Journal of Genetic Counseling

, Volume 21, Issue 1, pp 72–84

Predictors of Heart-Focused Anxiety in Patients Undergoing Genetic Investigation and Counseling of Long QT Syndrome or Hypertrophic Cardiomyopathy: A One Year Follow-up

Authors

    • Genetic Epidemiology Research Group, Department of Public Health and Primary Health CareUniversity of Bergen
    • Center for Medical Genetics and Molecular MedicineHaukeland University Hospital
    • Section of Medical Genetics
  • Geir Egil Eide
    • Centre for Clinical ResearchHaukeland University Hospital
    • Research Group on Lifestyle Epidemiology, Department of Public Health and Primary Health CareUniversity of Bergen
  • Berit Rokne
    • Department of Public Health and Primary Health CareUniversity of Bergen
  • Karin Nordin
    • Department of Public Health and Primary Health CareUniversity of Bergen
    • Department of Public Health and Caring SciencesUppsala University
  • Cathrine Bjorvatn
    • Genetic Epidemiology Research Group, Department of Public Health and Primary Health CareUniversity of Bergen
    • Center for Medical Genetics and Molecular MedicineHaukeland University Hospital
  • Nina Øyen
    • Genetic Epidemiology Research Group, Department of Public Health and Primary Health CareUniversity of Bergen
    • Center for Medical Genetics and Molecular MedicineHaukeland University Hospital
Original Research

DOI: 10.1007/s10897-011-9393-6

Cite this article as:
Hamang, A., Eide, G.E., Rokne, B. et al. J Genet Counsel (2012) 21: 72. doi:10.1007/s10897-011-9393-6

Abstract

Since Long QT syndrome and Hypertrophic cardiomyopathy are inherited cardiac disorders that may cause syncope, palpitations, serious arrhythmias, and sudden cardiac death, at-risk individuals may experience heart-focused anxiety. In a prospective multi-site study, 126 Norwegian patients attending genetic counseling were followed 1 year with multiple administration of questionnaires, including the Cardiac Anxiety Questionnaire, measuring three distinct symptoms of heart-focused anxiety- avoidance, attention, and fear—in mixed linear analyses. Overall, at 1-year follow-up, patients with clinical diagnosis as compared to patients at genetic risk had significantly higher scores of avoidance (p < .002), attention (p < .005), and fear (p < .007). Sudden cardiac death in close relatives, uncertainty whether other relatives previously had undergone genetic testing, patients’ perceived general health, self-efficacy expectations and procedural satisfaction with genetic counseling were influential in predicting the different symptoms of heart-focused anxiety over time.

Keywords

Long QT syndromeHypertrophic cardiomyopathyGenetic counselingHeart-focused anxietySudden cardiac death

Introduction

Individuals with an increased risk of developing life-threatening arrhythmias can be identified with a genetic investigation (Bos et al. 2009; Priori et al. 2003; Schwartz et al. 2001; Splawski et al. 2000; Zareba et al. 1998). Genetic testing of the autosomal dominant Long QT syndrome (LQTS) or Hypertrophic cardiomyopathy (HCM) to find a pathogenic mutation, is clearly relevant, since recommendations such as activity restrictions, avoidance of certain drugs, treatment with beta-blockers, and implantable cardioverter-defibrillators (ICD) reduce the risk of a sudden cardiac death (SCD) (Garratt et al. 2010; Goldenberg and Moss 2008). Genetic testing has also become a valuable tool to identify at-risk individuals by cascade testing in affected families (Christiaans et al. 2009).

In at-risk individuals who consent for predictive genetic testing for the specific family mutation, the mutation negative test result can exclude a cardiac inherited risk. The mutation positive test result, however, cannot always foretell the cardiac symptoms over the lifespan (penetrance), or the seriousness of symptoms in manifest cardiac disease (expressivity). Some mutations are known to be more serious than others, for example with a higher risk of symptoms manifesting in younger age (Bos et al. 2009; Goldenberg and Moss 2008), whereas other mutation carriers never present with cardiac symptoms or findings. The two cardiac disorders are distinct clinical entities; LQTS is a channelopathy (Goldenberg and Moss 2008) and HCM is a sarcomere disease (Watkins et al. 2011). However, the health threat these patients are facing, and the genetic counseling management of these two disorders are quite similar. The inherited cardiac disorders LQTS and HCM, can both cause syncope, palpitations, serious arrhythmias, or sudden cardiac death (Crotti et al. 2008; Elliott and Spirito 2008; Vincent 2005). In addition, HCM can exhibit symptoms of dyspnoea, chest pain, and exertional angina (Maron 2002).

