Literature DB >> 16267250

Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study.

Ruben Coronel1, Simona Casini, Tamara T Koopmann, Francien J G Wilms-Schopman, Arie O Verkerk, Joris R de Groot, Zahurul Bhuiyan, Connie R Bezzina, Marieke W Veldkamp, André C Linnenbank, Allard C van der Wal, Hanno L Tan, Pedro Brugada, Arthur A M Wilde, Jacques M T de Bakker.   

Abstract

BACKGROUND: The mechanism of ECG changes and arrhythmogenesis in Brugada syndrome (BS) patients is unknown. METHODS AND
RESULTS: A BS patient without clinically detected cardiac structural abnormalities underwent cardiac transplantation for intolerable numbers of implantable cardioverter/defibrillator discharges. The patient's explanted heart was studied electrophysiologically and histopathologically. Whole-cell currents were measured in HEK293 cells expressing wild-type or mutated sodium channels from the patient. The right ventricular outflow tract (RVOT) endocardium showed activation slowing and was the origin of ventricular fibrillation without a transmural repolarization gradient. Conduction restitution was abnormal in the RVOT but normal in the left ventricle. Right ventricular hypertrophy and fibrosis with epicardial fatty infiltration were present. HEK293 cells expressing a G1935S mutation in the gene encoding the cardiac sodium channel exhibited enhanced slow inactivation compared with wild-type channels. Computer simulations demonstrated that conduction slowing in the RVOT might have been the cause of the ECG changes.
CONCLUSIONS: In this patient with BS, conduction slowing based on interstitial fibrosis, but not transmural repolarization differences, caused the ECG signs and was the origin of ventricular fibrillation.

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Year:  2005        PMID: 16267250     DOI: 10.1161/CIRCULATIONAHA.105.532614

Source DB:  PubMed          Journal:  Circulation        ISSN: 0009-7322            Impact factor:   29.690


  112 in total

1.  Evaluation of Brugada syndrome by cardiac magnetic resonance.

Authors:  Carlo Tessa; Jacopo Del Meglio; Andrea Ghidini Ottonelli; Stefano Diciotti; Luca Salvatori; Massimo Magnacca; Marco Chioccioli; Jacopo Lera; Claudio Vignali; Giancarlo Casolo
Journal:  Int J Cardiovasc Imaging       Date:  2012-01-14       Impact factor: 2.357

Review 2.  Embryological development of pacemaker hierarchy and membrane currents related to the function of the adult sinus node: implications for autonomic modulation of biopacemakers.

Authors:  Tobias Opthof
Journal:  Med Biol Eng Comput       Date:  2007-01-03       Impact factor: 2.602

3.  Diversity in cardiac sodium channel disease phenotype in transgenic mice carrying a single SCN5A mutation.

Authors:  C A Remme; A O Verkerk; A A M Wilde; M W Veldkamp; J M T de Bakker; C R Bezzina
Journal:  Neth Heart J       Date:  2007       Impact factor: 2.380

Review 4.  The Diagnosis, Risk Stratification, and Treatment of Brugada Syndrome.

Authors:  Johannes Steinfurt; Jürgen Biermann; Christoph Bode; Katja E Odening
Journal:  Dtsch Arztebl Int       Date:  2015-06-05       Impact factor: 5.594

5.  A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.

Authors:  Kaveh Samani; Geru Wu; Tomohiko Ai; Mossaab Shuraih; Nilesh S Mathuria; Zhaohui Li; Yoshiro Sohma; Enkhsaikhan Purevjav; Yutao Xi; Jeffrey A Towbin; Jie Cheng; Matteo Vatta
Journal:  Heart Rhythm       Date:  2009-05-18       Impact factor: 6.343

6.  Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.

Authors:  Markéta Bébarová; Tom O'Hara; Jan L M C Geelen; Roselie J Jongbloed; Carl Timmermans; Yvonne H Arens; Luz-Maria Rodriguez; Yoram Rudy; Paul G A Volders
Journal:  Am J Physiol Heart Circ Physiol       Date:  2008-05-02       Impact factor: 4.733

7.  Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy.

Authors:  Prince J Kannankeril; Brett M Mitchell; Sanjeewa A Goonasekera; Mihail G Chelu; Wei Zhang; Subeena Sood; Debra L Kearney; Cristina I Danila; Mariella De Biasi; Xander H T Wehrens; Robia G Pautler; Dan M Roden; George E Taffet; Robert T Dirksen; Mark E Anderson; Susan L Hamilton
Journal:  Proc Natl Acad Sci U S A       Date:  2006-07-27       Impact factor: 11.205

8.  Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.

Authors:  Hiroshi Watanabe; Tao Yang; Dina Myers Stroud; John S Lowe; Louise Harris; Thomas C Atack; Dao W Wang; Susan B Hipkens; Brenda Leake; Lynn Hall; Sabina Kupershmidt; Nagesh Chopra; Mark A Magnuson; Naohito Tanabe; Björn C Knollmann; Alfred L George; Dan M Roden
Journal:  Circulation       Date:  2011-08-08       Impact factor: 29.690

9.  Computational prediction of the effect of D172N KCNJ2 mutation on ventricular pumping during sinus rhythm and reentry.

Authors:  Aulia Khamas Heikhmakhtiar; Chung Hao Lee; Kwang Soup Song; Ki Moo Lim
Journal:  Med Biol Eng Comput       Date:  2020-02-24       Impact factor: 2.602

Review 10.  Pathogenesis and management of Brugada syndrome.

Authors:  Juan Sieira; Gregory Dendramis; Pedro Brugada
Journal:  Nat Rev Cardiol       Date:  2016-09-15       Impact factor: 32.419

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