How Patient Perceptions Shape Responses and Outcomes in Inherited Cardiac Conditions

Abstract

At least one-third of adults living with an inherited cardiac condition report clinically-significant levels of psychological distress. Poorer health-related quality of life compared with population norms is also consistently reported. These outcomes are associated with younger patient age, having an implantable cardioverter defibrillator, and receipt of uncertain clinical test results, and can influence self-management behaviours, such as adherence to potentially critical life-preserving medications. According to the Common Sense Model of Illness, people use information from multiple sources to 'make sense' of their health condition, and how they conceptualise the condition can strongly influence adaptation and coping responses. Previous studies with people with inherited cardiac conditions show that illness perceptions, such as greater perceived consequences and a poorer understanding of the condition, are associated with greater psychological distress and poorer adherence to medication. The Common Sense Model provides one potential framework for identifying patients who may be more vulnerable to adverse health outcomes, and for developing early interventions to reduce the physical and psychosocial burden of these conditions. Interventions based on the Common Sense Model have successfully improved physical and psychosocial outcomes associated with other cardiac conditions, and could be tailored for use with patients with an inherited cardiac condition (ICC).

Full text

Heart, Lung and Circulation (2020) 29, 641–652
1443-9506/19/$36.00
https://doi.org/10.1016/j.hlc.2019.11.003
REVIEW
How Patient Perceptions Shape Responses
and Outcomes in Inherited Cardiac
Conditions
Claire O’Donovan, MSc
a
, Jodie Ingles, PhD
b,c,d
,
Elizabeth Broadbent, PhD
a
, Jonathan R. Skinner, MD, FHRS
e,f,
*,
Nadine A. Kasparian, PhD
g,h,i
a
Department of Psychological Medicine, The University of Auckland, Auckland, New Zealand
b
Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia
c
Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia
d
Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
e
Green Lane Paediatric and Congenital Cardiac Services, Starship Children’s Hospital, Auckland, New Zealand
f
Department of Paediatrics Child and Youth Health, The University of Auckland, Auckland, New Zealand
g
Discipline of Paediatrics, School of Women’s and Children’s Health, UNSW Medicine, The University of New South Wales, Sydney, NSW,
Australia
h
Department of Cardiology, Boston Children’s Hospital, Boston, MA, USA
i
Harvard Medical School, Boston, MA, USA
Received 4 August 2019; received in revised form 4 November 2019; accepted 7 November 2019; online published-ahead-of-print 18 December 2019
At least one-third of adults living with an inherited cardiac condition report clinically-significant levels of
psychological distress. Poorer health-related quality of life compared with population norms is also consis-
tently reported. These outcomes are associated with younger patient age, having an implantable cardioverter
defibrillator, and receipt of uncertain clinical test results, and can influence self-management behaviours, such
as adherence to potentially critical life-preserving medications. According to the Common Sense Model of
Illness, people use information from multiple sources to ‘make sense’of their health condition, and how they
conceptualise the condition can strongly influence adaptation and coping responses. Previous studies with
people with inherited cardiac conditions show that illness perceptions, such as greater perceived conse-
quences and a poorer understanding of the condition, are associated with greater psychological distress and
poorer adherence to medication. The Common Sense Model provides one potential framework for identifying
patients who may be more vulnerable to adverse health outcomes, and for developing early interventions to
reduce the physical and psychosocial burden of these conditions. Interventions based on the Common Sense
Model have successfully improved physical and psychosocial outcomes associated with other cardiac con-
ditions, and could be tailored for use with patients with an inherited cardiac condition (ICC).
Keywords Inherited cardiac conditions Anxiety Depression Health-related quality of life Illness perceptions
Common Sense Model of Illness
Introduction
In many countries, including Australia and New Zealand [1],
there has been a concerted effort over the past 20 years to
detect and subsequently manage patients with inherited
cardiac conditions, such as hypertrophic cardiomyopathy
(HCM), Long QT Syndrome (LQTS) and arrhythmogenic
right ventricular cardiomyopathy (ARVC). While attention
has focussed on reducing patient morbidity and mortality
[2], few studies have investigated the psychological and
*Corresponding author at: Green Lane Paediatric and Congenital Cardiac Services, Starship Children’s Hospital, Private Bag 92024, Auckland 1142, New Zealand.
Tel.: 164 9 3074949; fax: 164 9 6310785; Email: jskinner@adhb.govt.nz
Ó2019 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ).
Published by Elsevier B.V. All rights reserved.