Although a substantial portion of the individuals with LQTS or HCM never will experience syncope, palpitations, serious arrhythmias, or sudden cardiac death (Michels et al. 2009; Priori et al. 1999), cardiac-related stimuli and sensations may be misinterpreted, may create uncertainty for the individuals at genetic risk (Hendriks et al. 2008), and/or may cause a preoccupation with the heart and its functioning. Eifert et al. (2000a) defined such heart-focused anxiety as the fear of cardiac-related stimuli and sensations based upon their perceived negative consequences. Higher levels of heart-focused anxiety increase the likelihood that individuals, regardless if they have a reason for it or not, will become very distressed by any cardiac sensations. To assess such heart-focused anxiety Eifert et al. (2000a) developed the Cardiac Anxiety Questionnaire (CAQ) Box 1. Factor analysis of the CAQ revealed three factors, which include cardio-protective avoidance, heart-focused attention, and fear about heart sensations (Eifert et al. 2000a).
https://static-content.springer.com/image/art%3A10.1007%2Fs10897-011-9393-6/MediaObjects/10897_2011_9393_Figa_HTML.gif

The concept of heart-focused anxiety was originally defined to be a psychological problem in patients without cardiac disorders (Eifert 1992). Previous findings indicate that patients with coronary heart disease, as well as individuals without a cardiac disease, may experience heart-focused anxiety (Eifert et al. 2000a; Eifert et al. 2000b). Further, there are several factors and processes that may influence and maintain heart-focused anxiety, such as previous learning, psychological vulnerability, biological vulnerability and negative affect, cognition, and behavior (Eifert 1992).

Previous research on long-term psychological consequences among patients undergoing genetic investigation and counseling of LQTS or HCM is scarce. One longitudinal study reported disease-related anxiety scores that remained high over time in carriers of LQTS mutations (Hendriks et al. 2008). To our knowledge, symptoms of heart-focused anxiety have never been prospectively investigated in patients at risk of inherited cardiac disorders, although it may be a particular concern for the LQTS and HCM patient groups receiving genetic counseling.

First, patients with an actual cardiac diagnosis may experience higher levels of heart-focused anxiety (Hoyer et al. 2008; Zvolensky et al. 2003). It is therefore important to find out if levels of heart-focused anxiety differ between patients with a clinical diagnosis of LQTS or HCM, and patients at genetic risk, since both groups attend genetic counseling.

Second, previous or recent experience with a cardiac disorder or death in the family may influence and maintain heart-focused anxiety (Eifert 1992). Medical genetic investigation and counseling are often initiated because of the sudden and unexpected loss of a relative, and the possibility to offer genetic testing to other family members is available if the family specific mutation is identified in the diseased or in a relative with a clinical diagnosis. Perceived risk of sudden cardiac death in HCM mutation carriers has previously been found to be independently related to anxiety, depression, and self-reported health (Christiaans et al. 2009). Hendriks et al. (2005b) showed that distress levels in parents having children at risk of LQTS were influenced by the parents’ experiences with other relatives’ LQTS disease, and for how long they had known about the heritable nature of the disease. It is therefore relevant to explore whether sudden cardiac death in close relatives, a recent sudden death event, and patient knowledge that other relatives previously have undergone genetic testing, may predispose patients to heart-focused anxiety.

Additionally, patients’ perspectives regarding health outcomes may also be important to investigate in relation to heart-focused anxiety. In a study of hypertrophic cardiomyopathy mutation carriers, perceived general health was lower compared to general population data (Christiaans et al. 2009), a finding that has been confirmed in the participants who comprise the sample for the present study (see Hamang et al. 2010). Poor perceived health may be a risk factor not only for physical health, but also for panic problems, anxiety symptoms, and bodily vigilance (Yartz et al. 2005). In contrast, high self-efficacy expectations and satisfaction with genetic counseling have been shown to have a positive influence on psychological functioning (Bjorvatn et al. 2009; Bjorvatn et al. 2008). An important question is therefore whether patients’ perspectives in terms of perceived health and self-efficacy expectations prior to genetic investigation and counseling, and satisfaction after genetic counseling, have prognostic importance for heart-focused anxiety over time.

Purpose of the Present Study

We aimed to compare symptoms of heart-focused anxiety in patients with a clinical diagnosis of LQTS or HCM and in patients at genetic risk of LQTS or HCM. Their symptoms were measured by the levels of cardio-protective avoidance, heart-focused attention, and fear about heart sensations. Secondly, we aimed to investigate the independent influence on heart-focused anxiety of the following putative predisposing factors: sudden cardiac death in close relatives; a recent cardiac death of a relative; patient knowing whether other relatives previously have undergone genetic testing; by the factors of possible prognostic importance; poorer perceived general health; self-efficacy expectations; and satisfaction with genetic counseling (affective, instrumental, and procedural aspects); while controlling for effects of questionnaire time points, patient gender, a clinical diagnosis of LQTS or HCM, and the result of genetic testing.

Methods

Participants

The participants comprised Norwegian patients over 17 years of age with an increased risk of serious arrhythmias and sudden cardiac death due to a clinical diagnosis of LQTS or HCM, or a genetic risk based on family history of LQTS or HCM, but without prior offer of genetic investigation and counseling for any inherited cardiac disorder (Hamang et al. 2010). The participants were referred or self-referred to genetic counseling at the medical genetic departments in Bergen, Trondheim, or Oslo during the period 2005 through 2007. One hundred seventy-three patients were consecutively asked to participate in the study. Only patients who gave their consent, filled out a baseline questionnaire, and received genetic counseling were included in the baseline analyses. Of the total of 173 who were initially contacted, 126 (72.8%) patients answered the questionnaire. Of these, 88 patients were referred for familial LQTS, and 38 patients were referred for familial HCM. In this sample, 12 patients were already clinically affected with LQTS, and 20 patients were already clinically affected with HCM.

