Download Abstract_Rido_Maulana_INAHRS

CORRELATION BETWEEN SCN5A GENE MUTATION AND OCCURENCE OF
VENTRICULAR FIBRILLATION AND SYNCOPE IN BRUGADA SYNDROME
Rido Maulana1, Sunu Budi Raharjo2, Irma Maghfirah, Fatimah Alzahra’, Agnes Dinar
Putrinarita, Dicky A Hanafy, Yoga Yuniadi
Presenting Author: [email protected]
Corresponding Author: [email protected]
1
2
Department of Cardiology & Vascular Medicine, Faculty of Medicine, University of
Indonesia/ National Cardiovascular Center Harapan Kita, Jakarta, Indonesia
BACKGROUND:
Mutations in the gene encoding the main cardiac sodium channel (SCN5A) are the
commonest genetic cause of Brugada syndrome. However, the effect of SCN5A
mutations on the outcomes of ventricular fibrillation (VF) and syncope remains
uncertain.
METHODS:
A comprehensive search was conducted to identify all eligible studies from PubMed,
MEDLINE, EBSCO, ProQuest, Science Direct, Clinical Key, and Cochrane database for
cohort studies of Brugada syndrome populations that had been systematically tested for
SCN5A mutations. The meta-analysis was performed by RevMan 5.3 (fixed-effects
model) to provide a pooled estimate for relative risk (RR) with 95% confidence
intervals (95% CIs). The primary outcome was the composite of VF and syncope, while
the secondary outcomes were VF and syncope, individually.
RESULTS:
Nine clinical studies met our inclusion criteria and included a total of 1,039 patients.
These studies included 400 ventricular fibrillation patients and 639 syncope patients.
We found that Brugada syndrome patients with SCN5A mutations showed significant
association with the risk of primary endpoint (composite of VF and syncope) (risk ratio
(RR)=1.24; 95% CI=1.04, 1.48, p=0.02, I2=0%). For the secondary endpoints, there was
no significant differences between Brugada Syndrome with and without SCN5A
mutation on the risk of VF (risk ratio (RR)=1.31; 95% CI=0.96, 1.79, p=0.09, I2=0%) and
syncope (risk ratio (RR)=1.21; 95% CI=0.97, 1.50, p=0.09, I2=19%).
CONCLUSION:
Brugada syndrome patients with SCN5A mutations are at increased risk of the
occurrence combined VF and syncope, compared with those without SCN5A mutations.
Keywords : SCN5A mutation, brugada syndrome, ventricular fibrillation, syncope