Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Recurrent syncope in children can indicate serious underlying cardiac conditions.
• Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder affecting heart rhythm.
• Early diagnosis and management are crucial for preventing life-threatening events.

Observation:

• An 11-year-old boy experienced recurrent syncope, culminating in cardiac arrest during swimming.
• The patient survived after resuscitation and received an implantable cardioverter-defibrillator.
• Genetic testing revealed a mutation in the ryanodine receptor 2, confirming CPVT.

Findings:

• The patient was diagnosed with CPVT due to a confirmed ryanodine receptor 2 mutation.
• The boy's father carried the same mutation but remained asymptomatic.
• This case underscores the variable penetrance of genetic cardiac conditions.

Implications:

• CPVT should be considered in the differential diagnosis for children presenting with recurrent syncope.
• Genetic screening can identify at-risk family members, even if asymptomatic.
• Timely diagnosis and intervention can prevent sudden cardiac death in pediatric patients.