title: Establishment of an Australian National Genetic Heart Disease Registry.
abstract: A National Genetic Heart Disease Registry has recently been established, with the aim to enroll 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 enroll. 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.
authors: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.
authors: Jodie
authors: J
authors: Ingles
authors: Julie
authors: J
authors: McGaughran
authors: Jitendra
authors: J
authors: Vohra
authors: Robert G
authors: RG
authors: Weintraub
authors: Andrew
authors: A
authors: Davis
authors: John
authors: J
authors: Atherton
authors: Christopher
authors: C
authors: Semsarian
mesh_terms: D001315:Australia / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006331:Heart Diseases / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D012042:Registries