延迟强化 © RSNA，2023年