Procedure

Ethical approval for this multi-center prospective study was obtained from the Regional Committee for Medical Research Ethics in Western Norway in September 2004. Based on written informed consent patients completed questionnaires mailed to them before and after genetic counseling. The Cardiac Anxiety Questionnaire (CAQ) was administered 2 weeks before the genetic counseling session (T1) and at three time points after the genetic counseling, 4 weeks (T4), 6 months (T5), and 1 year (T6). The predictors were collected at 2 weeks before the genetic counseling session (T1) with the exception of data concerning satisfaction with genetic counseling that were collected right after the session (T3). Data collected immediately before the session (T2) were based on questions about patients’ risk perception and were not relevant for the present study. The patients had received the result of genetic testing before the 6 months follow-up (T5). The participants received one reminder to complete the surveys. Figure 1 contains a flowchart illustrating the time points and patient participation throughout the study.
https://static-content.springer.com/image/art%3A10.1007%2Fs10897-011-9393-6/MediaObjects/10897_2011_9393_Fig1_HTML.gif
Fig. 1

Flow-chart of patient participation at different questionnaire time points

Measures

Participant Characteristics

Data were obtained on age, gender, clinical diagnosis of LQTS or HCM vs. genetic risk, and sudden cardiac death in first or second degree relatives, recent cardiac death of a relative less than 1 year ago, and if the patient knew whether other relatives previously had undergone genetic testing.

Perceived General Health

The SF-36 General health domain (Ware et al. 2000) measures perceived general health (0 = worst general health, 100 = best general health). It consists of 5 items pertaining to personal evaluation of health, including current health, health outlook, and resistance to illness. Higher scores reflect more positive evaluations of one’s health. In studies conducted around the world, the SF-36 has been shown to be a reliable and valid measure for predicting health outcomes, and the Norwegian version exhibits satisfactory psychometric properties (Loge and Kaasa 1998; Loge, Kaasa, Hjermstad, & Kvien, 1998; Ware and Gandek 1998).

Self-Efficacy Expectations

The Bergen Genetic Counseling Self-Efficacy Scale (BGCSES; Bjorvatn et al. 2008) was developed by a panel of medical geneticists, genetic counselors, and psychologists at the University of Bergen, Norway, 2002, using Bandura’s guidelines for constructing Self-Efficacy Scales (revised 2001) (Albert Bandura, Stanford University, Palo Alto, CA, USA). This scale measures self-efficacy expectations related to the counseling session and its consequences (Bjorvatn et al. 2009; Bjorvatn et al. 2008). The scale consists of 21 items describing tasks and challenges that are likely to occur during and after genetic counseling, such as being able to process and remember the information given, maintain emotional control, and telling other relatives about risk. Each item is rated on a scale from 0 to 10 (0 = cannot do at all, 10 = can do without difficulty). Higher scores are indicative of higher self-efficacy expectations. The average total sum score of the scale was used.

Satisfaction with Genetic Counseling

Patients’ satisfaction with genetic counseling was assessed immediately after the genetic counseling session (T3). Participants completed the Satisfaction with Genetic Counseling Scale, a 9- item measure which has three subscales measuring instrumental, affective and procedural satisfaction (Shiloh et al. 1990). Subscale scores can range from 3–12, with higher scores indicating greater satisfaction.

Result of Genetic Testing

The mutation positive and negative results for each participant were obtained from the medical records. At T5 all patients who had a test had received their result. Patients were not offered testing if they were not appropriate for cascade testing or they were at-risk individuals in a family where no mutations were found.

Outcome: Heart-Focused Anxiety

The Cardiac Anxiety Questionnaire (CAQ; Eifert et al. 2000a) was administered at time points T1, T4, T5, and T6 to measure heart-focused anxiety over time. The CAQ consists of 18 items on three subscales that measure three distinct symptoms of heart-focused anxiety: cardio-protective avoidance, heart-focused attention, and fear about heart sensations (Eifert et al., 2000a). Each item is rated on a 5–point, Likert scale (values 0 through 4), with higher scores reflecting higher levels of heart-focused anxiety. The questionnaire was translated into Norwegian by a professional translator, using a forward and backward translation procedure.

Statistical Analysis

Continuous variables are described by mean ± standard error of the mean. Categorical variables are expressed in numbers of participants and percentages. Differences in characteristics of the participants that completed the study and dropouts were compared using the Mann-Whitney’s U test or the independent-sample t test for continuous variables, and Pearson’s exact χ2 test for categorical variables.

To investigate differences in mean level of avoidance, attention, and fear in patients with a diagnosis of LQTS or HCM as compared to patients at genetic risk, independent-sample t tests for continuous variables were used.

