Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy

João Matos; Emmi Helle; Melanie Care; Yasbanoo Moayedi; Michael H Gollob; Paaladinesh Thavendiranathan; Danna Spears; Kate Hanneman

doi:10.1148/ryct.230155

Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy

Radiol Cardiothorac Imaging. 2023 Dec;5(6):e230155. doi: 10.1148/ryct.230155.

Authors

João Matos¹, Emmi Helle¹, Melanie Care¹, Yasbanoo Moayedi¹, Michael H Gollob¹, Paaladinesh Thavendiranathan¹, Danna Spears¹, Kate Hanneman¹

Affiliation

¹ 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.).

Abstract

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.

Keywords: Arrhythmogenic Cardiomyopathy; Arrhythmogenic Right Ventricular Cardiomyopathy; Cardiac MRI; Genetic Variants; TMEM43.

MeSH terms

Adolescent
Adult
Arrhythmogenic Right Ventricular Dysplasia* / diagnostic imaging
Cardiomyopathies* / diagnostic imaging
Contrast Media
Female
Gadolinium
Humans
Magnetic Resonance Imaging
Male
Membrane Proteins / genetics
Middle Aged
Ventricular Dysfunction, Left*
Young Adult

Substances

Contrast Media
Gadolinium
Membrane Proteins
TMEM43 protein, human