Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population

Abstract

BackgroundThe possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health among these individuals. The study compared health status among patients at risk of arrhythmia because of family history or clinical diagnosis of LQTS and HCM with reference health status scores of the general population.MethodsIn the period 2005-2007, 127 patients (mean age 45 years, 53.5% women), with a family history of arrhythmia (n = 95) or a clinical diagnosis of LQTS (n = 12) or HCM (n = 19) referred for genetic counselling at the medical genetic departments in Norway filled in a questionnaire (Short Form Health Survey SF-36) measuring health status on eight domains. The patient SF-36 scores were compared to expected scores of the general population by t-test, and the relationship between the socio-demographic variables, clinical status, and SF-36 domains were analysed by multiple linear regression.ResultsThe total sample reported significant lower SF-36 score as compared to the general population scores for the domain of general health (mean difference -7.3 (<0.001). When analysing the sample in subgroups according to clinical status, the general health was still significant lower for the group of family risk and in the group of HCM. In addition the physical functioning, role physical, vitality and role emotional domains were reduced for the latter group. In general, employment, higher education and being referred to genetic counselling through a family member were associated with better scores on the health status domains.ConclusionsHaving a genetic risk of arrhythmia affects general health significantly. In addition, patients with a clinical diagnosis of HCM demonstrate a significantly poorer health in both physical and mental domains.

Psychological Issues in Genetic Testing for Inherited Cardiovascular Diseases

“…The psychological implications of having an ICD have been well studied, yet its effects on quality of life, anxiety, and depression are conflicting. 10,11 One small study suggested that quality of life and depression were worse in ICD patients with inherited diseases compared with those with ischemic or valvular heart disease. 12 The influence of appropriate or inappropriate shocks on quality-of-life measures, as assessed as a secondary end point in randomized trials, as well as smaller observational studies, is mixed and does not consistently support a negative association or relationship between number of shocks and psychological effects.…”

“…11 How might predictive genetic testing influence health perception? Individuals who test negative for a pathogenic familial mutation can be reassured that they and their offspring are no more at risk of developing that particular disease than the general population and can forego further clinical screening.…”

Anxiety in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy and Implantable Cardioverter Defibrillators

“…Studies on these disorders have consistently shown impairments in health status and quality of life, with an elevated risk for anxiety and depression. [1][2][3][4] An implantable cardioverter defibrillator (ICD) may be indicated for primary or secondary prevention of SCD in these patients, and is likely to exacerbate psychological distress. Independent of underlying diagnosis, patients requiring ICDs commonly experience anxiety and/or depression related to the anticipation of a potential shock.…”

Health Status and Psychological Distress in Patients with Non-compaction Cardiomyopathy: The Role of Burden Related to Symptoms and Genetic Vulnerability

“…However, the HCM group showed a ** Fig. 2 Health status, anxiety and depression of NCCM and dilated cardiomyopathy patients stratified by NYHA classification significantly lower general health, physical functioning, role physical, vitally and role emotional significantly lower compared to general population (and LQTS group) [25,26]. A few other studies reported almost no increase in prevalence of anxiety and depression in patients with inherited cardiac disease [27][28][29].…”