Mixed linear model analyses were performed to identify predictors associated with fear, avoidance, and attention. The method uses all available data, can account for correlations between repeated measurements on the same participants, has flexibility to model time effects, and is unaffected by randomly missing data (Gueorguieva and Krystal 2004). Controlling for time points, gender, diagnosis of LQTS or HCM, and the result of genetic testing, the following variables were considered as potential predictors of heart focused anxiety: sudden cardiac death in close relatives; a recent cardiac death of a relative; patient knowing whether other relatives previously had undergone genetic testing; perceived general health; self-efficacy expectations; and satisfaction (instrumental, affective, procedural) with genetic counseling. Stepwise regression analyses were conducted. After performing a backward elimination of all predictors with non-significant main effects, we ran a forward selection of interactions with time for included variables on each of the three health anxiety factors (avoidance, attention, and fear). Significant time interaction effects were finally included in the models. Models were reported as non-standardized regression coefficients (beta) with 95% confidence intervals and p-values. All tests were two-tailed at the .05 significance level. Data were analyzed using SPSS version 15.0 and 18.0.

Results

Sample Characteristics

The baseline characteristics and the mean scores of the predictors collected at time points T1, T3, and T5 for the 126 patients undergoing genetic investigation and counseling are shown in Table 1. Among the 126 participants, 32 (25.4%) were already diagnosed with LQTS or HCM. Their mean age was 44.8 years (range: 17–83), and 112 patients (88.9%) were offered and consented to genetic testing. Thirty-five patients (27.8%) had experienced sudden cardiac death in close relatives, and twenty-five patients (19.8%) had experienced a recent cardiac death of a relative less than 1 year ago.
Table 1

Characteristics of 126 patients undergoing genetic investigation and counseling of Long QT syndrome (LQTS) or Hypertrophic cardiomyopathy (HCM)

Time points

Characteristics

Respondents (n = 126)

Dropoutsb (n = 58)

p-valuea

T1

Gender (female), n (%)

67 (53.2)

27 (46.6)

0.211

Gender (male), n (%)

59 (46.8)

31 (53.4)

Patients at genetic risk LQTS or HCM, n (%)

94 (74.6)

45 (77.6)

0.541

Patients with a diagnosis LQTS or HCM, n (%)

32 (25.4)

13 (22.4)

Sudden cardiac death in first or second degree relatives

35 (27.8)

16 (27.6)

1.000

Recent cardiac death of a relative less than 1 year ago

25 (19.8)

14 (24.1)

0.370

Patient knowing whether other relatives previously had undergone genetic testing, n (%)

  

0.246

Yes

76 (60.3)

36 (62.1)

No

25 (19.8)

7 (12.1)

Uncertain

11 (8.7)

5 (8.6)

Missing

14 (11.1)

10 (17.2)

Perceived health

   

(range: 0–100), mean ± SEM

69.53 ± 1.83

71.28 ± 2.75

0.384

Self-efficacy expectations

   

(range: 0–10), mean ± SEM

8.27 ± 0.17

8.14 ± 0.26

0.414

T3

Satisfaction with counseling

   

(range: 3–12), mean ± SEM

   

Instrumental

10.61 ± 0.14

10.37 ± 0.24

0.212

Missing, n (%)

13 (10.3)

6 (10.3)

0.956

Affective

11.58 ± 0.10

11.47 ± 0.19

0.763

Missing, n (%)

14 (11.1)

7 (12.1)

Procedural

11.00 ± 0.13

10.96 ± 0.20

Missing n (%)

18 (14.3)

11 (19.1)

T5

Result of genetic testing

  

0.439

Mutation positive result, n (%)

44 (34.9)

21 (36.2)

 

Mutation not found, n (%)

68 (54.0)

27 (46.6)

Not tested, n (%)

14 (11.1)

10 (17.2)

SEM Standard error of the mean; ap-value is for differences between respondents and dropouts. bDropouts are defined as those who did not complete the 1-year follow-up questionnaire (T6). T1:2–4 weeks prior to genetic counselling; T3: immediately after genetic counselling; T5: 6 months after genetic counseling

The health status of the present sample is more extensively described in a recent publication, showing that the patients had poorer general health as compared to expected scores of the general population (mean difference −7.3 (<0.001) (Hamang et al. 2010). On average, the patients reported high levels of self-efficacy expectations before counseling and high satisfaction (instrumental, affective, procedural) with genetic counseling. A mutation was detected in 44 individuals (34.9%). In 68 individuals a mutation was not identified (54%). Fourteen individuals (11.1%) were not tested. Characteristics of the patients who completed the follow-up questionnaire at time point T6 and those who did not, were not significantly different (Table 1).