social implications of living with these conditions. Here we
explore the ways in which adults with an inherited cardiac
condition ‘make sense’of their condition, and how this may
influence physical and psychosocial outcomes. We discuss a
framework called the Common Sense Model of Illness, which
could be used to inform the development of interventions to
reduce the psychosocial burden associated with inherited
cardiac conditions.
According to the Common Sense Model of Illness [3], pa-
tients’perceptions of their illness, (i.e. how they ‘make sense’
of their health condition), can influence coping behaviours,
such as avoidance or engagement with clinical management.
This, in turn, is associated with illness outcomes, including
psychological well-being, health-related quality of life,
and key disease markers, such as low-density lipoprotein
cholesterol control in patients with hypercholesterolaemia
[4]. We propose this framework as one way for clinicians and
researchers to explore patients’perceptions and experiences
of their condition, and as a potential model for better un-
derstanding how we can influence longer-term health and
well-being after diagnosis of an inherited cardiac condition.
We will focus on evidence relating to adult patients only,
given the known and complex influence of developmental
stage and parental illness perceptions on the ways in which
children conceptualise illness [5,6]. There is evidence that
children with an inherited cardiac condition (ICC) report
poorer health-related quality of life than healthy peers [7],
and the emotional adjustment of children with congenital
heart disease has been found to be influenced by maternal
perceptions of the illness [8,9]. Thus, an in-depth review of
illness perceptions in paediatric populations with an inheri-
ted cardiac condition would be a valuable addition to the
literature.
Psychological Distress During
Initial Investigations for Inherited
Cardiac Conditions
During initial clinical and genetic investigations, many peo-
ple will experience acute distress [10]. The intensity and
duration of this distress can vary, at least in part, due to the
circumstances that led to the cardiac investigation [10,11].
For example, patients referred following an incidental
finding during a routine medical exam may experience lower
distress than those referred after the sudden death of an
immediate family member [12]. Irrespective of the reason
for referral, however, it is not uncommon for individuals
attending a genetic cardiac clinic to experience confusion,
worry, fear, frustration and grief.
Generally, when family members are asymptomatic and
are found not to carry the family at-risk gene, this acute
distress response dissipates relatively quickly after receipt
of test results and few long-term psychological conse-
quences have been reported in the literature [10,13]. This
may not be the case for asymptomatic non-carriers who
have lost an immediate family member to sudden cardiac
death, many of whom experience ongoing grief and psy-
chological distress [14]. Outcome data for asymptomatic
gene positive relatives typically indicate relatively low
levels of psychological distress; however, comparisons be-
tween studies is difficult due to variation in cardiac pop-
ulations, and in the timing and methods by which
psychological outcomes are measured. Asymptomatic rel-
atives at-risk of HCM report elevated worry and disease-
related distress during follow-up appointments [15], and
disease-related distress has been found to remain high for
over 12 months when clinical test results are uncertain [10].
This distress is understandable given the possibility
they may develop the condition in the future, and will
be reminded of this by the need for continued clinical
follow-up.
Anxiety, Depression and Health-
Related Quality of Life in People
Living With an Inherited Cardiac
Condition
For symptomatic adults living with an inherited cardiac
condition, various psychosocial outcomes have been re-
ported (Table 1). Overall, more than one-third of patients
report levels of psychological distress indicative of a need for
clinical intervention, and a sizeable proportion report
reduced health-related quality of life compared with popu-
lation norms [16–20]. Table 2 outlines a range of individual
and environmental factors that have been shown to be
associated with psychological distress in adults with an
inherited cardiac condition. For instance, studies suggest in
LQTS, males appear to be more vulnerable to depression
[21], and, in HCM, females appear to be at greater risk of
anxiety [22].
Despite the high levels of psychological distress reported
by a sizeable subset of adults with an inherited cardiac
condition, many also adjust and cope well with the ongoing
symptoms and self-management demands (Table 3)[15].
One Australian study of HCM patients found those who
were satisfied with their understanding of their condition
tended to report better adjustment and less health-related
worry [15]. Other protective factors identified in general
illness literature include greater perceived social support,
optimism, problem-focussed coping, and positive general
self-efficacy (e.g. one’s belief in their ability to complete a
task) [23].
How Psychosocial Factors May
Influence Disease-Related
Outcomes
Across diverse health conditions, psychological distress is
consistently associated with a wide variety of adverse
clinical outcomes, including difficulties with treatment
642 C. O’Donovan et al.

Table 1 Summary of psychological distress and health-related quality of life outcomes in adults with an inherited
cardiac condition.
Reference Cardiac
Illness
Country Sample Findings Measure
Morgan,
O’Donoghue,
McKenna and
Schmidt (2008) [16]
HCM United
Kingdom
N = 115
27% had a familial HCM,
33% a family hx
sudden death;
18 years;
Mean age 43 years
(SD = 10);
Mean time since diagnosis
6 years (range 1-10)
50% of participants met
criteria for anxiety and 31%
met criteria for depression.
37% of participants met
criteria for an anxiety
disorder, 21% met criteria
for a mood disorder.
HADS
SCI
Hintsa, Järvinen,
Puttonen,
Ravaja,
Toivonen,
Kontula and Swan
(2009) [42]
LQTS Finland N = 1267;
595 (47%) were carriers of a
LQTS mutation (of which
261 were symptomatic and
334 were asymptomatic)
and 672 (53%) were family
members who were
non-carriers of a
LQTS mutation;
16 –65 years;
Mean age 42 years
(SD = 13);
Mean time since entering
the registry 6 years
Symptomatic participants
were 1.4 times more likely
to report depressive
symptoms than
asymptomatic patients.
Depressive symptoms
were not related to LQTS
gene mutation, but were
significantly associated
with the experience of
clinical symptoms (both
arrhythmic events in the
LQTS mutation carrier
group and syncope events
in the non-carriers).
BDI (revised)
Christiaans, van
Langen, Birnie,
Bonsel, Wilde and
Smets (2009) [22]
HCM The
Netherlands
N = 258;
Group 1 = mutation
carriers with manifest
HCM (135, 52%), Group
2 = predictively tested
relatives with manifest
HCM detected after DNA
testing (34, 13%), Group
3 = predictively tested
relatives still without
manifest HCM
detected (89, 35%);
Mean age 49 years
(SD = 15);
Age range 16 –86 years;
Mean time since genetic
testing 3 years (SD = 1)
Group 1 reported greater
symptoms of depression
compared to groups 2 and
3 and group 2 reported
greater levels of anxiety
than group 3.
Overall Group 1 reported
poorer physical quality of
life compared to groups 2
and 3 and group 2 reported
poorer physical quality of
life compared to group 3.
HADS
SF-36
Hamang, Eide,
Rokne, Nordin and
Øyen (2011) [12]
HCM & LQTS Norway N = 126;
32 (25%) had a clinical
diagnosis (12 had LQTS
and 20 had HCM) and 94
(75%) were at genetic risk
due to a family history (76
due to LQTS and 18 HCM;
From the total sample 25%
and 14% scored above the
threshold on the HADS for
anxiety and depression
respectively. There was no
difference in anxiety and
depression scores between
patients with a clinical
HADS
Patient Perceptions in ICCs 643

