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syncope early repolarization

Ahmed Karim Talib, Nobuyuki Sato, Takuya Myojo, Eitaro Sugiyama, Naoki Nakagawa, Naka Sakamoto, Yasuko Tanabe, Takayuki Fujino, Toshiharu Takeuchi, Kazumi Akasaka, Hironobu Matsuhashi, Yasuaki Saijo, Yuichiro Kawamura, Atsushi Doi, Naoyuki Hasebe
The pro-arrhythmic triggers in Brugada and early repolarization syndromes (BrS, ERS) have not been analyzed systematically except for case reports. We clinically investigated the circumstances which precede/predispose to arrhythmic events in these syndromes during long-term follow-up. A detailed history from the patients/witnesses was taken to investigate the antecedent events in the last few hours that preceded syncope/ventricular fibrillation (VF); medical records, ECG and blood test from the emergency room (ER) were reviewed...
March 11, 2016: Heart and Vessels
Qi Guo, Lan Ren, Xuhua Chen, Cuihong Hou, Jianmin Chu, Jielin Pu, Shu Zhang
Several genetic variants have been associated with early repolarization syndrome (ERS). However, the lack of functional validations of the mutant effects has limited the interpretation of genetic tests. In the present study, we identified and characterized a novel sodium channel, voltage gated, type V alpha subunit (SCN5A) mutation that was associated with ERS. A 67-year-old male proband suffering from recurrent syncope underwent a documented electrocardiogram (ECG) for polymorphic ventricular tachycardia (VT)...
March 2016: International Journal of Molecular Medicine
Jørgen K Kanters, Lasse Skibsbye, Paula L Hedley, Maja Dembic, Bo Liang, Christian M Hagen, Ole Eschen, Morten Grunnet, Michael Christiansen, Thomas Jespersen
BACKGROUND: Congenital long QT syndrome (LQTS) is a hereditary cardiac channelopathy characterized by delayed ventricular repolarization, syncope, torsades de pointes and sudden cardiac death. Thirty-three members of five apparently 'unrelated' Danish families carry the KCNH2:c.87C> A; p.F29L founder mutation. METHODS AND RESULTS: Linkage disequilibrium mapping with microsatellites around KCNH2 enabled us to estimate the age of the founder mutation to be approximately 22 generations, corresponding to around 550 years...
2015: Scandinavian Journal of Clinical and Laboratory Investigation
Arnon Adler, Raphael Rosso, Ehud Chorin, Ofer Havakuk, Charles Antzelevitch, Sami Viskin
Risk stratification in Brugada syndrome remains a clinical challenge because the event rate is low but the presenting symptom is often cardiac arrest (CA). We review the data on risk stratification. A history of CA or malignant syncope is a strong predictor of spontaneous ventricular fibrillation (VF), whereas the prognostic value of a history of familial sudden death and the presence of a SCN5A mutation are less well defined. On the electrocardiogram, the presence of spontaneous type I electrocardiogram increases the risk for VF in all studies, whereas the presence of fragmented QRS complexes and early repolarization correlates with increased risk in several studies...
January 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Yuta Chiba, Yoshino Minoura, Yoshimi Onishi, Koichiro Inokuchi, Akinori Ochi, Shiro Kawasaki, Yoshimasa Onuma, Yumi Munetsugu, Miwa Kikuchi, Hiroyuki Ito, Tatsuya Onuki, Norikazu Watanabe, Taro Adachi, Taku Asano, Kaoru Tanno, Youichi Kobayashi
BACKGROUND: Syncope is a common occurrence. The presence of J-wave, also known as early repolarization, on electrocardiogram is often seen in the general population, but the relationship between syncope and J-wave is unclear. METHODS AND RESULTS: After excluding 67 patients with structural heart disease from 326 with syncope, we classified 259 patients according to the presence or absence of J-wave (≥1 mm) in at least 2 inferior or lateral leads. Head-up tilt test (HUT) was performed for 30 min...
2015: Circulation Journal: Official Journal of the Japanese Circulation Society
Arnon Adler, Sami Viskin
Since the discovery of the first mutation causing long QT syndrome (LQTS) in 1995, the field of hereditary arrhythmogenic syndromes has expanded greatly. Today, these syndromes include LQTS, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. There is also evidence suggesting that the newly described malignant early repolarization syndrome also has a genetic cause.
