Sommario

• • ·Title Page

    Pagina :i

    
• • ·Contents Page

    Pagina :ii

    

• International Clinical Cardiovascular Genetics Conference 2024: Brisbane Convention and Exhibition Centre, QLD, Australia, 8-10th May 2024

  • ·Tiered Analysis of Australian Genomics Cardiovascular Genetic Disorders Flagship Genomes Increases the Diagnostic Yield of Genetic Testing

    Pagina :S95

    Y. Chang, E. Rath, E. Singer, G. Trivedi, M. Soka, I. Macciocca, J. Ingles, C. Semsarian, J. McGaughran, D. Fatkin, E. Giannoulatou, R. Bagnall

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  • ·A Validated SCN5A Functional Assay to Adjudicate Variants of Uncertain Significance from the International Brugada Syndrome Genetics Consortia

    Pagina :S96

    J. Ma, M. O’Neill, E. Richardson, J. Ingles, K. Thomson, J. Solus, G. Harvey, P. Robertson, C. Bezzina, D. Roden, R. Walsh, J. Vandenberg, A. Glazer, C. Ng

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  • ·Polygenic Risk, Aspirin and the Primary Prevention of Cardiovascular Disease

    Pagina :S96

    C. Yu, P. Lacaze

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  • ·Genetic Landscape of Cardiovascular Disease in the United Arab Emirates

    Pagina :S96

    G. Almansoori, M. Shehata, F. AlJasmi, N. Akawi

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  • ·Identification of Four Pathogenic Variants Associated with Marafan and Marafan-Like Syndromes in Four Different Families By Whole Exome Sequencing

    Pagina :S97

    G. Almansoori, M. Shehata, M. Irshid, N. Akawi

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  • ·Functional Analysis of an FHOD3 Founder Variant Causing Hypertrophic Cardiomyopathy in the Balkans Population

    Pagina :S97

    R. Bagnall, S. Li, G. Ranpura, M. Holliday, B. Hanna, J. Ingles, S. Kumar, C. Semsarian, S. Lim

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  • ·The Use of Social and Media Advertisement in Direct-to-Participant Recruitment: NSW HEARTS Inherited Cardiomyopathy Cohort Study

    Pagina :S98

    A. Baker, L. Catto, N. Stewart, S. Hespe, J. Do, L. Yeates, F. Stafford, N. Krishnan, J. Brown, J. Sweeting, NSW HEARTS Investigators, A. Butters, J. Ingles

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  • ·Prenatal and Maternal Contributors to Disease Severity in Congenital Heart Disease

    Pagina :S98

    G. Blue, M. Nishide, D. Hilton, G. Sholler, D. Winlaw, S. Dunwoodie, N. Nassar, S. Lain

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  • ·A Rare Splice-Site Variant in Cardiac Troponin-T (TNNT2): The Need for Ancestral Diversity in Genomic Reference Datasets

    Pagina :S99

    A. Butters, K. Thomson, F. Harrington, N. Henden, K. McGuire, A. Byrne, S. Bryen, M. Leask, M. Ackerman, J. Atherton, J. Bos, C. Caleshu, V. Parikh, D. Sharlene, J. Tardiff, K. Dunn, I. Hayes, J. Juang, J. McGaughran, N. Nowak, A. Ronan, C. Semsarian, M. Tiemensma, T. Merriman, J. Skinner, D. MacArthur, O. Siggs, R. Bagnall, J. Ingles

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  • ·NSW HEARTS: The NSW Inherited Cardiomyopathy Cohort Study—Clinical and Demographic Characteristics of Participant to Date

    Pagina :S100

    L. Catto, A. Baker, N. Stewart, S. Hespe, J. Do, L. Yeates, F. Stafford, N. Krishnan, J. Brown, J. Sweeting, NSW HEARTS Investigators, A. Butters, J. Ingles

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  • ·The Clinical and Genetic Characteristics and Long Term Follow Up of Survivors of Sudden Cardiac Arrest in a Tertiary Hospital

    Pagina :S100

    L. Cheung

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  • ·Australian Healthcare Professionals are Interested in Using Genetics to Inform Personalised Nutrition Intervention for Their Patients Living With Cardiovascular Disease

    Pagina :S102

    E. Clarke, W. Reay, K. Brain, J. Stanford, M. Gomez Martin, M. Cairns, C. Collins

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  • ·The Benefits and Challenges of Implementing MBS Items for Cardiac Testing

    Pagina :S102

    K. Cox, K. Waddell-Smith, N. Poplawski, K. Bernatowicz, G. Correnti, M. Fine, K. Friend

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  • ·Study Protocol for Follow Up of Survivors of Young Sudden Cardiac Arrest in Victoria With Regard to All-Cause Mortality, Implantable Cardioverter Defibrillator Insertion and Detection of Ventricular Arrhythmia