Table 1 (continued).
Reference Cardiac
Illness
Country Sample Findings Measure
Mean age 45 years
(SD = 16);
diagnosis and those family
members at genetic risk, or
between disease types
(LQTS compared to HCM).
Participants with an HCM
diagnosis reported poorer
physical functioning, and
greater avoidance due to
heart-focussed anxiety
compared to participants
with a LQTS diagnosis.
SF-36
CAQ
James, Tichnell,
Murray, Daly, Sears
and Calkins (2012)
[43]
ARVC with
an ICD
America N = 86;
All participants had a
clinical diagnosis of ARVC;
ICD indicated for
secondary prevention in 46
(54%) participants, primary
prevention in 39 (45%);
39 (45%) had not
experienced an ICD shock;
Mean time since ICD
implanted 5 years (SD = 5);
Mean age 46 years
(SD = 13);
Age range 18 –79 years
31% of participants met
criteria for anxiety and 9%
met criteria for depression.
HADS
Ingles, Yeates, Hunt,
McGaughran,
Scuffham,
Atherton and
Semsarian (2013) [17]
LQTS, HCM,
FDC, ARVC,
CPVT
Australia N = 409;
251 (62%) were affected
individuals with a
diagnosis of an inherited
cardiac condition (208 had
HCM, 43 LQTS, 28 FDC, 17
ARVC and 8 had CPVT)
and 158 first-degree at-risk
relatives who were
clinically unaffected but
not previously genotyped;
15 years;
Mean age 49 years
(SD = 16)
Participants with LQTS
reported poorer mental
functioning than at-risk
relatives.
Participants with HCM,
FDC and CPVT reported
poorer physical
functioning than at-risk
family members.
SF-36
Ingles, Sarina,
Kasparian and
Semsarian (2013) [44]
HCM, ARVC,
FDC, LVNC,
LQTS, CPVT,
Brugada
Syndrome
Australia N = 90;
Participants had a clinical
diagnosis of an inherited
cardiac condition and had
received an implantable
cardioverter defibrillator
(.12 months);
15 years;
Mean age 49 years
(SD = 14)
Mean time since implant
was 5 years
38% reported elevated
anxiety, 17% reported
elevated depressive
symptoms.
31% reported symptoms
indicative of post-
traumatic stress response.
HADS
IES-R
644 C. O’Donovan et al.

decision-making, medication use and cooperation with medical
recommendations, suboptimal health service use, and higher
morbidity and mortality [24–28]. Increased stress and reduced
happiness have been identified as risk factors in the preceding
24 hours of a cardiac event for LQTS patients [29], and lower
mental wellbeing predicts non-adherence to medication in
HCM patients [30].
Illness-related behaviours, such as medication adherence,
are likely to be influenced by numerous and complex factors;
however, studies show psychological variables, such as
anxiety, low self-efficacy (particularly related to one’s
perceived ability to take medication as prescribed) and
doubts about the necessity of medication, are associated with
medication non-adherence in New Zealand and Australian
inherited cardiac condition patients [30,31]. Psychological
variables, such as anxiety and self-efficacy, represent poten-
tially modifiable targets for interventions to improve patient
health and wellbeing.
A Model for Thinking About the
Role of Health-Related Beliefs and
Perceptions —The Common Sense
Model of Illness
Many successful psychosocial interventions have focussed on
illness ‘representations’,defined in the Common Sense Model
of Illness [3](Figure 1), as how patients ‘make sense of’their
health condition. According to this model, individuals are not
passive observers in medical consultations; rather, they are
constantly seeking, receiving and processing illness-related
information from multiple sources. While information pro-
vided by health care teams is one important source, personal
experience of symptoms, past illness experiences, information
from family and friends, and information from media and
social media may also shape the ways in which an individual
conceptualises his or her health and illness.
Table 1 (continued).
Reference Cardiac
Illness
Country Sample Findings Measure
Ingles, Spinks,
Yeates, McGeechan,
Kasparian and
Semsarian (2016) [14]
Sudden cardiac
death due to
HCM, ARVC,
LQTS and
LVNC
Australia N = 103;
Participants were family
members of a young
sudden death victim;
10% were clinically
affected;
19 deaths were caused by
HCM, 16 by ARVC, 9 by
LQTS and 1 by LVNC;
Mean age of 44 years
(SD = 16)
Mean time since death was
5 years (range 0.5 –10
years)
20% reported symptoms of
prolonged grief.
44% reported post-
traumatic stress symptoms
indicative of a need for
clinical intervention.
Family members reported
higher depression, anxiety,
and stress scores compared
to population norms.
PGDS
IES-R
DASS –21
Richardson,
Spinks,
Davis,
Turner,
Atherton,
McGaughran,
Semsarian and Ingles
(2018) [45]
CPVT Australia N = 36
53% were people with a
clinical diagnosis, 28%
parents of an affected child
under 18 years, 19% were
at-risk family members;
18 years;
Mean age 48 years
(SD = 16)
Mean time since diagnosis
was 9 years
26% and 16% of
participants reported
symptoms of anxiety and
depression indicative of a
need for clinical
intervention, respectively.
18% reported symptoms
indicative of a post-
traumatic stress response.
HADS
IES-R
Abbreviations: HCM, hypertrophic cardiomyopathy; CPVT, catecholaminergic polymorphic ventricular tachycardia; LQTS, long QT syndrome; FDC, familial
dilated cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy; LVNC, left ventricular noncompaction; BDI, Beck Depression Inventory;
CAQ, Cardiac Anxiety Questionnaire; DASS, Depression Anxiety and Stress Scales; HADS, Hospital Anxiety and Depression Scale; IES-R, Impact of Events Scale
–Revised; PGDS, Prolonged Grief Disorder Scale; SCI, Structure Clinical Interview; SF-36, Medical Outcomes Study Short Form Health Survey; SD, standard
deviation.
Patient Perceptions in ICCs 645

