Heart, Lung and Circulation
Volume 17, Issue 6 , Pages 463-467 , December 2008

Establishment of an Australian National Genetic Heart Disease Registry

  • Jodie Ingles

      Affiliations

    • Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia
    • Department of Cardiology, Royal Brisbane and Women's Hospital, Brisbane, Australia
    • ,
  • Julie McGaughran

      Affiliations

    • Genetic Health QLD, Royal Children's Hospital, Brisbane, Australia
    • Department of Medicine, University of Queensland, Brisbane, Australia
    • ,
  • Jitendra Vohra

      Affiliations

    • Department of Cardiology, Royal Melbourne Hospital, Melbourne, Australia
    • ,
  • Robert G. Weintraub

      Affiliations

    • Department of Cardiology, Royal Children's Hospital, Melbourne, Australia
    • ,
  • Andrew Davis

      Affiliations

    • Department of Cardiology, Royal Children's Hospital, Melbourne, Australia
    • ,
  • John Atherton

      Affiliations

    • Department of Cardiology, Royal Brisbane and Women's Hospital, Brisbane, Australia
    • Department of Medicine, University of Queensland, Brisbane, Australia
    • ,
  • Christopher Semsarian

      Affiliations

    • Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia
    • Central Clinical School, University of Sydney, Australia
    • Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia
    • Corresponding Author InformationCorresponding author at: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag 6, Newtown, NSW 2042, Australia. Tel.: +61 2 9565 6195; fax: +61 2 9565 6101.

Received 17 December 2007 ,Revised 3 April 2008 ,Accepted 7 May 2008.

References 

  1. Moss A, Schwartz P. 25th anniversary of the International Long-QT Syndrome Registry: an ongoing quest to uncover the secrets of long-QT syndrome. Circulation. 2005;111(9):1199–1201
  2. Basso C, Wichter T, Danieli G, Corrado D, Czarnowska E, Fontaine G, et al. Arrhythmogenic right ventricular cardiomyopathy: clinical registry and database, evaluation of therapies, pathology registry, DNA banking. Eur Heart J. 2004;25:531–535
  3. Cecchi F, Olivotto I, Betocchi S, Rapezzi C, Conte M, Sinagra G, et al. The Italian Registry for hypertrophic cardiomyopathy: a nationwide survey. Am Heart J. 2005;150:947–954
  4. Milewicz D, Seidman C. Genetics of cardiovascular disease. Circulation. 2000;102(20):103–111
  5. Lind J, Chiu C, Semsarian C. Genetic basis of hypertrophic cardiomyopathy. Exp Rev Cardiovasc Ther. 2006;4(6):927–934
  6. Maron B. Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002;287:1308–1320
  7. Doolan A, Langlois N, Chiu C, Ingles J, Lind J, Semsarian C. Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians. Int J Cardiol. 2007;[Epub ahead of print]
  8. Doolan A, Langlois N, Semsarian C. Causes of sudden cardiac death in young Australians. Med J Aust. 2004;180(3):110–112
  9. Jayatilleke I, Doolan A, Ingles J, McGuire M, Booth V, Richmond D, et al. Long-term follow-up of implantable cardioverter-defibrillator therapy for hypertrophic cardiomyopathy. Am J Cardiol. 2004;93(9):1192–1194
  10. Maron B, Spirito P, Shen W, Haas T, Formisano F, Link M, et al. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA. 2007;298(4):405–412
  11. Vohra J. The long QT syndrome. Heart Lung Circ. 2007;16(3):S5–12
  12. Ingles J, Semsarian C. Sudden cardiac death in the young: a clinical genetic approach. Int Med J. 2007;37(1):32–37
  13. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005;42(10):e59
  14. Westenskow P, Splawski I, Timothy K, Keating M, Sanguinettic M. Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004;109:1834–1841
  15. Cordeiro J, Barajas-Martinez H, Hong K, Burashnikov E, Pfeiffer R, Orsino A, et al. Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation. 2006;114(19):2026–2033
  16. NHMRC. Guidelines for Genetic Registers and Associated Genetic Material, 2000.

PII: S1443-9506(08)00812-3

doi: 10.1016/j.hlc.2008.05.603

Heart, Lung and Circulation
Volume 17, Issue 6 , Pages 463-467 , December 2008

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