    Pagina :S103

    L. Fahy, S. Rowe, Z. Nehme, D. Stub, A. Pflaumer, V. Connell, C. Semsarian, J. Ingles, A. La Gerche, E. Paratz

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  • ·Survivability of Young Sudden Cardiac Arrest by Aetiology: Insights From a State-Wide Adjudicated Cardiac Arrest Registry

    Pagina :S103

    L. Fahy, S. Rowe, Z. Nehme, D. Stub, A. Pflaumer, V. Connell, C. Semsarian, J. Ingles, A. La Gerche, E. Paratz

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  • ·Incremental Value in Genetic Testing for Athletes Attending a Specialised Sports Cardiology Clinic

    Pagina :S104

    J. Follett, A. Dind, C. Burns, B. Gray

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  • ·Rare Genetic Variants in Heart Failure with Preserved Ejection Fraction (HFpEF)

    Pagina :S104

    N. Gorrie, R. Johnson, M. Ohanian, M. Soka, N. Bart, D. Fatkin

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  • ·Development and Outcomes of a Multidisciplinary Inherited Cardiac Clinic in Western Australia

    Pagina :S105

    C. Greer, E. Stackpoole, H. Mountain, A. Shah, R. D'Souza, N. Pachter, V. Pater

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  • ·Evaluating the Cost-Effectiveness of Screening for Atrial Fibrillation Based on the Screening Preferences of Healthcare Professionals in Australia

    Pagina :S105

    U. Halahakone, S. Senanayake, V. McCreanor, W. Parsonage, D. Brain

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  • ·Health Professionals’ Preferences of Screening for Atrial Fibrillation in Primary Care—A Discrete Choice Analysis

    Pagina :S106

    U. Halahakone, S. Senanayake, V. McCreanor, W. Parsonage, D. Brain

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  • ·Dissecting the Role of Hopx Variants in Cardiac Remodelling and Dysfunction

    Pagina :S106

    A. Hanna, S. Negi, J. Outhwaite, T. Cheng, C. Tan, J. Chen, D. Fatkin, J. Haas, N. Palpant

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  • ·Limitations of Whole Exome Sequencing Panels: Subsequent Identification of a Missed Pathogenic Large Deletion in Desmoplakin (DSP)

    Pagina :S107

    H. Haqqani, A. Rutstein, A. Dane

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  • ·This abstract has been withdrawn.

    Pagina :S107

    
  • ·The Experiences, Values and Goals of Patients in Australia Living with Obstructive Hypertrophic Cardiomyopathy: In-Depth Patient Interviews

    Pagina :S107

    S. Fifer, A. Pendleton, J. Ingles, J. Godsell, Y. Zhong, T. Krause

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  • ·Validating Institutional Coding for Paediatric Hypertrophic Cardiomyopathy—A Single Centre Study

    Pagina :S108

    G. Scarfe, K. Robinson, L. Dengler, H. Asakai, C. Turner, J. Skinner, C. Lawley

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  • ·Young Sudden Cardiac Arrest in New South Wales: A Data Linkage Study

    Pagina :S109

    F. Leslie, J. Sweeting, S. Faddy, J. Bendall, L. Nedkoff, S. Avis, A. Butters, L. Yeates, M. Dennis, C. Lawley, E. Paratz, NSW SCA Registry Investigators, J. Ingles

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  • ·Developing a Model of Incomplete Penetrance in Arrhythmogenic Cardiomyopathy Using Patient-Derived Induced Pluripotent Stem Cells

    Pagina :S109

    S. Li, M. Fox, S. Ross, M. Holliday, R. Bagnall, S. Lim, C. Semsarian

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  • ·Developing a High-Throughput Screening Platform to Understand Disease Mechanisms for Targeted Drug Therapies in Catecholaminergic Ventricular Tachycardia (CPVT)

    Pagina :S110

    S. Lim, S. Ross, M. Holliday, G. Ranpura, S. Li, R. Bagnall, A. Hill, C. Semsarian

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  • ·Initial Findings and Reflections of the Australian Genomics Cardiovascular Disorders Flagship

    Pagina :S110

    J. McGaughran, C. Semsarian, The Australian Genomics Cardiovascular Disorders Flagship

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  • ·Hypertrophic Cardiomyopathy in the Adolescent, is it the Mitochondria?

