Health status of cardiac genetic disease patients and their at-risk relatives

https://doi.org/10.1016/j.ijcard.2011.08.083Get rights and content

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.

Section snippets

Background

There are now over 40 cardiovascular disorders in which a genetic cause has been identified. These cardiac genetic diseases include the inherited cardiomyopathies such as hypertrophic cardiomyopathy (HCM), familial dilated cardiomyopathy (FDC), arrhythmogenic right ventricular cardiomyopathy (ARVC) and primary arrhythmogenic disorders such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome (BrS). While these diseases have distinct

Study aims

While health status has been assessed in more common cardiovascular diseases, there are limited data available regarding health status of patients living with cardiac genetic disorders and their at-risk relatives. This study sought to evaluate differences in health status amongst cohorts of cardiac genetic patients, compare health status between clinically affected individuals and at-risk relatives, and to identify potential clinical predictors.

Patient selection

From August 2007 to November 2010, patients attending two specialised cardiac genetic centres, the Hypertrophic Cardiomyopathy and Genetic Heart Disease Clinics, Royal Prince Alfred Hospital in Sydney, and the Cardiac Genetics Clinic, Royal Brisbane and Women's Hospital in Brisbane, were invited to participate. Patients were also recruited from the Australian National Genetic Heart Disease Registry (NGHD Registry) [13]. Inclusion criteria included affected individuals aged over 15 years with a

Population characteristics

The sociodemographic characteristics of the cohort are summarised in Table 1. A total of 409 individuals completed the SF-36 survey (response rate 55%). The overall mean age of the cohort was 49 ± 16 years with 196 (48%) being males. A genetic diagnosis was available in 17% of the HCM group and 21% of the LQTS group. In the groups at risk of disease, 97% had undergone clinical screening on at least one occasion. Data for 29 participants was not included due to statistically small numbers or

Discussion

This study evaluated the health status of a unique cohort of patients with a number of different genetic heart diseases. Despite different clinical phenotypes, patients with HCM, FDC, and CPVT were all found to have reduced physical component scores compared to a normal Australian population, while patients with LQTS had a reduced mental component score. Between group analyses found individuals at risk of HCM and genotype positive–phenotype negative HCM patients both had a higher PCS and

Acknowledgements

JI is the recipient of a University of Sydney Postgraduate Award, and CS is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship. This study was also supported, in part, by an NHMRC project grant. The authors of this manuscript have certified that they comply with the Principles of Ethical Publishing in the International Journal of Cardiology.

References (30)

  • R.E. Hershberger et al.

    Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy

    Circ Heart Fail

    (May 2009)
  • J. Ingles et al.

    Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

    J Med Genet

    (Oct 2005)
  • I. Christiaans et al.

    Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study

    Am J Med Genet A

    (Feb 15 2009)
  • S. Cox et al.

    Health related quality of life and psychological wellbeing in patients with hypertrophic cardiomyopathy

    Heart

    (Aug 1997)
  • B.J. Maron et al.

    Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy

    Eur Heart J

    (Jul 2010)
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