Related Experiment Video
Updated: Jul 6, 2025
Cardiac Magnetic Resonance for the Evaluation of Suspected Cardiac Thrombus: Conventional and Emerging Techniques
Published on: June 11, 2019
Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy
João Matos1, Emmi Helle1, Melanie Care1
1From 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.).
None:
Arrhythmogenic cardiomyopathy is an inherited cardiomyopathy that can involve both ventricles. Several genes have been identified as pathogenic in arrhythmogenic cardiomyopathy, including TMEM43. However, there are limited data on cardiac MRI findings in patients with TMEM43 variants to date. In this case series, cardiac MRI findings and clinical outcomes are described in 14 patients with TMEM43 variants, including eight (57%) with the pathogenic p.Ser358Leu variant (six female patients; mean age, 33 years ± 15 [SD]) and six (43%) with a TMEM43 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, TMEM43 variants are associated with high prevalence of subepicardial late gadolinium enhancement and left ventricular dysfunction. Keywords: Arrhythmogenic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, TMEM43, Cardiac MRI, Genetic Variants Supplemental material is available for this article.
More Related Videos
12:24Noninvasive Assessment of Cardiac Abnormalities in Experimental Autoimmune Myocarditis by Magnetic Resonance Microscopy Imaging in the Mouse
Published on: June 20, 2014
12:15Tissue Preparation Techniques for Contrast-Enhanced Micro Computed Tomography Imaging of Large Mammalian Cardiac Models with Chronic Disease
Published on: February 8, 2022
