Índice

• • ·Title

    Página :i

    

• Abstracts for the International Clinical Cardiovascular Genetics Conference

  • ·Targeted next generation sequencing identifies likely-pathogenic variants in families with strong histories of CHD

    Página :e1

    G. Blue, E. Kirk, G. Sholler, D. Winlaw

    
  • ·Queensland Cardiac Genetics Clinic

    Página :e1

    L. Hunt, J. Atherton, J. McGaughran

    
  • ·Identifying the genetic cause of DCM in a zebrafish mutant

    Página :e2

    I. Martin, A. Jacoby, K. Smith, J. Berger, G. Trivedi, D. Fatkin

    
  • ·Targeted oligonucleotide-selective sequencing of 101 genes from 150 patients with idiopathic dilated cardiomyopathy in Finland

    Página :e2

    T. Alastalo, O. Akinrinade, L. Ollila, S. Myllykangas, H. Koillinen, M. Kaartinen, T. Ojala, J. Koskenvuo, T. Heliö

    
  • ·Long term enzyme replacement therapy for Fabry disease: Effectiveness on heart, kidney and brain

    Página :e2

    G. Cabrera, J. Politei, N. Antongiovani, H. Amartino

    
  • ·Molecular autopsy for sudden cardiac death - outcome of a practical approach

    Página :e3

    J. Dean, F. Cann, M. Corbett, D. O'Sullivan, S. Tennant, H. Hailey, R. Rankin, P. Brown, P. Broadhurst, J. Grieve

    
  • ·Elevated Lipoprotein (a) level is more predictive of coronary atheroma burden than family history in intermediate and high risk- implications for screening algorithms

    Página :e3

    M. Legget, C. Edwards, N. Van Pelt, R. Gabriel, J. Ormiston, J. Christiansen, R. Young, R. Doughty, G. Gamble, C. Ellis

    
  • ·Cardiac genetic testing in South Australia 2008-2013

    Página :e4

    D. Mordaunt, G. Correnti, E. Haan

    
  • ·Development of the New Zealand cardiac inherited disease registry

    Página :e4

    J. Skinner, J. Crawford, K. Waddell-Smith, N. Earle, T. Donoghue, M. Graham, I. Hayes, M. Stiles, W. Smith, D. Love

    
  • ·Timothy syndrome type 2 associated CACNA1C G402S mutation in a teenage girl with idiopathic ventricular fibrillation

    Página :e4

    J. Tallila, A. Hiippala, S. Myllykangas, T. Alastalo, J. Koskenvuo

    
  • ·Oligonucleotide-selective sequencing for genetic diagnostics of pulmonary arterial hypertension

    Página :e5

    J. Koskenvuo, J. Tallila, S. Myllykangas, T. Alastalo

    
  • ·Illumina TruSight Cardiomyopathy Sequencing Panel: Application to hypertrophic cardiomyopathy

    Página :e5

    R. Bagnall, J. Ingles, C. Semsarian

    
  • ·Characterisation of potential splicing mutations in the LDLR gene and development of a functional pre-mRNA screening test

    Página :e5

    V. Bickley, A. Laurie, R. King, N. Reid, P. George

    
  • ·Cases of mitogenic cardiomyopathy in the United Kingdom

    Página :e6

    T. Bueser, S. Holder, A. Collins, A. Bowron, M. Malone, M. Ashworth, G. Carr-White, L. Robert

    
  • ·Cardiac health professionals’ attitudes towards genetic testing for hereditary causes of cardiovascular disease

    Página :e6

    S. Burcher, Y. Berman, L. Burnett, A. Proos, R. Clifton-Bligh, T. Dwight

    
  • ·Access, uptake and communication of genetic test results in Australian families with long QT syndrome (LQTS)

    Página :e7

    C. Burns, C. Semsarian, J. Ingles

    
  • ·Cardiovascular involvement in a large cohort of Argentinean Fabry patients. Correlation with cardiovascular risk factors

    Página :e7

    G. Cabrera, J. Politei, N. Antongiovani, H. Amartino, R. Valdez, A. Fainboin, A. Fernández, R. Heguilen

    
  • ·Late diagnosis of Fabry disease in middle-aged men with left ventricular hypertrophy and heart failure

    Página :e7

    W. Chan, M. Brown, C. Denaro, D. Platts, M. Pincus, G. Javorsky, S. McKenzie

    
  • ·Variants of unknown significance: Adding trauma to trauma. A case study of sudden unexplained death in a child

    Página :e8

    F. Cunningham, I. Macciocca, P. James, M. Hunter

    
  • ·Clinical and genetic characteristics of hypertrophic cardiomyopathy patients with end-stage disease: A registry-based study

    Página :e8

    E. Driscoll, J. Ingles, C. Semsarian

    
  • ·Risk of sudden cardiac death following acute coronary syndromes: Interplay of single nucleotide polymorphisms and the presence of heart failure

    Página :e9

    N. Earle, K. Poppe, V. Cameron, A. Pilbrow, R. Troughton, J. Skinner, D. Love, A. Shelling, M. Richards, R. Doughty

    
  • ·The prevalence of emerging genotypic risk factors in patients with long QT syndrome

    Página :e9

    N. Earle, W. Smith, J. Crawford, D. Love, I. Hayes, M. Graham, T. Donoghue, M. Hood, M. Stiles, J. Skinner

    
  • ·Adjustment to a diagnosis of Homozygous Familial Hypercholesterolaemia and decision making regarding therapy in two unrelated families

    Página :e9

    L. Freeman, D. Sullivan, L. Molloy, S. Srinivasan, N. Perera

    
  • ·myProbesTM powered by cytocell-development of Fast FISH 22q11.2 gene deletion testing for paediatric cardiac patients

    Página :e10

    K. Gough

    
  • ·Hypertrophic Cardiomyopathy with rare Arg442Cys mutation in MHY7 with marked phenotypic expression

    Página :e10

    C. Hamilton-Craig, W. Strugnell, H. Haqqani, T. Dudding-Blyth

    
  • ·Co-existence of left ventricular non-compaction and polycystic kidney disease - more than just a coincidence?

