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Genetics of sudden cardiac death in children and young athletes

Georgia Sarquella-Brugada1, Oscar Campuzano, Anna Iglesias

  • 1Arrhythmia Unit, Cardiology Section, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain. ramon@brugada.org

Cardiology in the Young
|July 25, 2012
PubMed

Insights

Sudden cardiac death in young athletes is often caused by genetic heart conditions. Early diagnosis and management are crucial to prevent fatal outcomes, especially during physical activity.

Area of Science:

  • Cardiology
  • Genetics
  • Sports Medicine

Background:

  • Sudden cardiac death (SCD) is a rare but devastating event, frequently caused by undiagnosed congenital electrical or structural heart diseases.
  • These genetic conditions often exhibit incomplete penetrance and variable expression, leaving many individuals unaware of their risk.
  • Physical activity can act as a trigger for SCD, presenting as the first symptom in affected individuals.

Purpose of the Study:

  • To review the primary causes of sudden cardiac death in children and young adults involved in sports.
  • To explore the genetic underpinnings of these conditions.
  • To discuss the diagnostic work-up for at-risk individuals.

Main Methods:

  • Review of existing literature on SCD in young athletes.
  • Analysis of genetic factors contributing to cardiac disorders.
  • Discussion of diagnostic strategies and management options.

Main Results:

  • Congenital electrical disorders (channelopathies) and structural heart diseases are leading causes of SCD in young athletes.
  • Genetic predisposition plays a significant role in the development of these conditions.
  • Identifying these diseases impacts lifestyle choices and necessitates prophylactic treatment.

Conclusions:

  • Understanding the genetic basis of heart diseases in athletes is vital for prevention.
  • Early diagnosis through comprehensive screening is essential.
  • Management strategies, including implantable cardioverter-defibrillators, require careful consideration in active young patients.

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