[The ICD as primary prevention. Rare indications]

Area of Science:

• Cardiology
• Genetics
• Electrophysiology

Context:

• Sudden cardiac death (SCD) is a significant concern, particularly in young, seemingly healthy individuals.
• Coronary artery disease is the most common cause of SCD overall, but genetic and electrical heart conditions are implicated in younger populations.
• Diagnoses often occur post-event or through family screening, highlighting challenges in proactive identification.

Purpose:

• To review the rare but critical causes of sudden cardiac death in young individuals.
• To discuss the spectrum of underlying genetic and electrical heart diseases.
• To emphasize the difficulties in risk stratification and treatment decisions for this cohort.

Summary:

• Young individuals experiencing sudden cardiac death (SCD) are typically diagnosed with inherited conditions such as arrhythmogenic right ventricular cardiomyopathy, hypertrophic cardiomyopathy, long/short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and early repolarization syndrome.
• Clinical presentation often involves syncope or cardiac arrest, with diagnosis sometimes occurring during family screening.
• Risk stratification is challenging, necessitating a careful balance between the risk of SCD and the potential complications of interventions like implantable cardioverter defibrillators (ICDs).

Impact:

• Highlights the importance of recognizing rare genetic and electrical heart diseases as causes of SCD in the young.
• Underscores the need for improved risk stratification tools and personalized management strategies.
• Informs clinical practice regarding the evaluation and management of young patients at risk for sudden cardiac death.