Cardiology in the Young

Review Article

Genetics of sudden cardiac death in children and young athletes

Georgia Sarquella-Brugadaa1 *, Oscar Campuzanoa2 *, Anna Iglesiasa2, Josep Sánchez-Malagóna3, Myriam Guerra-Balica3, Josep Brugadaa1a4 and Ramon Brugadaa2 c1

a1 Arrhythmia Unit, Cardiology Section, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain

a2 Cardiovascular Genetics Center, University of Girona, Girona, Spain

a3 Sport Science Department, Psychology School, University Ramon Llull, Barcelona, Spain

a4 Unit of Arrhythmias, Hospital Clinic de Barcelona, University of Barcelona, Barcelona, Spain

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.

(Received November 30 2011)

(Accepted June 23 2012)

(Online publication July 24 2012)

Keywords

  • Cardiology;
  • sudden death;
  • genetics;
  • infant;
  • adolescent;
  • exercise

Correspondence

c1 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: ramon@brugada.org

Footnotes

*  Both authors have contributed equally.