Arrhythmias & electrophysiology
Intellectual and Neurodevelopmental Delays in Pediatric Catecholaminergic Polymorphic Ventricular Tachycardia: Distinct Characteristics and a More Malignant Neurocardiac Phenotype
Authors' conclusion
This study demonstrates a wider spectrum of RYR2-related disease, with a subset associated with extracardiac manifestations. Certain RYR2 variants may lead to a neurocardiac phenotype with distinct features that are important to recognize, as these patients may be at higher risk.
Study context
- Population
- Patients with RYR2-related catecholaminergic polymorphic ventricular tachycardia (CPVT) diagnosed ≤18 years (single centre and International Pediatric CPVT Registry); hypoxic ischemic insult excluded unless intellectual and neurodevelopmental delay (INDD) preceded injury
- Participants
- 168 patients
- Exposure
- CPVT with INDD vs without INDD
- INDDn = 19
- Outcome
- Prevalence of INDD in CPVT
Methodological detailssingle-centre and international registry combined review
- Single-centre and international registry combined review
Main finding
As reported in the abstract
INDD
11.3%
19
Observational data: associations, not effects.
Further findings
Age at symptom onset
P = 0.04
Atrial tachyarrhythmias
P < 0.001
Atrial tachycardia without adrenergic stimulation
P < 0.001
VT without adrenergic stimulation
P = 0.001
Cardiac structural changes or systolic dysfunction
P < 0.001
Cardiac arrest or sudden death after diagnosis
P = 0.001
RYR2 variant location
- INDD-related RYR2 variants clustered within central and channel domains; may be variant-specific
Original publication
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