According to the Common Sense Model of Illness, infor-
mation is processed along two parallel pathways; one
pathway takes into account the role of cognitive processing
and the other depicts emotional processing (Figure 1). These
two pathways are hypothesised to interact to form a person’s
mental model (or conceptualisation) of illness, which
consciously or unconsciously guides health-related actions
and coping responses. The model proposes a continuous
feedback loop, in which coping responses are appraised in
light of effects on illness-related outcomes and this can lead
to adjustments in perceptions and coping behaviours over
time. This process is also thought to be influenced by an
individual’s personal and socio-cultural contexts. Within the
cognitive pathway, patients’perceptions of illness are said to
cluster around six dimensions, including ideas about disease
causes, consequences, timeline, controllability, coherence
(how well an individual understands their illness), and
identity (symptoms and labels) (Table 4 and Figure 2)[32].
Within the emotion processing pathway, emotional as-
pects of illness are taken into account and can strongly
influence how patients conceptualise their health condition,
and how they cope and adjust, including physical,
Table 2 Risk factors for psychological distress and lower health-related quality of life in adults with an inherited cardiac
condition.
Risk Factor Condition Psychological Distress or Health-Related
Quality of Life
Reference
Sociodemographic
Women HCM
HCM
Lower physical functioning
Greater anxiety symptoms
[17]
[22]
Men LQTS Greater depressive symptoms [21]
Younger age CPVT
ARVC with an ICD
Greater anxiety, depression and post-traumatic
stress symptoms
Greater device-related distress and body image
concerns
[45]
[43]
Lower (area level) socioeconomic
and education and occupation Indexes
HCM Poor psychological wellbeing and health-related
quality of life
[30]
No follow-up or follow-up in
non-specialist cardiac genetic service
HCM Poorer adjustment to living with HCM and
greater worry
[15]
Clinical
Resuscitated cardiac arrest Sudden cardiac
arrest patients
Greater general and cardiac-specific anxiety
symptoms
[46]
ICD implanted ICC & non-ICC patients
(includes ischaemic
heart disease)
Greater anxiety, depression and post-traumatic
stress symptoms
[44,47]
Uncertain clinical diagnosis LQTS Greater disease-related anxiety and depression [10]
Daily medication regimen LQTS Lower health-related quality of life [38]
SCD of young family member HCM, ARVC,
LQTS & LVNC
Greater post-traumatic stress and prolonged
grief symptoms
[14]
Psychological
Greater perceived uncertainty Coronary artery
disease &
cardiomyopathy
Poorer health-related quality of life [48]
Greater perceived risk of sudden
death and greater perceived
symptom severity
HCM Greater chance of being diagnosed with a mood
or anxiety disorder
[16]
Greater perceived consequences
of carriership
HCM Greater generalised anxiety and poorer physical
quality of life
[22]
Poor ICD device adjustment ARVC with an ICD Greater generalised anxiety and depression [43]
Social
Poorer social and sexual adjustment HCM Greater chance of being diagnosed with a mood
or anxiety disorder
[16]
Abbreviations: HCM, hypertrophic cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy; ICD, implantable cardioverter defibrillator;
LQTS, long QT syndrome; LVNC, left ventricular noncompaction; ICC, inherited cardiac condition.
646 C. O’Donovan et al.

psychosocial and occupational functioning (Figure 1)[33].
Fear,forexample,canmotivatesomepeopletobevigilant
with self-management behaviours, such as attending
recommended medical appointments and adhering to
prescribed medications. If fear becomes overwhelming,
however, some people may cope by becoming hypervigi-
lant regarding disease signs and symptoms, potentially
leading to overuse of medical resources. For others, fear
may generate attempts to avoid all reminders of the illness,
resulting in non-attendance at recommended appointments
or cessation of prescribed medications against medical
advice.
Coping strategies, such as avoidance, cognitive reap-
praisal and emotion venting (defined in Figure 1), can
directly influence illness outcomes in diverse ways,
depending on the way and context in which they are used
[4]. For patients with a condition that affords little
personal control, such as Huntington’s disease, psycholog-
ical distress may be reduced by avoiding reminders of the
condition. Conversely, in the context of conditions where
significant personal control is possible, such as diabetes,
avoidance of checking blood sugar levels would likely lead
to adverse outcomes. Hagger and colleagues suggest psy-
chological interventions should not only focus on assisting
patients to develop healthy illness perceptions, but should
also bolster adaptive coping strategies [4]: assisting inheri-
ted cardiac condition patients, for example, to understand
how beta blocker medication works and how important
it is in minimising the possibility of sudden cardiac death,
then supporting patients to develop practical strategies to
remember to take their medication and adjust to any side
effects.
Risk perceptions also influence how patients make sense of
their condition and may be particularly important in
inherited cardiac conditions because of the sudden and
dangerous nature of symptoms. Realising one is at increased
risk of sudden cardiac death may elicit fear and distress
prompting a need for heightened professional and social
support [34]. Importantly, a recent study suggests patients’
perceptions of risk for dangerous symptoms often do not
align with those of the physician [35], suggesting an area in
which psychological and social support could provide
benefit.
‘Making Sense’of an Inherited
Cardiac Condition
According to the Common Sense Model of Illness, infor-
mation about an illness is often processed in the context of
pre-existing knowledge and experiences of other illnesses.
Inherited cardiac conditions tend to challenge many widely-
held assumptions about disease; for example, that illnesses
have a distinct symptom profile, with a largely predictable
timeframe, where risk increases with age, and treatment can
cure or manage the illness [36]. In contrast, inherited cardiac
conditions, particularly the cardiac ion channelopathies, are
typically diagnosed in young and otherwise healthy people,
with few if any symptoms, and treatment is about miti-
gating the risk of cardiac arrest which, for many, is an ab-
stract concept. In addition, beta blockers can leave some
patients feeling worse by inducing fatigue and, in some
patients (such as males with LQTS type 1), risk may decrease
later in life [37]. Without a pre-existing schema to support
adaptive illness perceptions, it is unsurprising that many
patients report confusion about symptoms, risks and medi-
cation side-effects [38]. For people with a positive genotype
and no detected phenotype, the terms ‘at-risk relative’or
‘asymptomatic carrier’may be experienced as new and
perplexing. Being informed of the risks associated with
carriership in the absence of clinical signs of the condition is
not a typical illness model people can readily make sense of.
If we consider perceptions of illness identity as central to
patients’conceptualisation of their illness it is easy to see
that patients with a genetic diagnosis but no clinical signs of
disease may struggle to comprehend and adapt to their
condition. Research to better understand how patients
perceive various aspects of inherited cardiac conditions is
much-needed.
Psychological Interventions
Targeting Illness Perceptions
Numerous psychological interventions have demonstrated
effectiveness in improving illness perceptions in other med-
ical conditions [39–41]. One successful trial randomised
myocardial infarction patients along with their spouses to
usual care or usual care plus an illness perception
Table 3 Tasks patients with an inherited cardiac
condition may need to manage.
Regular and correct medication use
Lifelong medical surveillance
Distress tolerance and stress management skills
Informed consent and shared decision-making
Symptom management strategies
Invasive procedures (e.g. ICD implantation)
Identification of symptoms warranting clinical investigation
Lifestyle modification, including potential exercise and activity
restrictions
Adjustment to changed social and economic circumstances
Communication with physicians, family members (including
children or grandchildren, and potential partners), and other
caregivers
Grief and bereavement
Survivor guilt
Transmission guilt
SOURCE: Adapted from Marks and Allegrante, 2005 [49].
Abbreviation: ICD, implantable cardioverter defibrillator.
Patient Perceptions in ICCs 647

