Clinical and genetic analysis of pediatric catecholaminergic polymorphic ventricular tachycardia: focus on sinus bradycardia and neurodevelopmental disorders

Expand on the clinical significance of sinus bradycardia and neurodevelopmental disorders in CPVT management.

Incorporate information on the genetic mutations associated with CPVT and their clinical implications.

Characteristic	Value
Median Age of Onset	7.7 years
Longest Diagnostic Delay	8 years
Patients with Syncope	5
Patients with Palpitations	1
Patients with Cardiac Arrest	1
Patients with Sinus Bradycardia	1
Patients with NDDs	2

CPVT typically presents with exercise-induced arrhythmias, with a median onset age of 7.7 years.
Sinus bradycardia was noted in one patient, complicating management and necessitating an implantable cardioverter-defibrillator (ICD).
Two patients had comorbid neurodevelopmental disorders, indicating a high-risk subgroup.
Four patients had pathogenic variants in the RYR2 gene, including two novel variants.
After a mean follow-up of 1.4 years, five patients remained free of syncope, while one patient with an RYR2 variant died suddenly.

Highlight the importance of genetic counseling for families of affected patients.

Stress the necessity of early diagnosis and tailored management for patients with complex presentations.

Clinical Report: Genetic and Clinical Insights into Pediatric CPVT