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Genetics of sudden cardiac death in children and young athletes

Published online by Cambridge University Press:  24 July 2012

Georgia Sarquella-Brugada ,
Oscar Campuzano ,
Anna Iglesias ,
Josep Sánchez-Malagón ,
Myriam Guerra-Balic ,
Josep Brugada  and
Ramon Brugada
Georgia Sarquella-Brugada
Affiliation:
Arrhythmia Unit, Cardiology Section, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain
Oscar Campuzano
Affiliation:
Cardiovascular Genetics Center, University of Girona, Girona, Spain
Anna Iglesias
Affiliation:
Cardiovascular Genetics Center, University of Girona, Girona, Spain
Josep Sánchez-Malagón
Affiliation:
Sport Science Department, Psychology School, University Ramon Llull, Barcelona, Spain
Myriam Guerra-Balic
Affiliation:
Sport Science Department, Psychology School, University Ramon Llull, Barcelona, Spain
Josep Brugada
Affiliation:
Arrhythmia Unit, Cardiology Section, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain Unit of Arrhythmias, Hospital Clinic de Barcelona, University of Barcelona, Barcelona, Spain
Ramon Brugada*
Affiliation:
Cardiovascular Genetics Center, University of Girona, Girona, Spain
*
Correspondence to: Dr R. Brugada, MD, PhD, FACC, FESC, School of Medicine, Cardiovascular Genetics Center, UdG-IdIBGi, University of Girona, Girona, Spain. Tel: +34 972 183366; Fax: +34 972 183367; E-mail: [email protected]
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Abstract

Sudden cardiac death is a rare but socially devastating event. The most common causes of sudden cardiac death are congenital electrical disorders and structural heart diseases. The majority of these diseases have an incomplete penetrance and variable expression; therefore, patients may be unaware of their illness. In several cases, physical activity can be the trigger for sudden cardiac death as first symptom. Our purpose is to review the causes of sudden cardiac death in sportive children and young adults and its genetic background. Symptomatic individuals often receive an implantable cardioverter-defibrillator, the preventive treatment for sudden cardiac death in most of cases due to channelopathies, which can become a challenging option in young and active patients. The identification of one of these diseases in asymptomatic patients has similarly a great impact on their everyday life, especially on their ability to undertake competitive physical activities, and the requirement of prophylactic treatment. We review main causes of sudden cardiac death in relation to its genetics and diagnostic work-up.

Keywords

Cardiologysudden deathgeneticsinfantadolescentexercise
Type
Review Article
Information
Cardiology in the Young , Volume 23 , Issue 2 , April 2013 , pp. 159 - 173
Copyright
Copyright © Cambridge University Press 2012 

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Footnotes

*

Both authors have contributed equally.

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