title: Health status of cardiac genetic disease patients and their at-risk relatives.
abstract: BACKGROUND
  Health status is an important outcome measure that incorporates multiple dimensions of health, including symptoms, functional status, and psychosocial factors. While health status has been shown to be a predictor for hospital readmission, morbidity and mortality in the heart failure setting, there are limited data in cardiac genetic disease. We examined health status in a number of cardiac genetic disease groups compared to the general Australian population.
  
  
  METHODS
  A total of 409 individuals were assessed. Individuals with inherited cardiomyopathies [hypertrophic cardiomyopathy (HCM), familial dilated cardiomyopathy (FDC), arrhythmogenic right ventricular cardiomyopathy (ARVC)] and primary arrhythmogenic disorders [long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT)], as well as their first-degree relatives, completed the Medical Outcomes Survey Short Form-36 (SF-36). The physical and mental component scores (PCS and MCS) and SF-6D utility score were assessed.
  
  
  RESULTS
  Patients with HCM (p<0.001), FDC (p<0.05), and CPVT (p<0.05) were found to have a significantly lower PCS, while patients with LQTS (p<0.01) had a lower MCS. Individuals at risk of HCM (p<0.0001) and genotype positive-phenotype negative HCM patients (p<0.01) both had a higher PCS and utility scores compared to the clinically affected HCM population. Individuals at risk of LQTS had significantly higher PCS than those with a clinical diagnosis of LQTS (p<0.05) and similarly individuals at risk of FDC had significantly higher PCS than FDC patients (p<0.05). In HCM, female gender (p=0.002), presence of co-morbidities (p<0.0001) and higher NYHA functional class (p<0.0001) were predictors of a lower PCS.
  
  
  CONCLUSIONS
  Patients with a clinical diagnosis of a genetic heart disease have an impaired health status, related to both physical and mental function. Clinical management strategies in such patient groups need to consider health status as an important outcome measure.
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.
authors.forename: Jodie
authors.initials: J
authors.lastname: Ingles
authors.forename: Laura
authors.initials: L
authors.lastname: Yeates
authors.forename: Lauren
authors.initials: L
authors.lastname: Hunt
authors.forename: Julie
authors.initials: J
authors.lastname: McGaughran
authors.forename: Paul A
authors.initials: PA
authors.lastname: Scuffham
authors.forename: John
authors.initials: J
authors.lastname: Atherton
authors.forename: Christopher
authors.initials: C
authors.lastname: Semsarian
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006304:Health Status; D006331:Heart Diseases / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012042:Registries; D012307:Risk Factors; D055815:Young Adult