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

Ingles, Jodie; Yeates, Laura; Hunt, Lauren; McGaughran, Julie; Scuffham, Paul Anthony; Atherton, J.; Semsarian, Christopher

doi:10.1016/j.ijcard.2011.08.083

Cited by 49 publications

(42 citation statements)

References 29 publications

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“…22,23 Of note, both proband groups (Groups 1 and 2) showed low HR-QoL scores, reflecting the fact they have clinical evidence of disease. 1 Specifically in cardiology, limited data exist about the impact of genetic testing for inherited heart diseases. Cross-sectional studies investigating asymptomatic HCM mutation carriers suggest HR-QoL or psychological well-being is maintained.…”

Section: Discussionmentioning

confidence: 99%

“…These are specialized cardiac genetic clinics incorporating a multidisciplinary approach to care, and offer the services of a cardiologist, a clinical geneticist, and a genetic counselor. 1,3,12 Inclusion criteria were as follows: clinically affected individuals and first-degree relatives at risk of a genetic heart disease aged more than 15 years. Diseases included the inherited cardiomyopathies such as HCM, FDC, arrhythmogenic right ventricular cardiomyopathy, and the primary arrhythmogenic disorder, LQTS.…”

Section: Patientsmentioning

confidence: 99%

“…15,16 This is one of the most widely used measures of HR-QoL in the world and its validity has been shown in many populations, including Australia. 1,17 The Short Form-36 measures eight dimensions of health and can be combined to produce two summary measures providing overall estimates for physical health (physical component score (PCS)) and mental health (mental component score (MCS)). Clinical information relating to disease status was collected from both the National Genetic Heart Disease Registry 18 and available medical records.…”

Section: Health Status Evaluationmentioning

confidence: 99%

“…Even though these diseases are clinically and genetically distinct, they share many common genetic counseling issues. 1,2 These include autosomal dominant inheritance, marked variability in onset and severity of symptoms, lifetime periodic clinical surveillance of at-risk family members, and risk of sudden cardiac death. [3][4][5][6] Genetic testing is available for these diseases, and although a genetic diagnosis does offer clarification of risk status, limitations of testing include less-than-ideal mutation detection rates and limited access to testing due to costs.…”

Section: Introductionmentioning

confidence: 99%

“…[8][9][10] In cardiac genetics, the data are limited with only a small number of studies investigating the impact of genetic testing. 1,[11][12][13][14] Understanding the psychosocial consequences of cardiac genetic testing can help to tailor pretest genetic counseling to best meet the needs of the patient.…”

Section: Introductionmentioning

confidence: 99%

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Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

Ingles

Yeates

O’Brien

et al. 2012

Genetics in Medicine

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Purpose: A genetic diagnosis is an extremely useful tool in the management and care of families with inherited heart diseases, particularly in allowing clarification of risk status of asymptomatic family members. The psychosocial consequences of genetic testing in this group are poorly understood. This longitudinal pilot study sought to determine changes in health-related quality of life in patients and asymptomatic family members undergoing genetic testing for inherited heart diseases.methods: Individuals attending two specialized multidisciplinary cardiac genetic clinics in Australia were invited to participate. Patients undergoing proband or predictive genetic testing for an inherited cardiomyopathy or primary arrhythmogenic disorder were eligible. The Medical Outcomes Short Form-36 (version 2) was administered before the genetic result was given, and follow-up surveys were completed 1-3, 6, and 12 months after the result was given.Results: A total of 54 individuals with hypertrophic cardiomyopathy, familial dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and long QT syndrome completed baseline and at least one follow-up survey, including 33 probands and 21 asymptomatic relatives. Physical and mental component scores analyzed at baseline and 1-3 months were found to be unchanged in all groups. Furthermore, no significant differences were observed up to 12 months after result. conclusion:In this longitudinal pilot study, no change in healthrelated quality of life was observed up to 12 months after the result was given in patients and their asymptomatic family members undergoing genetic testing for an inherited heart disease. Genet Med

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Section: Discussionmentioning

confidence: 99%

Section: Patientsmentioning

confidence: 99%

Section: Health Status Evaluationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

Ingles

Yeates

O’Brien

et al. 2012

Genetics in Medicine

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Factors influencing uptake of familial long QT syndrome genetic testing

Burns

McGaughran

Davis

et al. 2015

American J of Med Genetics Pt A

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Ongoing challenges of clinical assessment of long QT syndrome (LQTS) highlight the importance of genetic testing in the diagnosis of asymptomatic at-risk family members. Effective access, uptake, and communication of genetic testing are critical for comprehensive cascade family screening and prevention of disease complications such as sudden cardiac death. The aim of this study was to describe factors influencing uptake of LQTS genetic testing, including those relating to access and family communication. We show those who access genetic testing are overrepresented by the socioeconomically advantaged, and that although overall family communication is good, there are some important barriers to be addressed. There were 75 participants (aged 18 years or more, with a clinical and/or genetic diagnosis of LQTS; response rate 71%) who completed a survey including a number of validated scales; demographics; and questions about access, uptake, and communication. Mean age of participants was 46 ± 16 years, 20 (27%) were males and 60 (80%) had genetic testing with a causative gene mutation in 42 (70%). Overall uptake of cascade testing within families was 60% after 4 years from proband genetic diagnosis. All participants reported at least one first-degree relative had been informed of their risk, whereas six (10%) reported at least one first-degree relative had not been informed. Those who were anxious or depressed were more likely to perceive barriers to communicating. Genetic testing is a key aspect of care in LQTS families and intervention strategies that aim to improve equity in access and facilitate effective family communication are needed.

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Health-Related Quality of Life Assessment in Children Followed in a Cardiomyopathy Clinic

et al. 2014

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As our ability to diagnosis cardiomyopathy matures and genetic testing becomes more widespread, there has been an increase in the number of children followed for cardiomyopathy. The purpose of this study was to compare health-related quality of life (HRQoL) between children with cardiomyopathy and healthy controls and with children seen in clinic who are at risk for the development of cardiomyopathy. Patient and parent-proxy perspectives were obtained using the Pediatric Quality of Life Inventory (PedsQL(TM)) 4.0 Core Scales (ages 2-18 years) and the disease-specific Cardiac Module. Cardiomyopathy physicians' perceptions of the impact of cardiomyopathy on the functional status of the patients were collected. In addition, data regarding disease-specific medical and socioeconomic information were collected from chart review and parental report. The questionnaires were completed by 100 parent-proxies and 71 children. The PedsQL(TM) scores reported by children and their parent-proxies were compared to scores reported by pediatric norms. Compared to healthy controls, patients followed in a pediatric cardiomyopathy clinic scored lower in Total score when compared to pediatric norms (80.7 vs 86.4, p = 0.002). Interestingly, children with a family history of cardiomyopathy who are at risk for developing the disease scored similar to those children with a diagnosis of cardiomyopathy. Parental and patients perceptions were discrepant when compared, which may deter appropriate referral to behavioral health services. These results should encourage cardiomyopathy clinics to screen all patients for HRQoL impairments and to have behavioral services available to assist these children.

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

Cited by 49 publications

References 29 publications

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

Factors influencing uptake of familial long QT syndrome genetic testing

Health-Related Quality of Life Assessment in Children Followed in a Cardiomyopathy Clinic

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