Living with arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L disease-causing variant in TMEM43: symptoms of anxiety, depression, and posttraumatic stress in non-carrier first-degree relatives of patients with an ICD

Butt, Natalie (2020) Living with arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L disease-causing variant in TMEM43: symptoms of anxiety, depression, and posttraumatic stress in non-carrier first-degree relatives of patients with an ICD. Masters thesis, Memorial University of Newfoundland.

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Abstract

This pilot study investigated the mental health impact of implantable cardioverter defibrillator (ICD) therapy on families in Newfoundland and Labrador that are affected by arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in transmembrane protein 43 (TMEM43). The sample for this study was individuals born at an a priori 50% risk of having the TMEM43 mutation but tested negative and had a first-degree relative with an ICD. A total of 25 participants completed three psychometric scales that assessed symptoms of depression, anxiety, and post-traumatic stress disorder (PTSD). Our sample scored significantly lower on depression, anxiety, and PTSD than ICD patients but significantly higher on anxiety than the general population. A significant relationship was observed between symptoms of anxiety and the duration of time since their relative had an ICD implanted. As the time since implant increased, anxiety significantly decreased. These preliminary findings suggest that testing negative for the TMEM43 mutation raises anxiety above general population norms; however, within the family context, they have fewer potential mental health sequalea. Studies of this kind can inform healthcare professionals and health system decision makers regarding the provision of mental health services to high risk individuals and their families.

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