August 2015: Cardiology Clinics
Abbas Zaidi, Nabeel Sheikh, Jesse K Jongman, Sabiha Gati, Vasileios F Panoulas, Gerald Carr-White, Michael Papadakis, Rajan Sharma, Elijah R Behr, Sanjay Sharma
BACKGROUND: Physiological cardiac adaptation to regular exercise, including biventricular dilation and T-wave inversion (TWI), may create diagnostic overlap with arrhythmogenic right ventricular cardiomyopathy (ARVC). OBJECTIVES: The goal of this study was to assess the accuracy of diagnostic criteria for ARVC when applied to athletes exhibiting electrocardiographic TWI and to identify discriminators between physiology and disease. METHODS: The study population consisted of athletes with TWI (n = 45), athletes without TWI (n = 35), and ARVC patients (n = 35)...
June 30, 2015: Journal of the American College of Cardiology
WuQiang Fan, Laura Chachula, Yin Wu, Koroush Khalighi
INTRODUCTION: Brugada syndrome (BrS) is an autosomal dominant genetic disorder involving the abnormal function of cardiac voltage-gated sodium ion channels. Sodium channel loss of function can lead to early repolarization and loss of the Phase 2 action potential dome in cardiomyocytes. In BrS, this sodium channelopathy occurs in some, but not all, epicardial cells thus creating 1) juxtaposition of depolarized and repolarized cells in the epicardium and 2) a transmural voltage gradient...
2015: Journal of Community Hospital Internal Medicine Perspectives
Zachary W M Laksman, Lorne J Gula, Pradyot Saklani, Romain Cassagneau, Christian Steinberg, Susan Conacher, Raymond Yee, Allan Skanes, Peter Leong-Sit, Jaimie Manlucu, George J Klein, Andrew D Krahn
BACKGROUND: Early repolarization (ER) is associated with an increased risk for death from cardiac causes. Recent evidence supports ER's role as a modifier and/or predictor of risk in many cardiac conditions. OBJECTIVE: The purpose of this study was to determine the prevalence of ER among genotype-positive patients with long QT syndrome (LQTS) and evaluate its utility in predicting the risk of symptoms. METHODS: ER was defined as QRS slurring and/or notching associated with ≥1-mV QRS-ST junction (J-point) elevation in at least 2 contiguous leads, excluding the anterior precordial leads...
September 2014: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Koji Tokioka, Kengo F Kusano, Hiroshi Morita, Daiji Miura, Nobuhiro Nishii, Satoshi Nagase, Kazufumi Nakamura, Kunihisa Kohno, Hiroshi Ito, Tohru Ohe
OBJECTIVES: This study aimed to determine the usefulness of the combination of several electrocardiographic markers on risk assessment of ventricular fibrillation (VF) in patients with Brugada syndrome (BrS). BACKGROUND: Detection of high-/low-risk BrS patients using a noninvasive method is an important issue in the clinical setting. Several electrocardiographic markers related to depolarization and repolarization abnormalities have been reported, but the relationship and usefulness of these parameters in VF events are unclear...
May 27, 2014: Journal of the American College of Cardiology
Zahurul A Bhuiyan, Safar Al-Shahrani, Jumana Al-Aama, Arthur A M Wilde, Tarek S Momenah
Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation. Due to the variability in underlying genetic defects, type, and location of the mutations and putative modifiers, clinical phenotypes could be moderate to severe, even absent in many individuals. Clinical presentation and severity could be quite variable, syncope, or sudden cardiac death could also be the first and the only manifestation in a patient who had previously no symptoms at all...
2013: Frontiers in Pediatrics
Joseph E Marine
Syncope is a risk factor for sudden cardiac death (SCD) in many conditions associated with structural heart disease as well as inherited heart disease. The ECG in patients with syncope should be examined carefully for signs of structural heart disease, such as myocardial infarction or cardiomyopathy; signs of conduction system disease, such as bundle branch block or atrioventricular block; and signs of primary electrical disease. Important forms of cardiomyopathy accompanied by ECG changes include hypertrophic cardiomyopathy (HCM), and arrhythmogenic right ventricular dysplasia (ARVD/C)...