Heart-Focused Anxiety Levels

In Table 2, the mean levels of avoidance, attention, and fear are reported and compared. Overall, the scores for avoidance, attention, and fear were somewhat elevated and significantly higher in patients diagnosed with LQTS or HCM as compared to patients at genetic risk, with the exception of avoidance 4 weeks after counseling (T4), and attention and fear at 6 months after counseling (T5).
Table 2

Distribution of heart-focused anxiety for the total sample, patients at genetic risk, and patients with a diagnosis of Long QT syndrome or Hypertrophic cardiomyopathy

Measurea

Time pointsb

Total Sample

n

Patients at genetic risk

n

Patients with a diagnosis

n

t-test

Mean ± SEM

Mean ± SEM

Mean ± SEM

p-valuec

Avoidance

T1

0.94 ± 0.07

125

0.82 ± 0.07

93

1.27 ± 0.18

32

0.024

T4

0.88 ± 0.10

79

0.76 ± 0.10

59

1.23 ± 0.24

20

0.082

T5

1.01 ± 0.12

64

0.79 ± 0.12

44

1.51 ± 0.23

20

0.004

T6

0.96 ± 0.11

67

0.76 ± 0.11

49

1.50 ± 0.21

18

0.002

Attention

T1

0.76 ± 0.06

126

0.65 ± 0.06

94

1.11 ± 0.15

32

0.006

T4

0.75 ± 0.08

79

0.60 ± 0.07

59

1.21 ± 0.22

20

0.013

T5

0.72 ± 0.08

64

0.65 ± 0.10

44

0.86 ± 0.09

20

0.198

T6

0.73 ± 0.08

67

0.55 ± 0.08

49

1.19 ± 0.19

18

0.005

Fear

T1

1.19 ± 0.07

125

1.08 ± 0.08

93

1.54 ± 0.15

32

0.004

T4

1.21 ± 0.08

79

1.12 ± 0.09

59

1.50 ± 0.20

20

0.045

T5

1.23 ± 0.09

64

1.17 ± 0.12

44

1.37 ± 0.13

20

0.303

T6

1.18 ± 0.10

67

1.02 ± 0.11

49

1.60 ± 0.17

18

0.007

SEM standard error of mean, n number of participants; n’s vary due to missing data

aThe Cardiac Anxiety Questionnaire consists of three subscales—avoidance, attention, and fear. Scores for each subscale can range from 0–4.

bT1: 2 weeks before GC

T4: 4 weeks after GC

T5: 6 months after GC

T6: 1 year after GC

cIndependent samples t test of difference between patients at genetic risk and patients with a diagnosis

Mixed Linear Models for Avoidance, Attention, and Fear

In the mixed linear model for avoidance, the average level of avoidance was significantly less before counseling (T1) as compared to 1 year after genetic counseling (T6). Higher avoidance scores at 6 months after counseling (T5) were predicted by having received a mutation positive result (p < .032). Higher avoidance scores over time (Questionnaire time points T1, T4, T5 and T6) were predicted by poorer perceived health prior to genetic counseling (T1). Lower avoidance scores over time (Questionnaire time points T4, T5 and T6) were predicted by procedural satisfaction with genetic counseling after the counseling session (T3) (Table 3). For example, a one point increase in procedural satisfaction resulted in a 0.074 point decrease in avoidance, while a positive mutation test result compared to a negative one, resulted in a 0.358 increase in avoidance scores.
Table 3

Predictors of cardio-protective avoidance in a mixed linear regression modela for patients undergoing genetic investigation and counseling (GC) for Long QT syndrome or Hypertrophic cardiomyopathy (n = 108)b

Variables

Coefficient

95% CIc

p value

Constant

3.335

2.438, 4.232

<0.001

Time Points

  

0.144

T1: 2 weeks before GC (n = 108)

−0.948

−1.815, −0.081

T4: 4 weeks after GC (n = 70)

−0.126

−0.316, 0.064

T5: 6 months after GC (n = 57)

−0.128

−0.290, 0.034

T6: 1 year after GC (n = 60)

0d

 

Gender (woman)

0.110

−0.120, 0.340

0.346

Genetic risk vs diagnosis

−0.141

−0.414, 0.132

0.308

Result of genetic testing

  

0.769

Not offered genetic testing

0.027

−0.535, 0.590

Mutation positive result

−0.234

−0.527, 0.058

Mutation negative result

0

 

General health perceptione

−0.022

−0.028, -0.016

<0.001

Procedural satisfactionf

−0.074

−0.143, −0.005

0.037

Time Point x result of genetic testing

  

0.032

T5 x not offered genetic testing

0.142

−0.364, 0.648

T5 x Mutation positive result

0.358

0.092, 0.625

T5 x Mutation negative result

0

 

T6

0

Cardio-protective avoidance was measured by the Avoidance subscale of the Cardiac Anxiety Questionnaire. Scores can range from 0–4, with higher scores indicative of greater avoidance.

afrom stepwise regression

bOnly patients who completed the entire dataset are included in the model

cCI confidence interval

d0 is the reference category

eRange: 0–100

fRange: 0–10

The average level of attention was also significantly less before counseling (T1), as compared with 1 year after genetic counseling (T6). Higher attention scores over time (Questionnaire time points T1, T4, T5 and T6) were predicted by a close relative’s sudden cardiac death, uncertainty whether other relatives previously had undergone genetic testing, and poorer perceived general health prior to genetic counseling (T1), whereas lower attention scores over time (Questionnaire time points T4, T5 and T6) were predicted by higher levels of procedural satisfaction immediately after genetic counseling (T3) (Table 4).
Table 4