    Página :e11

    J. Hanna, S. Chan, J. Neill, C. Hamilton-Craig, M. West

    
  • ·Dilated cardiomyopathy - three brothers and a BAG3 mutation

    Página :e11

    L. Hunt, J. Atherton, J. McGaughran

    
  • ·Truncating Titin mutations: Are they a primary cause of dilated cardiomyopathy or a susceptibility factor?

    Página :e11

    R. Johnson, K. Stockhammer, M. Soka, M. Ohanian, L. Lam, D. Fatkin

    
  • ·Use of a murine Advanced Intercross Line combined with whole genome sequencing and transcriptome analysis confirms previously discovered QTL and identifies candidate genetic loci for cardiac atrial septal morphology

    Página :e12

    E. Kirk, M. Moradi Marjaneh, P. Thomson, T. Doan, I. Martin, C. Moran, R. Harvey

    
  • ·Health literacy, genetic literacy and outcomes in patients with genetic cardiac disease: A review of the literature

    Página :e12

    J. Marathe, K. Ogden, J. Woodroffe

    
  • ·Directing patients to reliable web-based information about genetic cardiac diseases: An example using the HONCode

    Página :e12

    J. Marathe, J. Woodroffe, K. Ogden

    
  • ·Knowledge and perceptions of genetic cardiac disease amongst general practitioners: The Tasmanian experience

    Página :e13

    J. Marathe, J. Woodroffe, K. Ogden

    
  • ·Long QT gene testing in autopsy-negative sudden death in the young: Influence of age and gender on diagnostic yield

    Página :e13

    L. Marcondes, J. Crawford, N. Earle, W. Smith, T. Donoghue, D. Love, M. Graham, P. Morrow, J. Skinner

    
  • ·In-vivo characterisation and mutation screening of the cardiac two-pore potassium channel, TWIK-1

    Página :e14

    I. Martin, A. Christensen, M. Soka, D. Fatkin

    
  • ·The RPAH experience of improving resources for informing and evaluating cascade screening in Familial Hypercholesterolaemia

    Página :e14

    L. Molloy, L. Freeman, G. Williams, K. Dunlop, D. Sullivan

    
  • ·ECG risk score: A powerful predictor of sudden death in hypertrophic cardiomyopathy - genotype correlates

    Página :e14

    I. Ostman-Smith

    
  • ·Consanguinity genetics in a forensic setting

    Página :e15

    S. Parsons, N. Morgan

    
  • ·The coroner can help - a case report highlighting the importance of genetic referral following the autopsy diagnosis of premature coronary artery disease

    Página :e15

    N. Poplawski

    
  • ·The ‘virtual’ genetic heart disease clinic - a model for emerging services

    Página :e15

    A. Ronan, A. Ingrey, C. Meldrum, A. Cala, J. Vuletic, J. Silberberg

    
  • ·An audit of cardiac genetic testing costs in a regional genetics unit

    Página :e16

    Ronan A, Lawler R, Ingrey A

    
  • ·The genetic post mortem: Issues and successes in a regional genetics unit

    Página :e16

    A. Ronan, C. Botfield, A. Ingrey, J. Vuletic, A. Cala

    
  • ·Mutation spectrum in PKP2 and DSG2 genes in Russian patients with arrhythmogenic right ventricular cardiomyopathy

    Página :e16

    A. Shestak, O. Blagova, S. Dzemeshkevich, E. Zaklyazminskaya

    
  • ·A large-scale phenotype-to-genotype screen identifies regulators of cardiac development and function

    Página :e17

    K. Smith, S. Paterson, S. Capon, J. De Angelis, D. Grassini, A. Lagendijk, G. Bailey, C. Simons, R. Taft, B. Hogan

    
  • ·A rare case of malignant Long QT syndrome due to a mutation in ANK2 (LQTS4)

    Página :e17

    J. Taylor, T. Thompson, J. Vohra, P. James

    
  • ·Role of the specialist nurse in the cardiac genetics clinic

    Página :e17

    T. Thompson, N. Morgan, I. Winship, V. Connell

    
  • ·Identification of high risk long QT syndrome patients using mean Holter QTc

    Página :e18

    K. Waddell-Smith, J. Li, H. Hinds, J. Crawford, J. Skinner

    
  • ·The inpatient cardiology visit: Missing the opportunity to detect inherited heart conditions

    Página :e18

    K. Waddell-Smith, T. Donoghue, M. Graham, S. Oates, J. Crawford, J. Li, J. Skinner

    
  • ·Genetic testing for monogenic cardiac disorders in minors: Review of all minors referred to a cardiac genetics service over a 5 year period

    Página :e19

    M. Wallis, L. Hunt, J. Atherton, S. Stathis, J. McGaughran

    
  • ·Analysis of gene-gene interactions among common variants in coronary artery disease

    Página :e19

    M. Musameh, W. Wang, C. Nelson, C. Lluís-Ganella, I. Subirana, R. Elosua, A. Hall, S. Kathiresan, N. Samani, M. Tomaszewski

    
  • ·Sixteen years experience of genetic counselling in channelopathies in Russia

    Página :e19

    E. Zaklyazminskaya, M. Polyak

    
  • ·Different types of cardiac remodelling and extra-cardiac complications caused by SCN5A mutations

    Página :e20

    E. Zaklyazminskaya, A. Shestak, A. Revishvili, A. Chapunykh, T. Voronina, Dzemeshkevich S