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Effect of Variants of Uncertain Significance on Anxiety and Depression in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy and their Family Members


Several studies have shown that receiving a variant of uncertain significance (VUS) result from genetic testing can invoke confusion or anxiety. This has been explored by studies in the setting of cancer genetics, but not in the setting of genetic testing for inherited cardiomyopathies. This study compared levels of cardiac anxiety, general anxiety, and depression in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) with a pathogenic, negative, or VUS result from genetic testing, as well patients and family members who did not undergo genetic testing. These individuals are enrolled in the ARVC Research Registry at the Johns Hopkins ARVC Program. There was no significant difference in cardiac anxiety between probands with pathogenic, negative and VUS results (p=0.985). Individuals who have not undergone genetic testing had significantly less cardiac anxiety than individuals who have undergone genetic testing, in any result category (p<0.001), but this was likely due to these individuals' status as clinically unaffected family members without implantable cardioverter defibrillators (ICDs). Time elapsed between when an individual received their genetic testing result and when they completed the questionnaire did not have a significant impact on cardiac anxiety (p=0.702), general anxiety (p=0.393) or depression (p=0.683). Overall, genetic test results did not appear to be a major driver for cardiac anxiety, anxiety or depression in this population of ARVC patients and their family members when controlling for other factors such as having an ICD.

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