Living with a genetic form of arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death: symptoms of depression, anxiety and post-traumatic stress in transmembrane protein 43 p.S358L mutation positive family members with an ICD

Orzylowski, Magdalena (2020) Living with a genetic form of arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death: symptoms of depression, anxiety and post-traumatic stress in transmembrane protein 43 p.S358L mutation positive family members with an ICD. Masters thesis, Memorial University of Newfoundland.

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Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a p.S358L mutation in TMEM43 has a high incidence in Newfoundland and Labrador (NL), with sudden cardiac death (SCD) often the first symptom. Implantable cardioverter defibrillators (ICDs) are effective at preventing SCD. Mental health effects have not been studied in this population. This study sought to identify symptoms of depression, anxiety, and posttraumatic stress in those with TMEM43 p.S358L ARVC and an ICD. TMEM43 p.S358L positive individuals with an ICD were recruited. Participants completed the Patient Health Questionnaire-9 (PHQ-9), Zung self-rating anxiety scale (SAS), and the posttraumatic checklist-civilian version (PCL-C). Prevalences of depression, anxiety and posttraumatic stress symptoms were described and compared with scores in unaffected family members and general population norms. Fifty-three ICD patients completed the questionnaires. Univariate linear analysis revealed that the three scales were significantly positively related to each other (Pearson’s r > 0.6). Anxiety was related to number of appropriate ICD discharges (B=0.355, p=0.022) and the PCL-C scale was significantly related to age (B=-.322, p=0.019). Multivariate regression models predicting each scale score revealed that only the three scales contributed to the variance, excepting age, which remained significant in the model predicting posttraumatic stress scale scores (B=-.215, p=0.015). A significant percentage of participants scored above the clinical cutoff levels for depression (28.3%), anxiety (49%) and posttraumatic stress (32%). Scoring high on one mental health scale (PHQ-9, SAS, or PCL-C) was strongly associated with scoring high on the subsequent scales. Findings can inform the provision of mental health services to these patients.

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