Mutations in the Cardiac Ryanodine Receptor Gene ( hRyR2 ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
Key result
Novel hRyR2 missense mutations are linked to catecholaminergic polymorphic ventricular tachycardia in ~33% of probands.
- n=12
Why the study?
Catecholaminergic polymorphic ventricular tachycardia is a genetic arrhythmogenic disorder suspected to be caused by abnormalities in intracellular calcium handling involving the cardiac ryanodine receptor gene (hRyR2).
Comparison
Genetic analysis of hRyR2 gene mutations in affected versus unaffected individuals
Design
Observational genetic case series
Authors
Discussion
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Implication
Suggests hRyR2 variants may underlie CPVT; leaves open validation before clinical genetic testing.
Study Design
Type
Observational (n=12)
Multicenter
Yes
Structured PICO
P
Population
12 probands presenting with typical catecholaminergic polymorphic ventricular tachycardia in the absence of structural heart abnormalities, along with their family members and 400 healthy controls.
E
Exposure
Genetic analysis of the human cardiac ryanodine receptor gene (hRyR2)
O
Outcome
Identification of mutations in the hRyR2 genesurrogate
This study provides early evidence that mutations in the cardiac ryanodine receptor gene (hRyR2) are a genetic cause of catecholaminergic polymorphic ventricular tachycardia.
Limitations
- Mutations were identified in only 4 of 12 probands, which may be due to incomplete screening of the large gene, incomplete sensitivity of the screening techniques, or genetic heterogeneity.
Cite This Study
Priori et al. (2001) conducted an observational in Catecholaminergic polymorphic ventricular tachycardia (n=12). hRyR2 gene mutations vs. Healthy controls and unaffected family members was evaluated on Presence of hRyR2 missense mutations. Missense mutations in the cardiac ryanodine receptor gene (hRyR2) were identified in 4 of 12 probands with catecholaminergic polymorphic ventricular tachycardia and were absent in 400 healthy controls.