June 22, 2009Journal of Cardiovascular Electrophysiology
Genetic Modulation of Brugada Syndrome by a Common Polymorphism
Key result
Among Brugada syndrome patients with an SCN5A mutation, the H558R AA genotype was associated with longer QRS duration (P=0.017), higher J-point elevation (P=0.013), and higher aVR sign (P=0.005).
Why the study?
Does the H558R polymorphism modulate the ECG characteristics and clinical phenotype in patients with Brugada syndrome?
Population
167 subjects with Brugada syndrome. SCN5A mutation group: mean age 39 +/- 15 years, 65% male. Without SCN5A…
Comparison
Presence of the H558R polymorphism vs AA genotype carriers (absence of G allele)
Design
Cross-sectional
Authors
Discussion
Loading...
Member takes
Implication
May refine risk stratification in SCN5A-mutated Brugada syndrome; hypothesis-generating pending prospective validation.
Study Design
Type
Observational (n=167)
Structured PICO
Does the H558R polymorphism modulate the ECG characteristics and clinical phenotype in patients with Brugada syndrome?
P
Population
167 subjects with Brugada syndrome (75 with SCN5A mutation and 92 without) evaluated for the clinical implications of the H558R polymorphism.
E
Exposure
Presence of the H558R (A-->G) polymorphism (G allele carriers)
C
Comparator
AA genotype carriers (absence of G allele)
O
Outcome
ECG characteristics (PR, QRS, QTc intervals, J-point amplitude, R'/S ratio) and clinical symptomssurrogate
Main Result
p-value: p=0.017
The common H558R polymorphism acts as a genetic modulator in Brugada syndrome patients with an SCN5A mutation, where the G allele is associated with less severe ECG abnormalities.
Cite This Study
Lizotte et al. (2009) conducted an observational in Brugada syndrome (n=167). H558R (A-->G) polymorphism vs. AA genotype carriers vs G allele carriers was evaluated on ECG characteristics (QRS duration, J-point elevation, aVR sign) (p=0.017). Among Brugada syndrome patients with an SCN5A mutation, the H558R AA genotype was associated with longer QRS duration (P=0.017), higher J-point elevation (P=0.013), and higher aVR sign (P=0.005).