keyword
https://read.qxmd.com/read/24759840/brugada-syndrome-in-spinal-and-bulbar-muscular-atrophy
#21
JOURNAL ARTICLE
Amane Araki, Masahisa Katsuno, Keisuke Suzuki, Haruhiko Banno, Noriaki Suga, Atsushi Hashizume, Tomoo Mano, Yasuhiro Hijikata, Hideaki Nakatsuji, Hirohisa Watanabe, Masahiko Yamamoto, Takeru Makiyama, Seiko Ohno, Megumi Fukuyama, Shin-Ichiro Morimoto, Minoru Horie, Gen Sobue
OBJECTIVE: The aim of this study was to clarify myocardial involvement and its clinical implications in subjects with spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease affecting both neuronal and nonneuronal tissues. METHODS: Two independent cardiologists evaluated ECGs from a total of 144 consecutive subjects with SBMA. We performed immunohistochemical, immunoblot, and quantitative real-time PCR analyses of autopsied myocardium. RESULTS: Abnormal ECGs were detected in 70 (48...
May 20, 2014: Neurology
https://read.qxmd.com/read/24687990/myocardial-deletion-of-transcription-factor-chf1-hey2-results-in-altered-myocyte-action-potential-and-mild-conduction-system-expansion-but-does-not-alter-conduction-system-function-or-promote-spontaneous-arrhythmias
#22
JOURNAL ARTICLE
Matthew E Hartman, Yonggang Liu, Wei-Zhong Zhu, Wei-Ming Chien, Chad S Weldy, Glenn I Fishman, Michael A Laflamme, Michael T Chin
CHF1/Hey2 is a Notch-responsive basic helix-loop-helix transcription factor involved in cardiac development. Common variants in Hey2 are associated with Brugada syndrome. We hypothesized that absence of CHF1/Hey2 would result in abnormal cellular electrical activity, altered cardiac conduction system (CCS) development, and increased arrhythmogenesis. We isolated neonatal CHF/Hey2-knockout (KO) cardiac myocytes and measured action potentials and ion channel subunit gene expression. We also crossed myocardial-specific CHF1/Hey2-KO mice with cardiac conduction system LacZ reporter mice and stained for conduction system tissue...
July 2014: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://read.qxmd.com/read/24400717/gain-of-function-kcnh2-mutations-in-patients-with-brugada-syndrome
#23
COMPARATIVE STUDY
Q I Wang, Seiko Ohno, Wei-Guang Ding, Megumi Fukuyama, Akashi Miyamoto, Hideki Itoh, Takeru Makiyama, Jie Wu, Jiayu Bai, Kanae Hasegawa, Tetsuji Shinohara, Naohiko Takahashi, Akihiko Shimizu, Hiroshi Matsuura, Minoru Horie
BACKGROUND: Brugada syndrome (BrS) is an inherited disease characterized by right precordial ST segment elevation on electrocardiograms (ECGs) that predisposes patients to sudden cardiac death as a result of polymorphic ventricular tachyarrhythmia or ventricular fibrillation (VF). In BrS patients, except for SCN5A, mutations in other responsible genes are poorly elucidated. METHODS AND RESULTS: We identified 4 KCNH2 mutations, T152I, R164C, W927G, and R1135H, in 236 consecutive probands with BrS or Brugada-like ECG...
May 2014: Journal of Cardiovascular Electrophysiology
https://read.qxmd.com/read/24352520/missense-mutations-in-plakophilin-2-cause-sodium-current-deficit-and-associate-with-a-brugada-syndrome-phenotype
#24
JOURNAL ARTICLE
Marina Cerrone, Xianming Lin, Mingliang Zhang, Esperanza Agullo-Pascual, Anna Pfenniger, Halina Chkourko Gusky, Valeria Novelli, Changsung Kim, Tiara Tirasawadichai, Daniel P Judge, Eli Rothenberg, Huei-Sheng Vincent Chen, Carlo Napolitano, Silvia G Priori, Mario Delmar
BACKGROUND: Brugada syndrome (BrS) primarily associates with the loss of sodium channel function. Previous studies showed features consistent with sodium current (INa) deficit in patients carrying desmosomal mutations, diagnosed with arrhythmogenic cardiomyopathy (or arrhythmogenic right ventricular cardiomyopathy). Experimental models showed correlation between the loss of expression of desmosomal protein plakophilin-2 (PKP2) and reduced INa. We hypothesized that PKP2 variants that reduce INa could yield a BrS phenotype, even without overt structural features characteristic of arrhythmogenic right ventricular cardiomyopathy...