intervention. The intervention consisted of four 30-minute,
face-to-face sessions with a psychologist prior to hospital
discharge [40]. Illness perceptions (e.g., consequences,
treatment control, and coherence) were assessed at baseline
(prior to intervention participation) and again at discharge,
and 3 and 6 months post-hospitalisation. During sessions,
patients were supported to explore their perceptions of
myocardial infarction, challenge inaccurate beliefs and
attributions, develop strategies to enhance their sense of self-
efficacy in managing their condition, and develop an action
plan during recovery. Patients in the intervention group, on
average, reported greater engagement in physical activity
and exercise, fewer contacts with their general practitioner
(primary care physician), lower anxiety about returning to
work, and better rates of return to work compared to those
who received usual care only.
SITUATIONAL
STIMULI
Lay informaon
stored in memory,
informaon from
expected sources,
and experienced
somac and
symptomac
informaon
COGNITIVE ILLNESS
REPRESENTATIONS
Identy
Consequences
Causes
Timeline
Control
Coherence
EMOTIONAL ILLNESS
REPRESENTATIONS
COPING STRATEGIES
Avoidance
Cognive reappraisal
Emoon venng
Problem-focused
coping
Seeking social support
ILLNESS OUTCOMES
Disease state
Physical funconing
Role funconing
Social funconing
EMOTIONAL
OUTCOMES
Distress
Psychological well-
being
COPING APPRAISAL
Evaluaon of coping
strategies on
emoonal outcomes
COPING APPRAISAL
Evaluaon of coping
strategies on illness
outcomes
SELF-SYSTEM
Biological and Psychological Characteriscs
SOCIO-CULTURAL CONTEXT
Roles – Groups – Instuons
Figure 1 Schematic representation of the Common Sense Model of Illness Representations based on Leventhal et al.’s[54]
original illustration. The coping strategies and illness outcomes dimensions are based on work by Hagger and Orbell [51].
Coping strategies include avoidance: keeping away from things that act as reminders of the illness; cognitive reappraisal: re-
interpreting the meaning of something to mitigate the emotional response; emotion venting: sharing or expressing feelings
with another person; problem-focussed coping: actively working towards managing or resolving the source of the stress;
seeking social support: actively pursuing others who can care for you or assist with the management of stress. Illness out-
comes include disease state: markers of disease stability or progression, e.g. cholesterol control in hypercholesterolaemia;
physical functioning: the ability to undertake everyday tasks; role functioning: the ability to execute existing positions in one’s
life (e.g. at work or within the family); social functioning: the ability to interact easily with other people or in social situations.
648 C. O’Donovan et al.

