Literature DB >> 28127136

A variant of Brugada syndrome.

Maryna Popp Switzer1, Mohamed Teleb1, Enoch Agunanne1, Aamer Abbas1.   

Abstract

Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6. To our knowledge, this is the first described case with this variant causing malignant arrhythmia with a cardiac arrest.

Entities:  

Year:  2017        PMID: 28127136      PMCID: PMC5242117          DOI: 10.1080/08998280.2017.11929530

Source DB:  PubMed          Journal:  Proc (Bayl Univ Med Cent)        ISSN: 0899-8280


  8 in total

Review 1.  Brugada syndrome.

Authors:  Yuka Mizusawa; Arthur A M Wilde
Journal:  Circ Arrhythm Electrophysiol       Date:  2012-06-01

Review 2.  Brugada syndrome: a review of the literature.

Authors:  Azeem S Sheikh; Kula Ranjan
Journal:  Clin Med (Lond)       Date:  2014-10       Impact factor: 2.659

3.  Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.

Authors:  Michael J Ackerman; Igor Splawski; Jonathan C Makielski; David J Tester; Melissa L Will; Katherine W Timothy; Mark T Keating; Gregg Jones; Monica Chadha; Christopher R Burrow; J Claiborne Stephens; Chuanbo Xu; Richard Judson; Mark E Curran
Journal:  Heart Rhythm       Date:  2004-11       Impact factor: 6.343

4.  An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Authors:  Jamie D Kapplinger; David J Tester; Marielle Alders; Begoña Benito; Myriam Berthet; Josep Brugada; Pedro Brugada; Véronique Fressart; Alejandra Guerchicoff; Carole Harris-Kerr; Shiro Kamakura; Florence Kyndt; Tamara T Koopmann; Yoshihiro Miyamoto; Ryan Pfeiffer; Guido D Pollevick; Vincent Probst; Sven Zumhagen; Matteo Vatta; Jeffrey A Towbin; Wataru Shimizu; Eric Schulze-Bahr; Charles Antzelevitch; Benjamin A Salisbury; Pascale Guicheney; Arthur A M Wilde; Ramon Brugada; Jean-Jacques Schott; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2009-10-08       Impact factor: 6.343

5.  Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

Authors:  Dan Hu; Hector Barajas-Martínez; Ryan Pfeiffer; Fabio Dezi; Jenna Pfeiffer; Tapan Buch; Matthew J Betzenhauser; Luiz Belardinelli; Kristopher M Kahlig; Sridharan Rajamani; Harry J DeAntonio; Robert J Myerburg; Hiroyuki Ito; Pramod Deshmukh; Mark Marieb; Gi-Byoung Nam; Atul Bhatia; Can Hasdemir; Michel Haïssaguerre; Christian Veltmann; Rainer Schimpf; Martin Borggrefe; Sami Viskin; Charles Antzelevitch
Journal:  J Am Coll Cardiol       Date:  2014-07-08       Impact factor: 24.094

6.  Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report.

Authors:  P Brugada; J Brugada
Journal:  J Am Coll Cardiol       Date:  1992-11-15       Impact factor: 24.094

7.  Gender differences in clinical manifestations of Brugada syndrome.

Authors:  Begoña Benito; Andrea Sarkozy; Lluis Mont; Stephan Henkens; Antonio Berruezo; David Tamborero; Dabit Arzamendi; Paola Berne; Ramon Brugada; Pedro Brugada; Josep Brugada
Journal:  J Am Coll Cardiol       Date:  2008-11-04       Impact factor: 24.094

Review 8.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Shaw; Andrew Phillips; David N Cooper
Journal:  Hum Genet       Date:  2014-01       Impact factor: 4.132

  8 in total
  1 in total

1.  Brugada Syndrome: Presentation and Management of the Atypical Patient in the Emergent Setting.

Authors:  Alexander Nguyen; Mario Flores; Vilmogil Tano
Journal:  Clin Pract Cases Emerg Med       Date:  2020-04-14
  1 in total

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