Identifying individuals at risk for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) caused by TMEM43 p. S358L: a genetics educational tool for primary care physicians

Rickert, Lauren (2020) Identifying individuals at risk for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) caused by TMEM43 p. S358L: a genetics educational tool for primary care physicians. Masters thesis, Memorial University of Newfoundland.

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Abstract

Introduction: Newfoundland and Labrador (NL) has an increased incidence of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is caused by a p.S358L mutation in TMEM43, the first symptom of which may be sudden cardiac death (SCD). When diagnosed and treated, mortality is significantly reduced. Primary care physicians (PCPs) are often the first point of health system contact for families affected by ARVC. PCPs acknowledge the importance of integrating genetics into their practice, but report uncertainty regarding appropriate counseling and referral strategies. Web-based tools can be effective education methods. This project aimed to create a tool designed to increase the likelihood of appropriate management and referral of persons at risk of ARVC caused by p.S358L in TMEM43. Methods: We used a multiple methods, iterative approach to develop an educational tool. This included initial creation, a working lunch with five PCPs, subsequent revision of the tool, use of pre-existing TMEM43 data providing additional family information and then further revision. It was distributed to a cohort of PCPs and Family Medicine Residents (n= 780) for feedback via an online survey containing nine Likert-scale questions, two qualitative questions and five demographic questions. Results: Initial feedback requested greater clarity on whom to refer to appropriate genetic and cardiac services. Pedigree information showed that 56%, 39%, and 31% of affected persons had at least one first-, second-, or third degree relative with a known history of severe cardiac problems at time of their initial presentation. This information was then integrated into the updated version of the tool, to ensure PCPs are prompted to ask about patients family history, including first-, second-, and third-degree relatives. Opinion on the final tool was provided by 43 online surveys completed by PCPs in NL. Overwhelmingly positive responses were noted. Discussion: Feedback from PCPs and multi-generational, historic pedigree information was used to create an educational tool for PCPs which may more easily identify those at risk for ARVC caused by the p. S358L mutation in TMEM43. Future research will evaluate the tool in practice.

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