March 11, 2014: Circulation
https://read.qxmd.com/read/24321233/nonsense-mediated-mrna-decay-due-to-a-cacna1c-splicing-mutation-in-a-patient-with-brugada-syndrome
#25
JOURNAL ARTICLE
Megumi Fukuyama, Seiko Ohno, Qi Wang, Takeshi Shirayama, Hideki Itoh, Minoru Horie
BACKGROUND: Brugada syndrome (BrS) is an inherited cardiac arrhythmia associated with sudden death due to ventricular fibrillation. Mutations in genes related to the cardiac L-type calcium channel have been reported to be causative of BrS. Generally, the messenger RNA (mRNA) that contains a nonsense mutation is rapidly degraded via its decay pathway, which is known as nonsense-mediated mRNA decay (NMD). Previously, we reported a male patient with BrS who carried c.1896G>A (the first nucleotide of CACNA1C exon 14), which caused a synonymous mutation, p...
April 2014: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://read.qxmd.com/read/24096171/fgf12-is-a-candidate-brugada-syndrome-locus
#26
JOURNAL ARTICLE
Jessica A Hennessey, Cherisse A Marcou, Chuan Wang, Eric Q Wei, Chaojian Wang, David J Tester, Margherita Torchio, Federica Dagradi, Lia Crotti, Peter J Schwartz, Michael J Ackerman, Geoffrey S Pitt
BACKGROUND: Less than 30% of the cases of Brugada syndrome (BrS) have an identified genetic cause. Of the known BrS-susceptibility genes, loss-of-function mutations in SCN5A or CACNA1C and their auxiliary subunits are most common. On the basis of the recent demonstration that fibroblast growth factor (FGF) homologous factors (FHFs; FGF11-FGF14) regulate cardiac Na(+) and Ca(2+) channel currents, we hypothesized that FHFs are candidate BrS loci. OBJECTIVE: The goal of this study was to test whether FGF12 is a candidate BrS locus...
December 2013: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://read.qxmd.com/read/23575362/l-type-calcium-channel-mutations-in-japanese-patients-with-inherited-arrhythmias
#27
MULTICENTER STUDY
Megumi Fukuyama, Seiko Ohno, Qi Wang, Hiromi Kimura, Takeru Makiyama, Hideki Itoh, Makoto Ito, Minoru Horie
BACKGROUND: Mutations in genes encoding the L-type cardiac calcium channel (LTCC) are associated with various types of inherited arrhythmias, including Brugada syndrome (BrS). However, the frequency in Asian populations remains unknown. This study aimed to elucidate disease-causing mutations in LTCC-related genes in Japanese patients diagnosed as BrS or idiopathic ventricular fibrillation (IVF), early repolarization syndrome, short QT syndrome, and compare them with those carrying SCN5A mutations...
2013: Circulation Journal: Official Journal of the Japanese Circulation Society
https://read.qxmd.com/read/22987075/kcne3-t4a-as-the-genetic-basis-of-brugada-pattern-electrocardiogram
#28
JOURNAL ARTICLE
Tadashi Nakajima, Jie Wu, Yoshiaki Kaneko, Takashi Ashihara, Seiko Ohno, Tadanobu Irie, Wei-Guang Ding, Hiroshi Matsuura, Masahiko Kurabayashi, Minoru Horie
BACKGROUND: Brugada syndrome (BrS) is genetically heterogeneous. In Japanese BrS patients, except for SCN5A and KCNE5, mutations in the responsible genes have not yet been identified, and therefore the genetic heterogeneity remains poorly elucidated. METHODS AND RESULTS: Forty consecutive patients with Brugada-pattern electrocardiogram (ECG) underwent comprehensive genetic analysis of BrS-causing genes including SCN5A, SCN1B, SCN3B, CACNA1C, CACNB2, KCNE3 and KCNE5...
2012: Circulation Journal: Official Journal of the Japanese Circulation Society
https://read.qxmd.com/read/22825893/-benign-early-repolarization-versus-malignant-early-abnormalities-clinical-electrocardiographic-distinction-and-genetic-basis
#29
REVIEW
Andrés Ricardo Pérez-Riera, Luiz Carlos de Abreu, Frank Yanowitz, Raimundo Barbosa Barros, Francisco Femenía, William F McIntyre, Adrian Baranchuk
In the great majority of cases the ECG pattern of early repolarization (ERP) is a benign phenomenon observed predominantly in teenagers, young adults, male athletes and the black race. The universally accepted criterion for its diagnosis is the presence, in at least two adjoining leads, of ≥ 1 mm or 0.1 mV ST segment elevation. In benign ERP reciprocal ST segment changes are possible only in lead aVR. In contrast, reciprocal ST segment changes can be observed in several leads in idiopathic ventricular fibrillation (IVF) and acute coronary syndrome...