    Pagina :S111

    A. Mohammed, S. Basu, D. Anand

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  • ·Perceptions of South Asian Australians Towards Genetic Testing for Cardiovascular Disease

    Pagina :S111

    V. Nathan, D. Gilroy, R. Naresh, H. Akbar, S. Shah, T. Yanes

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  • ·Yield of Diagnostic Genetic Testing in a Multidisciplinary Genetic Heart Disease Clinic with Access to Medicare Rebatable Cardiac Testing

    Pagina :S112

    N. Nowak, L. Tan, L. Yeates, J. Ingles, B. Gray, C. Medi, H. Raju, R. Sy, M. Ryan, E. Kirk, C. Semsarian, C. Burns

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  • ·Genetic Health in Adolescents with CHD: A Population-Specific Pilot Study

    Pagina :S112

    B. O'Malley, D. Hilton, J. Smith, J. Ayer, G. Sholler, G. Blue

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  • ·The CHD Severity Classification System: Development of a Tool to Assist With Disease Stratification for CHD Research

    Pagina :S113

    B. O'Malley, G. Blue, N. Raja, G. Sholler, D. Winlaw, The Congenital Heart Disease Synergy Study Group

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  • ·Comparison of Apical and Non-Apical HCM: Clinical, Imaging, and Genetic Analysis

    Pagina :S113

    J. O'Neill, K. Chiswell, C. Burns, C. Semsarian

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  • ·A Basic Physician Trainee’s Genetic Immersion Experience in Cardiac Genetics

    Pagina :S114

    S. Plugge, J. McGaughran, C. Richmond, J. Davis

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  • ·Polygenic Informed Treatment Selection in Hypertension

    Pagina :S114

    W. Reay, E. Clarke, S. Eslick, C. Riveros, E. Holliday, M. McEvoy, R. Peel, S. Hancock, R. Scott, J. Attia, C. Collins, M. Cairns

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  • ·Growth and Development of a Paediatric Inherited Arrhythmia Clinic

    Pagina :S115

    K. Robinson, H. Asakai, C. Turner, C. Lawley, L. Dengler, G. Scarfe, J. Smith, J. Hayward, A. Morrish, J. Skinner

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  • ·Establishing an Automated Patch Clamp Assay to Assess Both Activity and Adrenergic Responses of KCNQ1 Variants

    Pagina :S115

    Q. Shen, C. Tan, C. Ng, J. Vandenberg

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  • ·Disruption of an Atypical U12-type Minor Intron in SCN5A Causes Conduction Disease and Recurrent Ventricular Fibrillation

    Pagina :S116

    E. Singer, S. Li, G. Ranpura, S. Lim, S. Fraser, J. Parker, C. Semsarian, Z. Laksman, R. Bagnall

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  • ·Cardiac Medications Causing False-Positive Illicit Drug Results

    Pagina :S116

    V. Somma, A. Ellims, A. Voskoboinik, S. Gutman, E. Paratz

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  • ·Establishing a Functional Genomics Assay to Assess Clinical Variants in CACNA1C-Related Disorders

    Pagina :S117

    C. Tan, Q. Shen, J. Vandenberg, C. Ng

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  • ·Infantile Aortopathy: Case Report and a Genetics-Focused Literature Review

    Pagina :S117

    L. Tan, A. Horton, M. Hunter

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  • ·Genetic and Other Aspects of Sudden Cardiac Death in Schizophrenia

    Pagina :S118

    T. Thompson, N. Morgan, S. Parsons, D. Zentner, I. Winship, K. Verma, B. Thompson, J. Vohra

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  • ·MYBPC3 and MYH7 Penetrance in Hypertrophic Cardiomyopathy (HCM): A Systematic Review

    Pagina :S118

    J. Tran, R. Luong, I. Macciocca, D. Zentner

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  • ·The Impact of Maternal Genetic Testing During Pregnancy on Management of Women With Inherited Cardiac Diseases: A Systematic Review

    Pagina :S119

    A. Wan, B. Wang, D. Zentner

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  • ·Genetic Screening in Patients With Suspected Heritable Thoracic Aortic Disease in Japan

    Pagina :S119

    T. Yagyu

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  • ·Development and Evaluation of a Support Intervention for Families after Sudden Cardiac Death

    Pagina :S120

    L. Yeates, A. Baker, K. Gardner, J. Do, N. Stewart, L. Catto, F. Leslie, C. Semsarian, B. Gray, A. McEwen, L. Adlard, J. Ingles

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  • ·Postmortem Genetic Testing Following Sudden Cardiac Death Using a Cardiomyopathy and Arrhythmia Next-Generation Sequencing Panel

    Pagina :S120

    E. Zilliacus, J. Hathaway, J. Huusko, M. Cicerchia, S. Ahonen, J. Tommiska, K. Gall, A. Sluyters, A. Lewis, K. Liaquat, E. Partack, V. Howell, W. Dodge, J. Djupsjöbacka, M. Muona, I. Saarinen, E. Seppälä, T. Kangas-Kontio, L. Koskinen, P. Salmenperä, S. Myllykangas, J. Koskenvuo

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