The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study (Preprint)

• DOI: 10.2196/preprints.48636
• Publication Date: 2023-05-05T12:51:41Z
• Authors: Alexandra Butters; Bianca Blanch; Anna Kemp-Casey; Judy Do; Laura Yeates; Felicity Leslie; Christopher Semsa...; Lee Nedkoff; Tom Briffa; Jodie Ingles; Joanna Sweeting
• Keywords: Palpitations; Disease registry

<sec> <title>BACKGROUND</title> Genetic heart diseases such as hypertrophic cardiomyopathy can cause significant morbidity and mortality, ranging from syncope, chest pain, palpitations to failure sudden cardiac death. These are inherited in an autosomal dominant fashion, meaning family members of affected individuals have a 1 2 chance also inheriting the disease (“at-risk relatives”). The health care use patterns with genetic disease, including emergency department presentations hospital admissions, poorly understood. By linking registry data routinely collected data, we aim provide more comprehensive clinical set examine burden on individuals, families, systems. </sec> <title>OBJECTIVE</title> objective this study is link Australian Heart Disease (AGHD) Registry whole-population sets investigate their at-risk relatives. This linked will allow for investigation differences outcomes due sex, socioeconomic status, other factors. <title>METHODS</title> AGHD nationwide that began 2007 aims recruit members. In study, demographic, clinical, (available 2019) participants relatives residing New South Wales (NSW), Australia, were data. included NSW-based covering hospitalizations (2001-2019), (2005-2019), both state-wide national mortality registries (2007-2019). linkage was performed by Centre Health Record Linkage. Investigations stratifying diagnosis, age, gene status be undertaken reported using descriptive statistics. <title>RESULTS</title> NSW probabilistic matching (November 2019). Of 1720 participants, 1384 had linkages 11,610 records, 7032 60 death records. Data assessment harmonization performed, analysis underway. <title>CONCLUSIONS</title> We intend insights into relatives, frequency admissions factors status. Identifying disparities potential barriers may highlight specific needs (eg, between sexes) impacting access use. <title>INTERNATIONAL REGISTERED REPORT</title> DERR1-10.2196/48636