Journal article

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study

Charlotte Burns, Jodie Ingles, Andrew M Davis, Vanessa Connell, Belinda Gray, Lauren Hunt, Julie McGaughran, Christopher Semsarian



BACKGROUND: Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS. METHODS: We performed a cross-sectional study to evaluate clinical and genetic features of families with LQTS. We recruited individuals from the Australian Genetic Heart Disease Registry and Genetic Heart Disease Clinic, in Sydney, Australia, and included those with a diagnosis of LQTS according to t..

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Awarded by National Heart Foundation of Australia

Awarded by NHMRC Practitioner Fellowship

Awarded by National Heart Foundation

Funding Acknowledgements

We thank all patients and families without whom this research would not be possible. JI is the recipient of a National Health and Medical Research Council (NHMRC) and National Heart Foundation of Australia Early Career Fellowship (#1036756). CS is the recipient of an NHMRC Practitioner Fellowship (#1059156). BG is the recipient of a National Heart Foundation Ph.D. Scholarship (#100294).