Predictors of heart-focused attention in a linear regression modela for patients undergoing genetic investigation and counseling (GC) for Long QT syndrome and Hypertrophic cardiomyopathy (n = 97)b

Variables

Coefficient

95% CIc

p value

Constant

2.323

1.430, 3.216

<0.001

Time Points

  

0.107

T1: 2 weeks before GC (n = 97)

−0.858

−1.695, −0.021

T4: 4 weeks after GC (n = 66)

0.010

−0.165, 0.184

T5: 6 months after GC (n = 53)

0.010

−1.120, 0.133

T6: 1 year after GC (n = 56)

0d

 

Gender (woman)

0.149

−0.050, 0.349

0.141

Genetic risk vs diagnosis

−0.052

−0.346, 0.242

0.726

Result of genetic testing

  

0.771

Not offered genetic testing

−0.131

−0.528, 0.266

Mutation positive result

0.016

−0.203, 0.235

Mutation negative result

0

 

Sudden cardiac death in close relatives

  

0.011

No

−0.301

−0.530, −0.072

Yes

0

Patient knowing whether other relatives previously had undergone genetic testing

  

<0.001

No

0.187

−0.101, 0.475

Uncertain

0.776

 

Yes

0

0.404, 1.148

General health perceptione

−0.010

−0.015, −0.005

<0.001

Procedural satisfactionf

−0.076

−0.142, −0.010

0.024

Heart-focused attention was measured by the Attention subscale of the Cardiac Anxiety Questionnaire. Scores can range from 0–4, with higher scores indicative of greater attention afrom stepwise regression

bOnly patients who completed the entire dataset are included in the model

cCI confidence interval

d0 is the reference category

eRange: 0–100

fRange: 0–10

Higher fear scores over time (Questionnaire time points T1, T4, T5 and T6) were predicted by female gender, a close relative’s sudden cardiac death, and poorer perceived health prior to genetic counseling (T1), whereas lower fear scores over time were predicted by higher levels of self-efficacy expectations prior to genetic counseling (T1) (Table 5).
Table 5

Predictors of fear about heart sensations in a mixed linear regression modela for patients undergoing genetic investigation and counseling (GC) for Long QT syndrome and Hypertrophic cardiomyopathy (n = 120)b

Variables

Coefficient

95% CIc

p value

Constant

3.433

2.919, 3.947

<0.001

Time Points

  

0.989

T1: 2 weeks before GC (n = 120)

0.052

−0.090, 0.195

T4: 4 weeks after GC (n = 77)

0.049

−0.085, 0.184

 

T5: 6 months after GC (n = 62)

−0.008

−0.105, 0.088

T6: 1 year after GC (n = 66)

0d

 

Gender (Female)

0.265

0.093, 0.436

0.012

Genetic risk vs diagnosis

−0.208

−0.412, -0.004

0.094

Result of genetic testing

  

0.997

Not offered genetic testing

0.009

−0.312, 0.329

Mutation positive result

−0.006

−0.182, 0.171

Mutation negative result

0

Sudden cardiac death in close relatives

  

0.002

No

−0.364

−0.553, −0.175

Yes

0

Perceived general healthe

−0.017

−0.21, −0.013

<0.001

Self-efficacy expectationsf

−0.100

−0.145, −0.055

<0.001

Fear about heart sensations was measured by the Fear subscale of the Cardiac Anxiety Questionnaire. Scores can range from 0–4, with higher scores indicative of greater fear

afrom stepwise regression

bOnly patients who completed the entire dataset are included in the model

cCI confidence interval

d0 is the reference category

eRange:0–100

fRange:0–10

Discussion

We investigated patient-reported heart-focused anxiety (avoidance, attention, fear) and factors hypothesized to influence heart-focused anxiety over time in patients undergoing genetic investigation and counseling for Long QT syndrome (LQTS) or Hypertrophic cardiomyopathy (HCM). Levels of heart-focused anxiety (avoidance, attention, fear) were significantly higher in patients having a diagnosis of LQTS or HCM as compared to patients at genetic risk at baseline, and at 1 year follow-up after genetic counseling. Predisposing factors of heart-focused anxiety were a close relative’s sudden cardiac death (predicting higher attention and fear levels), and uncertainty whether other relatives previously had undergone genetic testing (predicting higher levels of attention). Factors of prognostic importance for heart-focused anxiety were poorer perceived general health (predicting higher avoidance, attention, and fear levels), higher levels of self-efficacy expectations (predicting lower fear levels), and procedural satisfaction with genetic counseling (predicting lower levels of avoidance and attention). In addition female gender predicted higher levels of fear, and receiving a mutation positive test result predicted a higher avoidance level at 6 months after genetic counseling (T5).

