We describe high rates of significant psychological distress in our population of patients attending for family heart screening evaluation, with 19.2% of patients showing significant distress on their HADS scale. This distress was primarily related to high measures of anxiety. Younger persons also had high rates of significant HADS scores, with 18.2% of persons aged under 25 having significant distress on their HADS scale. However, HADS items relating to depression were more commonly endorsed in the older groups. We identified a number of parameters as significant predictors of greater distress at family screening evaluation. Patients who had lower levels of education, and who were not married, were more likely to have a significant HADS score, and there was a trend towards greater distress in female patients. Patients who were more closely related to the family proband were also at greater risk of a higher anxiety and depression score.
In our analysis, the particular screening indication (SADS vs channelopathy vs cardiomyopathy) was not associated with a difference in the health related quality of life (QoL) or psychological stress measures. This contrasts with another study, which noted poorer scores in the mental and physical health domains in patients attending for genetic screening for HCM, compared with those attending for genetic screening for arrhythmia or LQTS
. However this difference may be due to differences in the screening populations: our population were attending because of a family history and were mostly asymptomatic, whereas the other study population had a greater prevalence of both clinical HCM and symptoms. Female patients had a greater risk of a higher HAD score in our analysis, and a higher risk of heart-focused anxiety in women has been noted elsewhere also
. Girls who have been bereaved of a sibling are more at risk of higher grief and trauma scores than boys
It is notable that a family history of SCD was not associated with higher HADS scores in our analysis. This is in keeping with the study by Christiaans and colleagues
, where perceived risk of SCD was associated with psychological distress, but a family history of SCD was not. Conversely, another study has shown that using a different measure of distress, heart-focused levels of anxiety are higher in screening patients who have lost a close relative to sudden death
. We did not have data on the recency of the family bereavement (if any), and this may affect the level of distress encountered. However, being more closely related to the family index case or proband (whether alive or dead) was a positive associate of increased psychological distress in our analysis. Although it might be thought that SADS deaths might be most traumatic
, there is no evidence that different causes of bereavement have different effects on grief and trauma reactions in young people
. We speculate that a closer relationship may mean that the patient had a better understanding of the event or illness which affected that person, and may attribute more importance to their screening evaluation. Such proximity may also mean that these patients might have been more directly affected by the proband’s illness or sudden death. These details may be teased out using a qualitative “family narrative” approach (personal communication, McGuinness S. Lived Lives lost to Suicide: A Visual Art Autopsy Study of Suicide in Ireland. PhD Thesis, UCD / NUI. December 2010).
There have been a number of investigations into the psychological well-being of patients with established cardiac diseases attending for cardio-genetic counselling
[16, 17, 25, 27, 28] and/or specialist disease-related clinic services
[14, 29, 30]. Studies have examined HADS findings in patients with conditions such as HCM
[25, 31] and DCM
. In these studies, both the HADS-A and HADS-D measures were higher than those seen in our screening group. In comparison, it has been shown that patients with a HCM genotype but with no clinical findings had better QoL measures that the general public, and were also less distressed than those gene carriers with structural cardiac changes
. However, these populations differ from the population described in this study, who were not known to have a cardiac condition at the time of their psychological testing. Attending for screening for potentially inheritable cardiac diseases has been shown to be associated with psychological stress. Hendricks et al. (2005) showed that parents of children undergoing genetic testing for LQTS have high levels of psychological distress at the time of testing, although levels of distress decrease gradually with time
. However the context of screening is important, with screening in the setting of no particular family history of cardiac diseases potentially less stressful. In one study, elite sportsmen screening was not associated with high levels of distress, with only 3% indicating significant stress on an Impact of Event Scale
. Furthermore, the potential personal impact of the screened condition may be relevant. In a group of patients attending for familial hypercholesterolaemia screening, with little change in QoL testing results either over time or between participants who had a positive (i.e. abnormal) finding versus those who did not carry the FH gene
A new finding in our analysis was that variation in measures of psychological well-being was greater between families than within families. This is an important finding for clinicians involved in such screening evaluations. It may be that some families may be inherently predisposed to greater levels of anxiety and depression, or that the family diagnosis of SCD may be having a common effect on family members in certain families. In families with a bereavement, a complicated grief reaction in a number of family members is a predictor of clinical depression in the bereaved child or adolescent
. Should significant anxiety or depression be present in one family member, consideration should be given to assessing psychological well being in other members of that family also.
Our study presents data on a novel group of patients, with a high response rate. The two psychometric tests used showed good internal consistency and appropriate interscale correlation, and have been used in similar populations in the past, with the HADS score being previously validated in a HCM population
. Because of the established screening utility of the HADS, we used this measure as our outcome variable in the regression analyses. Dichotomising the outcome variable reduced the regression model information, but allowed us present odds ratios in a clinically useful way. The study was limited by a lack of contemporary comparator data, and the fact that the health-related QoL data were collected on one occasion only, with no follow up data available at this time. For the majority of patients, this was their first clinic visit, and they had not yet received patient education or genetic counselling or testing. Neither do we report on psychological status of patients attending after cascade genetic screening, as this population of patients is very small in Ireland at this time. Patients in Ireland typically access clinical cardiac screening in the first instance. We did not have complete information on variables such as time between the family SCD (for those families in which a SCD had occured) and the screening visit, nor did we have information on who had discovered the deceased person. As very small numbers of patients were on any medical therapy (such as beta blockers), no conclusions could be drawn as to the putative effects of same on psychological wellbeing.
These findings have clear implications for cardiac family-based screening practice. Clinicans should be aware of the potential for significant psychological distress in screening patients, and not alone in those with a family history of a SCD or SADS bereavement. Closer attention should be afforded families where one member has elevated anxiety, as it is more likely that elevated anxiety will be present in other family members. From our clinical observation, we believe that patients’ understanding and interpretation of family risk may be quite different to that of clinicians, and clinicians should take this variability into account when conducting screening evaluations. Assessing patient knowledge, and confronting specific concerns through patient education, is important for this vulnerable group.There is an established rationale for a multidisciplinary approach to high-risk cardiac screening, with inputs from multiple health care stakeholders, and the role of the specialist cardiac screening nurse and the cardiac genetic counsellor has been endorsed by other authorities
[1, 2, 16].