Living with a genetic subtype of ARVC caused by a p.S358L disease causing variant in TMEM43: Symptoms of anxiety, depression, and post-traumatic stress in partners of those who tested positive and have an ICD as treatment

Walsh, Mary (2021) Living with a genetic subtype of ARVC caused by a p.S358L disease causing variant in TMEM43: Symptoms of anxiety, depression, and post-traumatic stress in partners of those who tested positive and have an ICD as treatment. Masters thesis, Memorial University of Newfoundland.

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Abstract

Background: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) caused by a TMEM43 p.S358l variant is a particularly lethal subset of the disease found in high incidence in Newfoundland and Labrador (NL). Implantable Cardioverter Defibrillator (ICD) treatment has been found to be lifesaving in this population, however ICD treatment is not without side effects which can include mental health concerns. Partners of patients with a disease, while genetically unaffected, have the potential to be impacted by the disease. Qualitative data and anecdotal knowledge within the ARVC research team indicated that there may be serious mental health concerns in all TMEM43 family members including partners, negative relatives not just the ICD patients themselves. This study aimed to quantitatively study the prevalence of anxiety, depression, and post-traumatic stress (PTSD) symptoms in the partners of ICD patients. Methods: Partners of ICD patients as treatment for ARVC caused by a TMEM43 p.S358l variant were recruited. Participants completed the Zung Self Rating Anxiety Scale (SAS), Patient Health Questionnaire-9 (PHQ-9), and the PTSD Checklist for Civilians (PCL-C). Prevalences of anxiety, depression, and PTSD symptoms were described in the partners and compared with scores of ICD patients, negative relatives and the general population. Associations between partners scores and demographic and clinical data was also analyzed. Results: Twenty-six partners participated that ranged in age from 19-69 and 54% were female. Clinically significant scores for anxiety, depression, and PTSD were found in 25%, 12%, and 65% of partners respectively. Scale score were significantly related to one another(p=0.001-p=0.016). Partners PCL-C scores were significantly positively associated with their partner with the ICD’s PCL-C score(r(24)=0.593, p=0.002), number of appropriate shocks experienced by their partner with the ICD(rS(24)=0.564, p=0.005), and if the partner with the ICD went on to have a heart transplant(t(24)=3.497,p=0.002). Partners were found to have significantly higher(p=0.037) scores for PCL-C than negative relatives. Compared to the general population partners had significantly higher rates of anxiety(p<0.001) and PTSD(p<0.001). Conclusion: The partners of ICD patients as treatment for ARVC caused by a TMEM43 p.S358l variant are experiencing significant mental health sequale. Additional mental health supports within this population are needed. Further research to better understand these symptoms and the risk factors could better inform health care.

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