Table 4 Cognitive representations of Illness from the Common Sense Model of Illness.
Illness Perception
Dimension
Description Example Examples of questions to
ask patients to elicit illness
perceptions [50]
Identity Name (or label) assigned to a
disease, and the signs and
symptoms an individual
associates with the condition.
Perceived identity is
hypothesised to be at the centre
of the way an individual
conceptualises his or her illness
[32], and is not necessarily
based on medical models.
Some patients who report many
symptoms and attribute these
symptoms to their illness, are more
likely to deny their illness and may
avoid engaging with important
self-management behaviours, such
as attending medical
appointments [51].
We know patients can often
find it difficult to work out
whether symptoms are due to
their heart condition or
treatment side effects. Can you
tell me about the symptoms you
experience that you think might
be due to your heart condition?
Cause Beliefs about what causes the
disease (e.g., genetics, stress,
pollution, lifestyle choices).
Causal attributions can be
multifactorial, and may include
both individual and/or
environmental factors. How a
person interprets the cause(s) of
his or her condition can strongly
influence coping responses.
Patients who attributed their
myocardial infarction to a lack of
exercise were more likely to
exercise post-discharge than those
who did not attribute their
myocardial infarction to a lack of
exercise [40].
It’s natural to wonder what
caused your heart condition.
Do you have any thoughts or
theories about what has caused
your condition?
Timeline Beliefs about whether the
disease is acute, chronic or
cyclical in nature.
Timeline beliefs can vary from
acute (e.g. a common cold) to
chronic (e.g. diabetes) or cyclical
(e.g. migraines), and can
influence self-management
behaviours, such as adherence
to medication or medical advice.
Timeline beliefs have been shown
to predict whether asthma patients
take their medication daily or only
when they feel they need to [52].
How long do you think you will
have your heart condition for?
Consequences Beliefs about the consequences
the disease has had (or may
have) on a person’s life. Beliefs
may centre on consequences for
personal experiences,
relationships, financial
hardship, mental health, social
roles, occupational
opportunities, as well as other
areas important to the person.
A young adult male with LQTS and
an ICD may feel his social
functioning has been limited
because he is unable to continue
playing competitive football with
his friends. A meta-analysis (using
many different illness groups)
found perceived consequences are
one of the strongest predictors of
depression, anxiety and health-
related quality of life [53].
We know having a heart
condition can impact many
aspects of a person’s life. What
have been the consequences of
this condition for you?
Controllability/
Cure
The cure/control dimension
includes perceptions of both
personal control (i.e., how much
a person believes he or she can
manage the illness), and
treatment control (i.e., the extent
to which medication or other
forms of treatment can control
the illness).
Patients with an inherited cardiac
condition who believed beta
blockers did not control their
condition well, were less likely to
adhere to this medication [31].
We have prescribed you a
medication for your heart
condition. How effective do you
feel this medicine has been in
managing your heart
condition?
How much control do you feel
you have personally over your
heart condition?
Patient Perceptions in ICCs 649

While, to our knowledge, there have been no such in-
terventions developed for people with an inherited cardiac
condition, it seems likely that similar interventions would be
beneficial in this population given evidence that inherited
cardiac condition patients’illness perceptions are associated
with adherence [31], risk perceptions [35], psychological
distress and health-related quality of life [22]. Qualitative
studies [38] have also identified several targets for future
interventions, including personal control (e.g., increasing
patients’capacity to tolerate uncertainty and enhance
self-efficacy with medication use), treatment control (e.g.,
increasing patients’perceptions of the necessity and efficacy
of medication), consequences (e.g., supporting management
of treatment side effects and adjustment to physical and role
limitations), and emotional responses (e.g., assisting patients
in processing significant or traumatic events and making
difficult health-related decisions).
Conclusion
A substantial subset of people living with an inherited cardiac
condition report high levels of anxiety and depression, and lower
health-related quality of life compared with population norms.
Current knowledge suggests patients who are younger, are from
lower socio-economic groups, and perceive themselves at
greater risk of sudden death may be more vulnerable to diffi-
culties adjusting to their health condition. In addition, those with
worse perceptions about the consequences of their inherited
cardiac condition report greater psychological distress, and pa-
tients with a poorer understanding of their condition and less
confidence that their treatment is effective are at higher risk of
non-adherence. To support patients who are struggling to
adhere to their medication, for example, you could use the
Common Sense Model of Illness framework and elicit patient
perceptions about treatment efficacy, explore their general
Table 4 (continued).
Illness Perception
Dimension
Description Example Examples of questions to
ask patients to elicit illness
perceptions [50]
Coherence Coherence relates to how well
an individual believes they
understand their illness.
People who believe they
understand their illness well are
less likely to experience
psychological distress and are more
likely to be able to function
physically and in their roles at
home and work than those who do
not believe they have a good
understanding of their illness [4].
These conditions are complex
and can be tricky to wrap your
head around, how well do you
feel you understand your heart
condition?
NB: To check their
understanding is accurate,
ask them to tell you their
understanding of their
condition.
Abbreviations: LQTS, long QT syndrome; ICD, implantable cardioverter defibrillator.
Figure 2 Summary of the illness perceptions from the
Common Sense Model of Illness.
Abbreviation: ICC, inherited cardiac condition.
650 C. O’Donovan et al.

