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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.).
Insights
TMEM43 gene variants are linked to arrhythmogenic cardiomyopathy. Cardiac MRI reveals frequent left ventricular dysfunction and subepicardial enhancement in affected individuals.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease affecting primarily the ventricles.
- The TMEM43 gene is implicated in ACM, but detailed cardiac imaging findings are scarce.
- Understanding TMEM43-related ACM is crucial for diagnosis and management.
Purpose of the Study:
- To describe cardiac magnetic resonance imaging (CMR) findings in patients with TMEM43 variants.
- To correlate genetic variants with cardiac structure and function.
- To report clinical outcomes in this patient cohort.
Main Methods:
- A case series of 14 patients with TMEM43 variants.
- Analysis of cardiac MRI data, including cine imaging and late gadolinium enhancement (LGE).
- Clinical outcome assessment.
Main Results:
- Left ventricular (LV) systolic dysfunction was observed in 57% of patients.
- Right ventricular (RV) dysfunction was present in 29% of patients.
- Subepicardial LV LGE was found in 78% of patients who underwent LGE imaging.
Conclusions:
- TMEM43 variants are associated with a high prevalence of LV dysfunction.
- Subepicardial LGE on cardiac MRI is a common finding in TMEM43-related ACM.
- These findings aid in characterizing TMEM43-associated cardiomyopathies.
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.
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