THE CLINICAL POLYMORPHISM AND TREATMENT STRATEGY IN A LARGE FAMILY WITH BRUGADA SYNDROME
https://doi.org/10.15829/1560-4071-2014-5-66-71
Abstract
Brugada syndrome (BrS) is an inherited arrhythmia characterized by ST-segment elevation in V1-V2 leads followed by negative T-wave on standard ECG, and high risk of ventricular tachyarrhythmias and sudden cardiac death (SCD). A wide range of supraventricular arrhythmias and conduction disturbances was described for BrS. The disease was considered of the high frequency in Southeast Asia, but current estimation of BrS is at least 1:10 000 in all ethnic groups. At least 17 genes are known to be responsible for BrS. Approximately 15-30% of individuals with Brugada syndrome cases are affected by mutations in SCN5A gene. In this study we discuss the clinical polymorphism and surgical treatment in a large family with Brugada syndrome caused by p.A735V mutation in SCN5A gene.
About the Authors
S. Saber
The Sechenov First State Medical University, Moscow, Russia
Russian Federation
Russian Federation
A. F. Fazelifar
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Islamic Republic of Iran
Islamic Republic of Iran
M. Haghjoo
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Islamic Republic of Iran
Islamic Republic of Iran
Z. Emkanjoo
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Islamic Republic of Iran
Islamic Republic of Iran
A. Alizadeh
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Islamic Republic of Iran
Islamic Republic of Iran
M. Shojaifard
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Islamic Republic of Iran
Islamic Republic of Iran
M. Dalili
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Islamic Republic of Iran
Islamic Republic of Iran
M. Houshmand
Dept. of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
Islamic Republic of Iran
Islamic Republic of Iran
A. V. Gavrilenko
The Sechenov First State Medical University, Moscow, Russia
FSBI Petrovsky Russian Scientific Centre for Surgery, Moscow, Russia
Russian Federation
Russian Federation
E. V. Zaklyazminskaya
The Sechenov First State Medical University, Moscow, Russia
FSBI Petrovsky Russian Scientific Centre for Surgery, Moscow, Russia
Russian Federation
Russian Federation
References
1. Vatta M, Dumaine R, Varghese G, et al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (sUNDs), a disease allelic to Brugada syndrome. Hum Mol Genet 2002; 11: 337-45.
2. Duplyakov DV, Glukhova VL, Maksimova SV, et al.Частота of identification of signs of a syndrome of Brugad during electrocardiogram registration. Cardiology 2007; 47 (11): 55-9. Russian (Дупляков Д. В., Глухова В. Л., Максимова С. В., др.Частота выявления признаков синдрома Бругада в ходе регистрации ЭКГ. Кардиология 2007; 47 (11): 55-9).
3. de Luna AB, Brugada J, Baranchuk A, et.al. Current electrocardiographic criteria for diagnosis of Brugada pattern: a consensus report. Journal of Electrocardiology 45 (2012) 433-42.
4. Nielsen MW, Holst AG, Olesen S-P, et.al. The genetic component of Brugada syndrome. REVIEWARTICLE published: 15 July 2013.
5. Brugada P, Borggrefe M, Brugada J, et al. Brugada syndrome: Report of the Second Consensus Conference: Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation. 2005; 111: 659-70.
6. McNairWP, Ku L, Taylor MR, et al. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia / Circulation. 2004; 110: 2163.
7. Olson T, Michels V, Ballew J, et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation; JAMA.2005; 293: 447-55.
Review
For citations:
Saber S., Fazelifar A.F., Haghjoo M., Emkanjoo Z., Alizadeh A., Shojaifard M., Dalili M., Houshmand M., Gavrilenko A.V., Zaklyazminskaya E.V. THE CLINICAL POLYMORPHISM AND TREATMENT STRATEGY IN A LARGE FAMILY WITH BRUGADA SYNDROME. Russian Journal of Cardiology. 2014;(5):66-71. (In Russ.) https://doi.org/10.15829/1560-4071-2014-5-66-71
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