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Short QT syndrome in pediatrics

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Abstract

Short QT syndrome is a malignant cardiac disease characterized by the presence of ventricular tachyarrhythmias leading to syncope and sudden cardiac death. Currently, international guidelines establish diagnostic criteria when QTc is below 340 ms. This entity is one of the main diseases responsible for sudden cardiac death in the pediatric population. In recent years, clinical, genetic and molecular advances in pathophysiological mechanisms related to short QT syndrome have improved diagnosis, risk stratification, and preventive measures. Despite these advances, automatic implantable cardiac defibrillator remains the most effective measure. Currently, six genes have been associated with short QT syndrome, which account for nearly 60% of clinically diagnosed families. Here, we review the main clinical hallmarks of the disease, focusing on the pediatric population.

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Acknowledgements

We will thank the support of Daniel Bravo Andreu Foundation and La Caixa foundation.

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Authors and Affiliations

  1. Cardiovascular Genetics Center, Gencardio, Institut Investigació Biomèdica de Girona (IDIBGI), C/ Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), 17290, Salt, Girona, Spain

    Roberta Pereira, Oscar Campuzano, Anna Iglesias & Ramon Brugada

  2. Arrhythmia Service, Instituto Nacional de Cardiologia, Rio de Janeiro, Brazil

    Roberta Pereira & Fernando E. S. Cruz Filho

  3. Medical Science Department, School of Medicine, Girona, Spain

    Oscar Campuzano & Ramon Brugada

  4. Unit of Arrhythmias, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain

    Georgia Sarquella-Brugada, Sergi Cesar & Josep Brugada

  5. Cardiomyopathies Unit, Hospital Josep Trueta, Girona, Spain

    Ramon Brugada

Authors
  1. Roberta Pereira
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  2. Oscar Campuzano
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  3. Georgia Sarquella-Brugada
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  7. Fernando E. S. Cruz Filho
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  8. Ramon Brugada
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Correspondence to Ramon Brugada.

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R. Pereira and O. Campuzano equally contributed.

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Pereira, R., Campuzano, O., Sarquella-Brugada, G. et al. Short QT syndrome in pediatrics. Clin Res Cardiol 106, 393–400 (2017). https://doi.org/10.1007/s00392-017-1094-1

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  • DOI: https://doi.org/10.1007/s00392-017-1094-1

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