Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis

Circ Genom Precis Med. 2021 Feb;14(1):e003138. doi: 10.1161/CIRCGEN.120.003138. Epub 2020 Dec 4.

Timothy F Spracklen¹, Paul R Kasher², Sarah Kraus^{1

3}, Tarryn L Botha⁴, Donna J Page^{5

6}, Stephen Kamuli, Zandile Booi¹, Ashley Chin³, Nakita Laing⁷, Bernard D Keavney^{5

8}, Ntobeko A B Ntusi^{1

3

9}, Gasnat Shaboodien¹

¹ Cardiovascular Genetics Laboratory, Department of Medicine, Hatter Institute for Cardiovascular Research in Africa, University of Cape Town, South Africa (T.F.S., S.K., Z.B., N.A.B.N., G.S.).
² Division of Neuroscience and Experimental Psychology, School of Biological Sciences, University of Manchester, United Kingdom (P.R.K.).
³ Division of Cardiology, Department of Medicine, Faculty of Health Sciences, Groote Schuur Hospital, South Africa (S.K., A.C., N.A.B.N.).
⁴ Water Research Group, Unit for Environmental Sciences and Management, North-West University, Potchefstroom, South Africa (T.L.B.).
⁵ Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, United Kingdom (D.J.P., B.D.K.).
⁶ Department of Life Sciences, Faculty of Science and Engineering, Manchester Metropolitan University, United Kingdom (D.J.P.).
⁷ Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, Groote Schuur Hospital, South Africa (N.L.).
⁸ Manchester University NHS Foundation Trust, United Kingdom (B.D.K.).
⁹ Cape Universities Body Imaging Centre, Faculty of Health Sciences, University of Cape Town, South Africa (N.A.B.N.).

No abstract available

Keywords: South Africa; arrhythmogenic right ventricular dysplasia; autopsy; heart failure; myocarditis.

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