Screening, diagnosis and follow-up of Brugada syndrome in children: a Dutch expert consensus statement

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Brugada syndrome (BrS) is a rare inherited arrhythmia syndrome affecting children, with symptoms often triggered by fever.
• A higher prevalence of SCN5A variants is observed in affected children compared to adults.
• Current diagnostic and follow-up protocols for pediatric BrS and related family histories exhibit significant inter-center variability.

Purpose of the Study:

• To establish a standardized approach for diagnosing and managing BrS in children and families with BrS history in the Netherlands.
• To provide expert consensus on diagnostic criteria, genetic testing, and therapeutic interventions for pediatric BrS.

Main Methods:

• Literature review and expert opinion synthesis to formulate consensus guidelines.
• Defined diagnostic criteria including spontaneous Type 1 ECG or Shanghai score ≥ 3.5 with ECG findings.
• Recommendations for fever ECGs, genetic testing (SCN5A), drug avoidance, fever suppression, and treatment of arrhythmias.

Main Results:

• BrS diagnosis established by Type 1 ECG or Shanghai score ≥ 3.5 with ECG findings.
• Sodium channel blocker challenge tests recommended post-puberty, with limited exceptions.
• Fever ECGs are indicated for suspected BrS, specific family history with SCN5A variants, and pediatric SCN5A carriers.

Conclusions:

• Standardized diagnostic and management strategies are crucial for pediatric Brugada syndrome.
• Genetic testing should be limited to SCN5A, and specific medications and fever should be avoided in affected children.
• Isoproterenol infusion is recommended for treating ventricular arrhythmias or electrical storms in pediatric BrS.