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.
Highlights
The 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
Comparisons with the expected scores of the general population In table 2 the social functioning (SF)-36 health status scores among patients at risk of inherited arrhythmias compared to the expected scores of the general population is presented
There were no significant differences between the patients with a clinical diagnose of LQTS and the expected scores, and the family risk group had better scores on the domains of physical health and bodily pain, than the general population
Summary
The 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. Patients with long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) have a genetically based increased risk for serious arrhythmias. Both patients and family members live with the threat of a premature sudden death. The manifestations of symptoms can range from asymptomatic to sudden death, but there can be a lot of variation between individuals and families. Being genetic disorders causing arrhythmias they still have a lot in common in the genetic counselling setting, where topics like inheritance patterns, symptoms, management and prevention are being addressed according to guidelines [5]
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