Establishment of an Australian National Genetic Heart Disease Registry

Ingles, Jodie, McGaughran, Julie, Vohra, Jitendra, Weintraub, Robert G., Davis, Andrew, Atherton, John and Semsarian, Christopher (2008) Establishment of an Australian National Genetic Heart Disease Registry. Heart Lung and Circulation, 17 6: 463-467. doi:10.1016/j.hlc.2008.05.603

Author Ingles, Jodie
McGaughran, Julie
Vohra, Jitendra
Weintraub, Robert G.
Davis, Andrew
Atherton, John
Semsarian, Christopher
Title Establishment of an Australian National Genetic Heart Disease Registry
Journal name Heart Lung and Circulation   Check publisher's open access policy
ISSN 1443-9506
Publication date 2008-12-01
Year available 2008
Sub-type Article (original research)
DOI 10.1016/j.hlc.2008.05.603
Open Access Status Not Open Access
Volume 17
Issue 6
Start page 463
End page 467
Total pages 5
Place of publication London, United Kingdom
Publisher Elsevier
Language eng
Subject 1102 Cardiovascular Medicine and Haematology
Abstract A National Genetic Heart Disease Registry has recently been established, with the aim to enrol every family in Australia with a genetically determined cardiomyopathy or primary arrhythmic disorder. The Registry seeks to further our understanding of the impact and burden of disease in this population; increase awareness and provide education to health professionals and families; and establish a large cardiac genetic cohort as a resource for approved research studies. The Registry is currently recruiting families with inherited cardiomyopathies (e.g. hypertrophic cardiomyopathy) and primary arrhythmogenic disorders (e.g. long QT syndrome), with scope to expand this in the future. Affected individuals, as well as their first-degree (at-risk) family members are eligible to enrol. Participants are currently being recruited from cardiac genetics clinics in approved recruitment sites and hope to expand to other Australian centres including general cardiology practice in the future. A significant focus of the Registry is to improve understanding and create awareness of inherited heart diseases, which includes ensuring families are aware of genetic testing options and current clinical screening recommendations for at-risk family members. A Registry Advisory Committee has been established under the NHMRC Guidelines, and includes a representative from each major recruitment centre. This committee approves all decisions relating to the Registry including approval of research studies. A National Genetic Heart Disease Registry will provide a valuable resource to further our knowledge of the clinical and genetic aspects of these diseases. Since most of the current data about the prevalence, natural history and outcomes of genetic heart diseases has emanated from the United States and Europe, characterising these Australian populations will be of significant benefit, allowing for more informed and specific health care planning and resource provision.
Keyword Genetic heart disease
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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Created: Thu, 03 Sep 2009, 19:08:45 EST by Mr Andrew Martlew on behalf of Faculty Of Health Sciences