understanding of their condition, and their emotional responses
to it and this may help to highlight certain beliefs that could be
driving the non-adherence (Table 4). Further research is needed
to consolidate risk and resiliency factors across different de-
mographic groups and conditions, and to develop interventions
to bolster healthy adaptation within this patient population.
Research to date suggests that the Common Sense Model of
Illness could be a useful framework for such interventions.
Acknowledgements
J. Ingles is the recipient of a National Health and Medical
Research Council of Australia Career Development Fellow-
ship (APP#1162929). N. Kasparian is the recipient of a Na-
tional Heart Foundation of Australia Future Leader
Fellowship (101229), and a 2018–2019 Harkness Fellowship
in Health Care Policy and Practice from the Commonwealth
Fund.
References
[1] Earle NJ, Crawford J, Hayes I, Rees MI, French J, Stiles MK, et al.
Development of a cardiac inherited disease service and clinical registry: a
15-year perspective. Am Heart J 2019;209:126–30.
[2] Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, et al. A
prospective study of sudden cardiac death among children and young
adults. N Engl J Med 2016;374(25):2441–52.
[3] Leventhal H, Meyer D, Nerenz D. The common sense representation
of illness danger. In: Contributions to Medical Psychology. Vol. 2. Oxford:
Pergamon Press; 1980. p. 7–30.
[4] Hagger MS, Koch S, Chatzisarantis NL, Orbell S. The common sense
model of self-regulation: meta-analysis and test of a process model.
Psychol Bull 2017;143(11):1117.
[5] Paterson J, Moss-morris R, Butler SJ. The effect of illness experience and
demographic factors on children’s illness representations. Psychol Health
1999;14(1):117–29.
[6] Mullins LL, Wolfe-Christensen C, Hoff Pai AL, Carpentier MY,
Gillaspy S, Cheek J, et al. The relationship of parental overprotection,
perceived child vulnerability, and parenting stress to uncertainty in youth
with chronic illness. J Pediatr Psychol 2007;32(8):973–82.
[7] Czosek RJ, Kaltman JR, Cassedy AE, Shah MJ, Vetter VL, Tanel RE, et al.
Quality of life of pediatric patients with long QT syndrome. Am J Cardiol
2016;117(4):605–10.
[8] DeMaso DR, Campis LK, Wypij D, Bertram S, Lipshitz M, Freed M. The
impact of maternal perceptions and medical severity on the adjustment of
children with congenital heart disease. J Pediatr Psychol 1991;16(2):137–49.
[9] Chong LSH, Fitzgerald DA, Craig JC, Manera KE, Hanson CS,
Celermajer D, et al. Children’s experiences of congenital heart disease: a
systematic review of qualitative studies. Eur J Pediatr 2018;177(3):319–36.
[10] Hendriks K, Hendriks MMWB, Birnie E, Grosfeld FJM, Wilde AAM, van
den Bout J, et al. Familial disease with a risk of sudden death: a longi-
tudinal study of the psychological consequences of predictive testing for
long QT syndrome. Heart Rhythm 2008;5(5):719–24.
[11] Hamang A, Eide GE, Rokne B, Nordin K, Bjorvatn C, Øyen N. Predictors
of heart-focused anxiety in patients undergoing genetic investigation and
counseling of Long QT syndrome or hypertrophic cardiomyopathy: a one
year follow-up. J Genet Couns 2012;21(1):72–84.
[12] Hamang A, Eide GE, Rokne B, Nordin K, Øyen N. General anxiety,
depression, and physical health in relation to symptoms of heart-focused
anxiety-a cross sectional study among patients living with the risk of
serious arrhythmias and sudden cardiac death. Health Qual Life Out-
comes 2011;9(1):100.
[13] Ingles J, Yeates L, O’Brien L, McGaughran J, Scuffham PA, Atherton J,
et al. Genetic testing for inherited heart diseases: longitudinal impact on
health-related quality of life. Genet Med 2012;14(8):749–52.
[14] Ingles J, Spinks C, Yeates L, McGeechan K, Kasparian N, Semsarian C.
Posttraumatic stress and prolonged grief after the sudden cardiac death
of a young relative. JAMA Intern Med 2016;176(3):402–5.
[15] Ingles J, Lind JM, Phongsavan P, Semsarian C. Psychosocial impact of
specialized cardiac genetic clinics for hypertrophic cardiomyopathy.
Genet Med 2008;10(2):117–20.
[16] Morgan JF, O’Donoghue AC, McKenna WJ, Schmidt MM. Psychiatric
disorders in hypertrophic cardiomyopathy. Gen Hosp Psychiatry
2008;30(1):49–54.
[17] Ingles J, Yeates L, Hunt L, McGaughran J, Scuffham PA, Atherton J, et al.
Health status of cardiac genetic disease patients and their at-risk relatives.
Int J Cardiol 2013;165(3):448–53.
[18] Alonso J, Angermeyer M, Bernert S, Bruffaerts R, Brugha T, Bryson H,
et al. Prevalence of mental disorders in Europe: results from the European
Study of the Epidemiology of Mental Disorders (ESEMeD) project. Acta
Psychiatr Scand Suppl 2004;109:21–7.
[19] Kessler RC, Chiu W, Demler O, Walters EE. Prevalence, severity, and
comorbidity of 12-month DSM-IV disorders in the national comorbidity
survey replication. Arch Gen Psychiatry 2005;62(6):617–27.
[20] Wells JE, Oakley Browne MA, Scott KM, McGee MA, Baxter J, Kokaua J.
Prevalence, interference with life and severity of 12 month DSM-IV dis-
orders in Te Rau Hinengaro: the New Zealand Mental Health Survey.
Aust N Z J Psychiatry 2006;40(10):845–54.
[21] Wesołowska K, Elovainio M, Koponen M, Tuiskula AM, Hintsanen M,
Keltikangas-JärvinenL, et al. Is symptomatic long QT syndrome associated
with depression in women and men? J Genet Couns 2017;26(3):491–500.
[22] Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AAM,
Smets EMA. Quality of life and psychological distress in hypertrophic
cardiomyopathy mutation carriers: a cross-sectional cohort study. Am J
Med Genet A 2009;149A(4):602–12.
[23] Nekouei ZK, Yousefy A, Doost HTN, Manshaee G, Sadeghei M. Struc-
tural Model of psychological risk and protective factors affecting on
quality of life in patients with coronary heart disease: a psychocardiology
model. J Res Med Sci 2014;19(2):90–8.
[24] Gehi A, Haas D, Pipkin S, Whooley MA. Depression and medication
adherence in outpatients with coronary heart disease: findings from the
Heart and Soul Study. Arch Intern Med 2005;165(21):2508–13.
[25] Moser DK. “The rust of life”: impact of anxiety on cardiac patients. Am J
Crit Care 2007;16(4):361–9.
[26] Jiang W, Kuchibhatla M, Cuffe MS, Christopher E, Alexander J, Clary G,
et al. Prognostic value of anxiety and depression in patients with chronic
heart failure. Circulation 2004;110(22):3452–6.
[27] Dunbar SB, Langberg JJ, Reilly CM, Viswanathan B, McCarty F,
Culler SD, et al. Effect of a psychoeducational intervention on depression,
anxiety, and health resource use in implantable cardioverter defibrillator
patients. Pacing Clin Electrophysiol 2009;32(10):1259–71.
[28] Grenard JL, Munjas BA, Adams JL, Suttorp M, Maglione M,
McGlynn EA, et al. Depression and medication adherence in the treat-
ment of chronic diseases in the United States: a meta-analysis. J Gen
Intern Med 2011;26(10):1175–82.
[29] Lane RD, Reis HT, Peterson DR, Zareba W, Moss AJ. Happiness and
stress alter susceptibility to cardiac events in long QT syndrome. Ann
Noninvasive Electrocardiol 2009;14(2):193–200.
[30] Ingles J, Johnson R, Sarina T, Yeates L, Burns C, Gray B, et al. Social
determinants of health in the setting of hypertrophic cardiomyopathy. Int
J Cardiol 2015;184:743–9.
[31] O’DonovanCE, Waddell-Smith KE, Skinner JR, Broadbent E. Predictors of
b
-
blockeradherencein cardiac inheriteddisease.Open Heart 2018;5(2):e000877.
[32] Leventhal H, Brissette L, Leventhal E. The common-sense model of self
regulation of health and illness. In: Cameron LD, Leventhal H, editors.
The self-regulation of health and illness behaviour. London and New
York: Psychology Press; 2003.
[33] Loewenstein GF, Weber EU, Hsee CK, Welch N. Risk as feelings. Psychol
Bull 2001;127(2):267–86.
[34] O’Donovan CE, Skinner JR, Broadbent E. Perceptions of risk of cardiac
arrest in individuals living with a cardiac inherited disease: Are the doctor
and the patient on the same page? Heart Lung Circ.https://doi.org/10.1
016/j.hlc.2019.07.008.
[35] O’Donovan CE, Skinner JR, Broadbent E. Reference frame and emotions
may contribute to discrepancies in patient and clinician risk estimates in
Long QT syndrome. Patient Educ Couns 2019;102(12):2296–301.
[36] Landrine H, Klonoff EA. Culture and health-related schem as: a review and
proposal for interdisciplinary integration. Health Psychol 1992;11(4):267.
[37] Goldenberg I, Moss AJ, Bradley J, Polonsky S, Peterson DR, McNitt S,
et al. Long-QT syndrome after age 40. Circulation 2008;117(17):2192–201.
[38] Andersen J, Øyen N, Bjorvatn C, Gjengedal E. Living with long QT
syndrome: a qualitative study of coping with increased risk of sudden
cardiac death. J Genet Couns 2008;17(5):489.
Patient Perceptions in ICCs 651

