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