心律失常性心肌病的心脏 MRI 与临床结局。
Cardiac MRI and Clinical Outcomes in Arrhythmogenic Cardiomyopathy.
机构信息
From the Department of Medical Imaging (J.M., P.T., K.H.) and Division of Cardiology (E.H., M.C., Y.M., M.H.G., P.T., D.S.), Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network (UHN), University of Toronto, 585 University Ave, 1 PMB-298, Toronto, ON, Canada M5G 2N2; Department of Paediatrics, Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Toronto, Canada (E.H.); Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland (E.H.); Department of Molecular Genetics, University of Toronto, Toronto, Canada (M.C.); and Toronto General Hospital Research Institute, University Health Network (UHN), University of Toronto, Toronto, Canada (M.H.G., P.T., K.H.).
出版信息
Radiol Cardiothorac Imaging. 2023 Dec;5(6):e230155. doi: 10.1148/ryct.230155.
Arrhythmogenic cardiomyopathy is an inherited cardiomyopathy that can involve both ventricles. Several genes have been identified as pathogenic in arrhythmogenic cardiomyopathy, including . However, there are limited data on cardiac MRI findings in patients with variants to date. In this case series, cardiac MRI findings and clinical outcomes are described in 14 patients with variants, including eight (57%) with the pathogenic p.Ser358Leu variant (six female patients; mean age, 33 years ± 15 [SD]) and six (43%) with a variant of unknown significance (three female patients; mean age, 38 years ± 11). MRI findings demonstrated left ventricular systolic dysfunction in eight (57%) patients and right ventricular dysfunction in four (29%) patients. Among the nine patients with late gadolinium enhancement imaging, left ventricular late gadolinium enhancement was present in seven (78%; all subepicardial) patients. In summary, variants are associated with high prevalence of subepicardial late gadolinium enhancement and left ventricular dysfunction. Arrhythmogenic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, , Cardiac MRI, Genetic Variants .
致心律失常性右室心肌病是一种遗传性心肌病，可累及两个心室。已经确定了几种致心律失常性心肌病的致病性基因，包括 。然而，迄今为止，关于携带 变异患者的心脏 MRI 发现的数据有限。在本病例系列中，描述了 14 例携带 变异患者的心脏 MRI 发现和临床转归，包括 8 例（57%）携带致病性 p.Ser358Leu 变异（6 例为女性患者；平均年龄 33 岁±15[标准差]）和 6 例携带意义不明的 变异（3 例为女性患者；平均年龄 38 岁±11）。MRI 检查结果显示 8 例（57%）患者存在左心室收缩功能障碍，4 例（29%）患者存在右心室功能障碍。在 9 例进行钆延迟增强成像的患者中，7 例（78%；均为心外膜下）患者存在左心室钆延迟增强。总之，携带 变异与高发的心外膜下钆延迟增强和左心室功能障碍相关。致心律失常性心肌病，致心律失常性右室心肌病， ，心脏 MRI，基因变异。
Zotero 插件