Physical activity as a risk factor for arrhythmogenic right ventricular cardiomyopathy caused by a pS358L mutation in TMEM43 in Newfoundland, Canada

MacLaughlin, Sarah (2018) Physical activity as a risk factor for arrhythmogenic right ventricular cardiomyopathy caused by a pS358L mutation in TMEM43 in Newfoundland, Canada. Masters thesis, Memorial University of Newfoundland.

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Abstract

The many benefits of regular physical activity (PA) have been well documented in the literature. PA has been shown to improve cardiovascular health and reduce the risk of cardiovascular disease. However, much less is known about the serious and sometimes fatal effects PA can have in individuals with certain rare cardiovascular diseases, such as arrhythmogenic right ventricular cardiomyopathy (ARVC). This cross sectional study sought to examine the association between PA and the onset and progression of ARVC caused by a p.S358L mutation in TMEM43. The sample consisted of 82 patients in who were diagnosed with ARVC caused by a p.S358L mutation in TMEM43 and had received an implantable cardioverter defibrillator (ICD) as primary prophylactic (PP) treatment. Survival analyses were done on several clinical cardiac symptoms, cardiac test abnormalities, and demographic variables from prior to ICD implant using the Kaplan-Meier product limit method to determine their association with time to appropriate firing of the ICD. Relative risk (RR) was calculated using the Cox regression model. Having an abnormal 24 hour Holter monitor test result prior to receiving the ICD and reporting high levels of moderate to vigorous PA were found to be associated with appropriate discharge of the ICD with RR’s of 4.1 (CI 1.2-13.7) and 12.8 (CI 3.7-45.2) respectively. A multivariate Cox regression model showed high levels of moderate to vigorous PA and having an abnormal 24 hour Holter monitor result prior to ICD implant to be strongly associated with appropriate firing of the ICD with RR’s of 28.1 (CI 6.9-114.2) and 16.4 (CI 3.8-71.5). These results suggest that high levels of moderate to vigorous PA could play an important role in the phenotypic expression of ARVC caused by a p.S358L mutation in TMEM43.

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