Comparing Heart-Focused Anxiety Levels in the Patients Groups

Both patients with coronary heart disease and individuals without a cardiac disease have previously reported heart-focused anxiety (Eifert et al. 2000a; Eifert et al., b); however some studies have shown that patients with an actual cardiac diagnosis experienced higher levels of heart-focused anxiety (Hoyer et al. 2008; Zvolensky et al. 2003). These results concur with the present finding that patients not affected with HCM or LQTS at the time of the study had significantly lower levels of avoidance, attention, and fear as compared to patients who were affected. Patients with a clinical diagnosis of LQTS or HCM in the present study scored approximately similar to patients investigated for heart-focused anxiety after aortic valve replacement (Aicher et al. 2011). Whether the higher levels of heart-focused anxiety in patients with manifest disease are due to the higher likelihood of experiencing symptoms or a realization of having a life-threatening cardiac disorder is unknown. Based on the fact that avoidance levels 4 weeks after counseling, and attention and fear levels at 6 months after counseling were not significantly different between the groups, one might assume that heart-focused anxiety first of all is a specific anxiety concern.

Predictors of Heart-Focused Anxiety

Earlier studies have also suggested that variables related to a family history of sudden cardiac death are associated with anxiety (Christiaans et al. 2009; Hendriks et al., 2005b; Hendriks et al. 2008), parental ischemic heart disease is a potential predictor of heart-focused anxiety (Eifert and Forsyth 1996), and genetic testing causes disease-related anxiety up to 18 months after testing. We therefore expected that previous or recent experience with sudden cardiac death in a relative and genetic testing in the family would contribute to higher levels of heart-focused anxiety. The present study confirmed that the experience of a close relative’s sudden cardiac death significantly predicted higher levels of heart-focused anxiety (attention and fear) over time, whereas the heart-focused anxiety levels (attention) were lower among patients that knew other relatives previously had undergone genetic testing. These findings emphasize the importance of communication and openness in families that are undergoing genetic investigation. Illness-related uncertainty has previously been shown to be a major psychological stressor for patients with life-threatening arrhythmias (Carroll et al. 1999). Uncertainty if there are possibilities to either confirm or exclude cardiac inherited risk, may therefore cause increased levels of heart-focused attention and monitoring in otherwise healthy individuals.

When investigating the importance of the patients’ perspective of health in relation to the outcomes, poor perceived general health was the factor that related significantly to higher scores on all indicators of heart-focused anxiety (avoidance, attention, and fear). In general, perceived health has been associated with functional ability, medical diagnosis, and physical and mental symptoms (Fayers and Sprangers 2002), panic disorder frequency and higher levels of anxiety sensitivity (Gregor et al. 2005), and it has been found to be a prognostic indicator for morbidity and mortality in elderly women with myocardial infarction (Norekval et al. 2010). The present results showed that perceived general health also was an independent predictor of heart-focused anxiety beyond time, gender, having a clinical diagnosis of LQTS or HCM, and the genetic test result. Poor perceived general health in this patient group may therefore indicate patients vulnerable for heart-focused anxiety.

Procedural satisfaction with genetic counseling resulted in decreased avoidance and attention levels over time, but only patients’ own self-efficacy expectations resulted in decreased levels of fear. High self-efficacy expectations specific to genetic counseling can be regarded as a self-confident view of one’s capabilities in coping with tasks and challenges during and after the counseling session. These tasks and challenges may be cognitive, emotional, and/or communicative. In other words, patients’ high expectations of being able to process and understand genetic information, cope with emotions, and communicate risk-information to other family members were associated with less fear of their own heart sensations and functioning. Other research also strongly supports self-efficacy as a positive resource that can influence health behaviors, emotions, and health functioning in patients attending genetic counseling (Bjorvatn et al. 2009; Bjorvatn et al. 2008).

Study Limitations and Strengths and Research Recommendations

This study has some limitations that should be considered. The generalizability of the research findings to individuals other than those who participated in the study is questionable, given the percentage of patients that were not willing to participate (22.5%). No information about this group is available as one is not allowed to register information on decliners. Furthermore, there were a sizeable number of drop-outs and non-responders among those included in the study. As long as data are missing at random, however, this should not compromise the results when applying the mixed linear method (Gueorguieva and Krystal 2004). An investigation of the characteristics of patients that had completed T1 indicated no significant differences between those who completed T6 or dropped out during the course of the study (Table 1).

The two cardiac disorders, Long QT syndrome and Hypertrophic cardiomyopathy, share many common features, especially with regard to the risk of arrhythmia, syncope, and sudden cardiac death, and how they are managed in the genetic counseling setting. However, these two cardiac disorders certainly have different etiologies (Goldenberg and Moss 2008; Watkins et al. 2011). Investigation of these differences was beyond the scope of the present study, and thus further research is needed. The sample also consisted of more patients at genetic risk compared to patients with a diagnosis, although this difference was controlled for in the analyses.

