“Sudden Death-Genetic Risk”: Living with the risk of serious arrhythmias and sudden cardiac death -A prospective multicenter-study on patient-reported outcomes in individuals with familial Long QT syndrome and Hypertrophic cardiomyopathy who received genetic investigation and counseling in Norway, 2005-2007.
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Background: Patients with a clinical diagnosis or a family history of the two distinct entities Long QT syndrome (LQTS) and Hypertrophic cardiomyopathy (HCM) have a higher genetically based risk of serious arrhythmias and sudden cardiac death (SCD) than the general population. Living with this health threat may affect health status and cause anxiety. The scientific development in the field of genetics has made it possible to offer these patients genetic investigation. However, in what way, this health threat affects the patients receiving genetic investigation and counseling is unknown. Patient- reported outcome measures may provide better understanding of these individuals’ situation, which is essential for the further development of improving quality of care in cardio-genetic counseling.
Aims: The overall aim of this study was therefore to obtain more knowledge about the health status, levels of general anxiety and depression, and symptoms of heartfocused anxiety in individuals receiving genetic investigation and counseling because of familial LQTS or familial HCM. The specific aims were; I) To investigate health status; in comparison to expected scores of Norwegian general population, and in relation to socio-demographic variables and clinical status; II) To investigate general anxiety, depression, and physical health, in comparison to expected scores of Norwegian general population or norm scores, in patients with familial LQTS as compared to patients with familial HCM, and in relation to the role of three distinct symptoms of heart-focused anxiety (avoidance, attention, and fear); and III) To explore if factors such as a family history of sudden cardiac death, patient knowing whether other relatives’ previously had undergone genetic testing, perceived general health, self-efficacy expectations, and satisfaction with genetic counseling (affective, instrumental, procedural) predict heart-focused anxiety up to one year after the genetic counseling.
Methods: In a prospective multi-site study at three university hospitals in Norway during 2005-2007, all patients referred for medical genetic investigation and counseling because of familial LQTS or familial HCM, over 17 years of age, and not previously genetically tested, were eligible to participate. Patients referred were family members and other appropriate relatives subsequently following the identification of a LQTS or HCM- causative mutation in an index case or individuals in whom a cardiologist had established or suspected a clinical diagnosis of LQTS or HCM. Among 175 patients asked, 127 (126) patients completed a questionnaire before the counseling session, and were asked to fill in questionnaires at several time points after the counseling session (right after, 4 weeks, 6 months, and 1 year after). The patient-reported outcomes were based on The SF-36 Health Survey, Hospital Anxiety and Depression Scale, Cardiac Anxiety Questionnaire, Bergen Genetic Counseling Self-efficacy Scale, Satisfaction with Genetic counseling, sociodemographic and clinical variables. Descriptive, comparative and prospective analyses were performed. Expected scores of Norwegian general population were calculated for health status, general anxiety and depression, for baseline comparisons. Multiple linear analyses were used to evaluate the relationship of socio-demographic, clinical variables and health status. Hierarchical regression analyses were used to assess the ability of three distinct symptoms of heart-focused anxiety (avoidance, attention, and fear) to predict levels of general anxiety, depression, and physical health. Mixed linear modelling (MLM) was used to investigate predictors and changes over time of the subscales of Cardiac Anxiety Questionnaire (CAQ); avoidance, attention, and fear. All predictors were entered into MLMs to assess both their main effects and their possible interaction with time.
Results: I) Among the 127 study participants, 88 patients (69.3 %) were referred for familial LQTS, whereas 39 patients (30.7 %) were referred for familial HCM. Ninety-five patients (74.8 %) were family members and other appropriate relatives at genetic risk of LQTS or HCM, whereas individuals in whom a cardiologist had established a clinical diagnosis, 12 patients (9.4 %) were affected with LQTS and 20 patients (15.7 %) were affected with HCM. Fifty-seven patients (44.9%) reported to have experienced a sudden cardiac death in a family member. Overall, patients reported significant poorer general health as compared to expected scores of the general population. Better health status scores were related to patients’ employment, higher education level, and referral to genetic counseling by a relative. Patients with a clinical diagnosis of HCM had markedly reduced health status as of compared to the general population, as compared to the patients at genetic risk of LQTS or HCM, and also compared to patients with a clinical diagnosis of LQTS. II) Overall, the patients reported significant higher levels of general anxiety as compared to expected scores. Patients at genetic risk for LQTS or HCM scored better on physical health as compared to expected scores, whereas the patients with a clinical diagnosis of LQTS or HCM showed poorer physical health as compared to expected scores. Compared to the patients that were referred for familial LQTS, patients referred for familial HCM had poorer physical health and higher scores of heart-focused anxiety. Two distinct symptoms of heart-focused anxiety (avoidance and fear) were independently related to levels of general anxiety and depression, as well as to physical health (beyond the effect of gender, age, clinical diagnosis, and family history with a recent sudden cardiac death. III) A family history of sudden cardiac death in close relatives, uncertainty whether other relatives had genetic testing, poorer perceived health, low self-efficacy expectations before genetic counseling, and low procedural satisfaction immediately after the genetic counseling predicted higher levels of heart-focused anxiety up to one year after the counseling session (beyond the effect of questionnaire time points, age, gender, clinical diagnosis, and genetic test result). A mutation positive result predicted higher scores of cardio-protective avoidance 6 months after genetic counseling.
Conclusions: Patients living with the health threat of serious arrhythmias and sudden cardiac death because of familial LQTS or familial HCM perceive their health to be poorer and have a higher general anxiety level compared to expected scores in the general population, before receiving genetic counseling. Distinct symptoms of heartfocused anxiety such as the extent to which these individuals report cardio-protective avoidance and fear about heart sensations seem to influence their reporting of general anxiety, depression, and physical health. Predisposed individuals for heart-focused anxiety were patients who had experienced a close relative’s sudden cardiac death and patients uncertain whether other relatives previously had undergone genetic testing. However, satisfaction with the procedural parts of genetic counseling was predictive of decreased levels of heart-focused anxiety. The resources of greatest prognostic importance to prevent heart-focused anxiety may be the way individuals perceive their general health and their self-efficacy expectations. The present findings indicate that individuals undergoing genetic investigation and counseling for familial LQTS or familial HCM are vulnerable in both health-related and psychological domains before genetic counseling, and may benefit from a closer collaboration between the genetic counselor and the cardiologist addressing their experience of cardiac symptoms to a greater extent.