2012: Cardiology Journal
https://read.qxmd.com/read/22397033/genetic-and-clinical-aspects-of-brugada-syndrome-an-update
#30
REVIEW
Giuseppe Lippi, Martina Montagnana, Tiziana Meschi, Ivan Comelli, Gianfranco Cervellin
The Brugada Syndrome (BS) is a "channellopathy," characterized by ion (e.g., sodium, calcium, and potassium) channel dysfunction and typical ECG alterations, originally described by Osher and Wolff in 1953 and further elucidated by Josep and Pedro Brugada in 1991. BS is typically associated with a high risk for sudden cardiac death (SCD) in young and otherwise healthy adults. Although in several patients the heart is structurally normal, subtle structural abnormalities in the right ventricular outflow tract are increasingly been reported...
2012: Advances in Clinical Chemistry
https://read.qxmd.com/read/20817017/mutations-in-the-cardiac-l-type-calcium-channel-associated-with-inherited-j-wave-syndromes-and-sudden-cardiac-death
#31
JOURNAL ARTICLE
Elena Burashnikov, Ryan Pfeiffer, Héctor Barajas-Martinez, Eva Delpón, Dan Hu, Mayurika Desai, Martin Borggrefe, Michel Häissaguerre, Ronald Kanter, Guido D Pollevick, Alejandra Guerchicoff, Ruben Laiño, Mark Marieb, Koonlawee Nademanee, Gi-Byoung Nam, Roberto Robles, Rainer Schimpf, Dwight D Stapleton, Sami Viskin, Stephen Winters, Christian Wolpert, Samuel Zimmern, Christian Veltmann, Charles Antzelevitch
BACKGROUND: L-type calcium channel (LTCC) mutations have been associated with Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). Little is known about the extent to which LTCC mutations contribute to the J-wave syndromes associated with sudden cardiac death. OBJECTIVE: The purpose of this study was to identify mutations in the α1, β2, and α2δ subunits of LTCC (Ca(v)1.2) among 205 probands diagnosed with BrS, idiopathic ventricular fibrillation (IVF), and early repolarization syndrome (ERS)...
December 2010: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://read.qxmd.com/read/19606473/the-genetic-basis-of-brugada-syndrome-a-mutation-update
#32
REVIEW
Paula L Hedley, Poul Jørgensen, Sarah Schlamowitz, Johanna Moolman-Smook, Jørgen K Kanters, Valerie A Corfield, Michael Christiansen
Brugada syndrome (BrS) is a condition characterized by a distinct ST-segment elevation in the right precordial leads of the electrocardiogram and, clinically, by an increased risk of cardiac arrhythmia and sudden death. The condition predominantly exhibits an autosomal dominant pattern of inheritance with an average prevalence of 5:10,000 worldwide. Currently, more than 100 mutations in seven genes have been associated with BrS. Loss-of-function mutations in SCN5A, which encodes the alpha-subunit of the Na(v)1...
September 2009: Human Mutation
https://read.qxmd.com/read/19358333/accelerated-inactivation-of-the-l-type-calcium-current-due-to-a-mutation-in-cacnb2b-underlies-brugada-syndrome
#33
JOURNAL ARTICLE
Jonathan M Cordeiro, Mark Marieb, Ryan Pfeiffer, Kirstine Calloe, Elena Burashnikov, Charles Antzelevitch
Recent studies have demonstrated an association between mutations in CACNA1c or CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss of function secondary to a reduction of peak calcium current (I(Ca)). We describe a novel CACNB2b mutation associated with BrS in which loss of function is caused by accelerated inactivation of I(Ca). The proband, a 32 year old male, displayed a Type I ST segment elevation in two right precordial ECG leads following a procainamide challenge. EP study was positive with induction of polymorphic VT/VF...
May 2009: Journal of Molecular and Cellular Cardiology
https://read.qxmd.com/read/17224476/loss-of-function-mutations-in-the-cardiac-calcium-channel-underlie-a-new-clinical-entity-characterized-by-st-segment-elevation-short-qt-intervals-and-sudden-cardiac-death
#34
JOURNAL ARTICLE
Charles Antzelevitch, Guido D Pollevick, Jonathan M Cordeiro, Oscar Casis, Michael C Sanguinetti, Yoshiyasu Aizawa, Alejandra Guerchicoff, Ryan Pfeiffer, Antonio Oliva, Bernd Wollnik, Philip Gelber, Elias P Bonaros, Elena Burashnikov, Yuesheng Wu, John D Sargent, Stefan Schickel, Ralf Oberheiden, Atul Bhatia, Li-Fern Hsu, Michel Haïssaguerre, Rainer Schimpf, Martin Borggrefe, Christian Wolpert
BACKGROUND: Cardiac ion channelopathies are responsible for an ever-increasing number and diversity of familial cardiac arrhythmia syndromes. We describe a new clinical entity that consists of an ST-segment elevation in the right precordial ECG leads, a shorter-than-normal QT interval, and a history of sudden cardiac death. METHODS AND RESULTS: Eighty-two consecutive probands with Brugada syndrome were screened for ion channel gene mutations with direct sequencing...
January 30, 2007: Circulation
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