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Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome
- Source :
- Circulation. 135:2255-2270
- Publication Year :
- 2017
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2017.
-
Abstract
- Background: The genotype-phenotype correlation of SCN5A mutations as a predictor of cardiac events in Brugada syndrome remains controversial. We aimed to establish a registry limited to probands, with a long follow-up period, so that the genotype-phenotype correlation of SCN5A mutations in Brugada syndrome can be examined without patient selection bias. Methods: This multicenter registry enrolled 415 probands (n=403; men, 97%; age, 46±14 years) diagnosed with Brugada syndrome whose SCN5A gene was analyzed for mutations. Results: During a mean follow-up period of 72 months, the overall cardiac event rate was 2.5%/y. In comparison with probands without mutations ( SCN5A (–), n=355), probands with SCN5A mutations ( SCN5A (+), n=60) experienced their first cardiac event at a younger age (34 versus 42 years, P =0.013), had a higher positive rate of late potentials (89% versus 73%, P =0.016), exhibited longer P-wave, PQ, and QRS durations, and had a higher rate of cardiac events ( P =0.017 by log-rank). Multivariate analysis indicated that only SCN5A mutation and history of aborted cardiac arrest were significant predictors of cardiac events ( SCN5A (+) versus SCN5A (–): hazard ratio, 2.0 and P =0.045; history of aborted cardiac arrest versus no such history: hazard ratio, 6.5 and P Conclusions: Brugada syndrome patients with SCN5A mutations exhibit more conduction abnormalities on ECG and have higher risk for cardiac events.
- Subjects :
- Proband
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Scn5a gene
business.industry
030204 cardiovascular system & hematology
medicine.disease
Genotype phenotype
Correlation
03 medical and health sciences
0302 clinical medicine
Physiology (medical)
Internal medicine
cardiovascular system
medicine
Cardiology
cardiovascular diseases
030212 general & internal medicine
Cardiology and Cardiovascular Medicine
business
Brugada syndrome
Subjects
Details
- ISSN :
- 15244539 and 00097322
- Volume :
- 135
- Database :
- OpenAIRE
- Journal :
- Circulation
- Accession number :
- edsair.doi...........c5aeb484d222ee22cfbaf96ae3ad8483