November 2013: Journal of Electrocardiology
Lars Eckardt, Kristina Wasmer, Julia Köbe, Peter Milberg, Gerold Mönnig
Early repolarization, involving infero-lateral ST segment elevation and prominent J waves at the QRS-ST junction has been considered a normal ECG variant for more than 80 years. More recent studies suggest that this phenomenon is not as benign as earlier believed and may represent a risk for subsequent ventricular fibrillation in patients with and without structural heart disease. However, based on current data it seems unjustified to consider these often accidental ECG findings a marker for high risk of sudden cardiac death...
June 2013: Herzschrittmachertherapie & Elektrophysiologie
Ning Li, Rongrong Wang, Cuihong Hou, Yinhui Zhang, Siyong Teng, Jielin Pu
The genetic background of early repolarization syndrome (ERS) has not been fully understood. In this study, we identified a missense SCN5A mutation and a polymorphism in a patient with ERS and characterized the functional consequences of the two variants. The functional consequences of mutant channels were investigated with the patch-clamp technique, immunocytochemical studies and real-time PCR. A 19-year-old female proband with recurrent syncope had a documented electrocardiogram with ventricular fibrillation (VF) proceeded by large J waves in leads I, II, III, aVF and V2-V6...
September 2013: International Journal of Molecular Medicine
Manoj N Obeyesekere, George J Klein, Stanley Nattel, Peter Leong-Sit, Lorne J Gula, Allan C Skanes, Raymond Yee, Andrew D Krahn
No abstract text is available yet for this article.
April 16, 2013: Circulation
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
Ozlem Bostan, Şehime G Temel, Hakan Cangül, Caroline N S Archer, Ergun Çil
Long QT syndrome is one of the most common cardiac ion channel diseases, but its morbidity and mortality rate can be lessened with an early diagnosis and proper treatment. This cardiac ventricular repolarization abnormality is characterized by a prolonged QT interval and a propensity for ventricular tachycardia (VT) of the torsades de pointes type. The long QT syndrome represents a high risk for presyncope, syncope, cardiac arrest, and sudden death. Jervell and Lange-Nielsen syndrome (JLNS) is a recessively inherited form of long QT syndrome characterized by profound sensorineural deafness and prolongation of the QT interval...
2013: Pediatric Cardiology
Daniel C Bartos, Jeffrey B Anderson, Rachel Bastiaenen, Jonathan N Johnson, Michael H Gollob, David J Tester, Don E Burgess, Tessa Homfray, Elijah R Behr, Michael J Ackerman, Pascale Guicheney, Brian P Delisle
BACKGROUND: Atrial fibrillation (AF) is the most common cardiac arrhythmia, and its incidence is expected to grow. A genetic predisposition for AF has long been recognized, but its manifestation in these patients likely involves a combination of rare and common genetic variants. Identifying genetic variants that associate with a high penetrance for AF would represent a significant breakthrough for understanding the mechanisms that associate with disease. METHOD AND RESULTS: Candidate gene sequencing in 5 unrelated families with familial AF identified the KCNQ1 missense mutation p...
May 2013: Journal of Cardiovascular Electrophysiology
Anna Bartczak, Malgorzata Lelonek
BACKGROUND: Early repolarization variant (ERV) was recently described as an electrocardiogram (ECG) pattern associated with increased risk of sudden cardiac death (SCD) in some populations. We decided to establish the significance of ERV in syncopal patients referred to tilt testing due to suspected reflex syncope. METHODS: From 160 consecutive patients (mean age 36.6 ± 15 years) history of syncopal episodes and resting ECG were collected. ERV was diagnosed if elevation of point J ≥ 0...
April 2013: Pacing and Clinical Electrophysiology: PACE
Kohava Toledano, Alexander P Rozin
Electrocardiographic (ECG) findings of wide QRS complexes in right precordial leads with saddle ST elevation in patients with polyarthritis, palpitations and family history of syncope urged us to review early repolarization syndrome (ERS). ERS is commonly seen in young men. The main ECG features are as follows: wide spread concave ST-segment elevation, more in the precordial leads (usually V2-V4); notching or irregular contour of J point and prominent concordant T waves with large amplitude. ERS was historically considered as a benign ECG variant...
September 2013: American Journal of the Medical Sciences
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