[39] Petrie KJ, Cameron LD, Ellis CJ, Buick D, Weinman J. Changing illness
perceptions after myocardial infarction: an early intervention randomized
controlled trial. Psychosom Med 2002;64(4):580–6.
[40] Broadbent E, Ellis CJ, Thomas J, Gamble G, Petrie KJ. Further devel-
opment of an illness perception intervention for myocardial infarction
patients: a randomized controlled trial. J Psychosom Res 2009;67(1):
17–23.
[41] Jones CJ, Smith HE, Llewellyn CD. A systematic review of the effec-
tiveness of interventions using the Common Sense Self-Regulatory Model
to improve adherence behaviours. J Health Psychol 2016;21(11):2709–24.
[42] Hintsa T, Keltikangas-Järvinen L, Puttonen S, Ravaja N, Toivonen L,
Kontula K, et al. Depressive symptoms in the congenital long QT syn-
drome. Ann Med 2009;41(7):516–21.
[43] James C, Tichnell C, Murray B, Daly A, Sears S, Calkins H. General and
disease-specific psychosocial adjustment in patients with arrhythmogenic
right ventricular dysplasia/cardiomyopathy with implantable car-
dioverter defibrillators: a large cohort study. Circ Cardiovasc Genet
2012;5(1):18–24.
[44] Ingles J, Sarina T, Kasparian N, Semsarian C. Psychological wellbeing and
posttraumatic stress associated with implantable cardioverter defibril-
lator therapy in young adults with genetic heart disease. Int J Cardiol
2013;168(4):3779–84.
[45] Richardson E, Spinks C, Davis A, Turner C, Atherton J, McGaughran J,
et al. Psychosocial implications of living with catecholaminergic poly-
morphic ventricular tachycardia in adulthood. J Genet Couns
2018;27(3):549–57.
[46] Rosman L, Whited A, Lampert R, Mosesso VN, Lawless C, Sears SF.
Cardiac anxiety after sudden cardiac arrest: severity, predictors and
clinical implications. Int J Cardiol 2015;181:73–6.
[47] Bilge AK, Ozben B, Demircan S, Cinar M, Yilmaz E, Adalet K. Depression
and anxiety status of patients with implantable cardioverter defibrillator
and precipitating factors. Pacing Clin Electrophysiol 2006;29(6):619–26.
[48] Carroll DL, Hamilton GA, McGovern BA. Changes in health status and
quality of life and the impact of uncertainty in patients who survive life-
threatening arrhythmias. Heart Lung 1999;28(4):251–60.
[49] Marks R, Allegrante JP. A review and synthesis of research evidence for
self-efficacy-enhancing interventions for reducing chronic disability: im-
plications for health education practice (part II). Health Promot Pract
2005;6(2):148–56.
[50] Broadbent E, Petrie KJ, Main J, Weinman J. The brief illness perception
questionnaire. J Psychosom Res 2006;60(6):631–7.
[51] Hagger MS, Orbell S. A meta-analytic review of the common-sense model
of illness representations. Psychol Health 2003;18(2):141–84.
[52] Halm EA, Mora P, Leventhal H. No symptoms, no asthma: the acute
episodic disease belief is associated with poor self-management among
inner-city adults with persistent asthma. Chest 2006;129(3):573–80.
[53] Broadbent E, Wilkes C, Koschwanez H, Weinman J, Norton S, Petrie KJ.
A systematic review and meta-analysis of the Brief Illness Perception
Questionnaire. Psychol Health 2015;30(11):1361–85.
[54] Leventhal H, Diefenbach M, Leventhal EA. Illness cognition: using
common sense to understand treatment adherence and affect cognition
interactions. Cognit Ther Res 1992;16(2):143–63.
652 C. O’Donovan et al.