The strengths of this study include its prospective design, which afforded considerable control over the predictors and outcome, as the mixed linear method flexibly can model time effects (Gueorguieva and Krystal 2004). However, correlational research as such is weaker than experimental research in elucidating cause-and effect. Therefore, future research should explore the possibility of using experimental designs. Data were collected at three different hospitals in three different health regions in Norway to reduce the possible influence of community characteristics. Not much research of this type has been conducted on patients undergoing genetic investigation and counseling for inherited cardiac disorders. To our knowledge, this is the first prospective study to address heart-focused anxiety in this patient group. This is also the first study to examine whether variables related to previous and recent experience with the inherited cardiac disorder in the family predispose to heart-focused anxiety and whether perceived health, self-efficacy expectations and satisfaction with genetic counseling are of prognostic importance for heart-focused anxiety.

Clinical Implications

The present findings have several implications for clinical practice. The genetic counseling session provides a venue for addressing heart-focused anxiety. The finding that patients who were already clinically affected either with LQTS or HCM had higher levels of heart-focused anxiety warrants attention, since emotional distress is known to be one of the triggers of serious symptoms, both in LQTS and HCM patients (Lampert et al. 2010; Vincent 2005). In Norway diagnostic genetic testing can be performed without prior genetic counseling, whereas patients undergoing predictive genetic testing are protected by the law and are entitled to genetic counseling before, during and after the testing (Act of biotechnology 2003). The present finding underlines the importance of providing genetic counseling as part of the molecular genetic investigation for clinically affected LQTS and HCM patients.

Sudden cardiac death in relatives often initiates genetic cascade testing of at-risk individuals in LQTS and HCM families. Knowing that patients with a family history of sudden cardiac death are especially vulnerable for heart-focused anxiety is important for follow up of these families. For example, attention should be drawn to the possibility of a closer collaboration between the cardiologist and the genetic counselor in managing these patients, including addressing their experience with cardiac symptoms to a greater extent.

Whether information about genetic testing and risks should be provided to individuals other than the patient is one of the ethical issues discussed in a public health perspective in relation to predictive genetic testing (Fulda and Lykens 2006; Hamang et al. 2009). Patients that already knew of family specific testing prior to receiving their own genetic investigation and counseling, had lower levels of heart-focused attention and monitoring of cardiac activity, than patients who were uncertain whether other relatives had undergone genetic testing. The present findings give the field of cardio-genetic counseling some initial reassurance that information provided of family specific testing does not cause adverse effects, but actually is related to decreased levels of heart-focused anxiety.

Avoidance and attention levels were significantly lower before genetic counseling as compared to 1 year after genetic counseling, and patients who received an unfavorable genetic test result showed increased levels of avoidance 6 months after genetic counseling. Avoidance and attention may occur in response to medical advice, and it may sometimes be beneficial for patients with lingering cardiac problems to be aware of heart sensations that may cause cardiac problems (Hoyer et al. 2008). Activity restrictions such as avoiding intense sports are one of the recommendations to prevent life-threatening arrhythmias for patients with LQTS or HCM (Zipes et al. 2006). This advice is addressed in the genetic counseling of these patients and may have influenced the present results, especially among patients with a mutation positive genetic test result. However, the genetic test result was not significantly related to fear and attention levels, suggesting that other issues are more important in determining these symptoms. The need for further genetic counseling sessions to address these issues may be warranted.

Decreased levels of patient satisfaction with genetic counseling have previously been associated with increased distress levels (Tercyak et al. 2004). Patients living with LQTS generally were dissatisfied with the health care provided to them because of identified gaps in knowledge of the health personnel, patient frustration about having to explain their disease to doctors, and even patients experiencing not being taken seriously (Andersen et al. 2008; Hendriks et al. 2005a). Patients with high satisfaction with the procedural parts of the genetic counseling had lower levels of cardio-protective avoidance and heart-focused attention in the present study. This may indicate that increased satisfaction with genetic counseling may lead to decreased levels of heart-focused anxiety. Procedural satisfaction reflects satisfaction with administrative processes such as waiting time, bureaucratic arrangements, and conduct of administrative staff. Therefore, the experience of communicating with personnel who are familiar with the patients’ health concerns, scheduling of the session within a reasonable time after referral, provision of relevant information regarding treatment, and appropriate prevention and follow-up may prevent heart-focused anxiety.

Finally, improving patients’ low self-efficacy expectations may be an important task in genetic counseling. When genetic counselors provide genetic knowledge, normalize emotions, and offer help to inform other family members, their interventions may strengthen patient self-efficacy. In turn, higher self-efficacy may result in lower their heart-focused anxiety.

Conclusion

Three distinct symptoms of heart-focused anxiety—avoidance, attention, and fear—were overall higher in patients with a clinical diagnosis of LQTS or HCM as compared to patients at genetic risk of LQTS or HCM. However, having a clinical diagnosis did not have an independent effect in predicting heart-focused anxiety over time. Patients with a family history of sudden cardiac death in close relatives and patients uncertain whether other relatives had undergone genetic testing seemed to be predisposed to heart-focused anxiety. 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.

Acknowledgements

The authors thank all patients who participated in the study. We also acknowledge all helpful assistance from the Genetic Departments in Oslo, Bergen and Trondheim. The project was supported financially by Western Norway Regional Health Authority and the University of Bergen.

Copyright information

© National Society of Genetic Counselors, Inc. 2011