Journal article

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups

Alban-Elouen Baruteau, Florence Kyndt, Elijah R Behr, Arja S Vink, Matthias Lachaud, Anna Joong, Jean-Jacques Schott, Minoru Horie, Isabelle Denjoy, Lia Crotti, Wataru Shimizu, Johan M Bos, Elizabeth A Stephenson, Leonie Wong, Dominic J Abrams, Andrew M Davis, Annika Winbo, Anne M Dubin, Shubhayan Sanatani, Leonardo Liberman Show all



Aims: To clarify the clinical characteristics and outcomes of children with SCN5A-mediated disease and to improve their risk stratification. Methods and results: A multicentre, international, retrospective cohort study was conducted in 25 tertiary hospitals in 13 countries between 1990 and 2015. All patients ≤16 years of age diagnosed with a genetically confirmed SCN5A mutation were included in the analysis. There was no restriction made based on their clinical diagnosis. A total of 442 children {55.7% boys, 40.3% probands, median age: 8.0 [interquartile range (IQR) 9.5] years} from 350 families were included; 67.9% were asymptomatic at diagnosis. Four main phenotypes were identified: isolat..

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Funding Acknowledgements

French Society of Cardiology (to A.-E.B.) a research grant the Foundation Bettencourt-Schueller (to A.-E.B.) and by research funds from Cardiac Risk in the Young (to A.-E.B., L.W., and E.R.B.); by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London (to J.P.K.); by the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program (to M.J.A.); by the Netherlands CardioVascular Research Initiative: the Dutch Heart Foundation, Dutch Federation of University Medical Centres, the Netherlands Organisation for Health Research and Development, and the Royal Netherlands Academy of Sciences (CVON Predict to A.A.W.).