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Sudden arrhythmic death syndrome

Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
Oruganti Sai Satish, K Sashikanth Srivastav
Till recently, ST segment elevation in the absence of conduction abnormalities or chest pain occurring particularly in young bradycardia individuals has been considered a normal variant called early repolarisation (ER). However, recent studies suggest a more worrisome picture as patients with history of idiopathic ventricular fibrillation showed increased prevalence of ER in ECG. ER is an ECG pattern characterised by elevation of the QRS-ST junction (J point) ≥ 2 mv from baseline in the inferior (II, III, aVF) or lateral (I, aVL, V4-V6) leads manifested as QRS slurring or notching...
July 2016: Journal of the Association of Physicians of India
Maria Cecilia Gonzalez Corcia, Juan Sieira, Andrea Sarkozy, Carlo de Asmundis, Gian-Battista Chierchia, Jaime Hernandez Ojeda, Gudrun Pappaert, Pedro Brugada
AIMS: To investigate the clinical characteristics, prognoses, and presence of risk factors in young patients with Brugada syndrome (BS). METHODS AND RESULTS: A consecutive cohort of 128 young BS patients (≤25 years old at diagnosis) was analysed. Eighty-eight patients (69%) were asymptomatic, whereas 40 (31%) presented with clinical manifestations of BS. Markers of prognosis and risk were identified upon comparison of these two groups. A history of malignant syncope was strong predictors of ventricular arrhythmic events...
October 13, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Yanushi D Wijeyeratne, Elijah R Behr
Approximately 4% of sudden cardiac deaths are unexplained [the sudden arrhythmic death syndrome (SADS)], and up to 6-10% of survivors of cardiac arrest do not have an identifiable cardiac abnormality after comprehensive clinical evaluation [idiopathic ventricular fibrillation (IVF)]. Genetic testing may be able to play a role in diagnostics and can be targeted to an underlying phenotype present in family members following clinical evaluation. Alternatively, post-mortem genetic testing (the "molecular autopsy") may diagnose the underlying cause if a clearly pathogenic rare variant is found...
August 31, 2016: Trends in Cardiovascular Medicine
Jo-Jo Hai, Edward Tam, Pak-Hei Chan, Chu-Pak Lau, Chung-Wah Siu, Hung-Fat Tse
BACKGROUND: Current data on the risk of sudden arrhythmic death (SAD) and ventricular tachyarrhythmias (VTs) after acute coronary syndrome (ACS) in the Asian population are limited. OBJECTIVE: The purpose of this study was to investigate the incidence and predictors of SAD or VT after ACS in a contemporary cohort of Chinese patients in the era of early revascularization. METHODS: Consecutive patients admitted to our unit for ACS from 2010 to 2015 were retrospectively reviewed...
September 15, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Yogananda S Markandeya, Tadashi Tsubouchi, Timothy A Hacker, Matthew R Wolff, Luiz Belardinelli, Ravi C Balijepalli
BACKGROUND: Lamin A and C are nuclear filament proteins encoded by LMNA gene. Mutations in LMNA gene cause many congenital diseases known as laminopathies, including Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria syndrome and familial dilated cardiomyopathy (DCM) with conduction disease. A missense mutation (N195K) in the A-type lamins results in familial DCM and sudden arrhythmic death. OBJECTIVE: We investigated the ion current mechanism of arrhythmia and DCM caused by the LaminA-N195K variant...
August 3, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Golukhova E Z, Gromova O I, Shomahov R A, Bulaeva N I, Bockeria L A
The abrupt cessation of effective cardiac function that is generally due to heart rhythm disorders can cause sudden and unexpected death at any age and is referred to as a syndrome called "sudden cardiac death" (SCD). Annually, about 400,000 cases of SCD occur in the United States alone. Less than 5% of the resuscitation techniques are effective. The prevalence of SCD in a population rises with age according to the prevalence of coronary artery disease, which is the most common cause of sudden cardiac arrest...
April 2016: Acta Naturae
Lena Rivard, Antoine Roux, Isabelle Nault, Jean Champagne, Jean-François Roux, Rafik Tadros, Mario Talajic, Julia Cadrin-Tourigny, Azadeh Shohoudi, Blandine Mondésert, Denis Roy, Laurent Macle, Jason Andrade, Katia Dyrda, Marc Dubuc, Peter G Guerra, Jean-François Sarrazin, Bernard Thibault, Paul Khairy
BACKGROUND: Patients with Brugada syndrome (BrS) are at risk for ventricular arrhythmias (VAs) and sudden death. Identification of high-risk individuals beyond those with syncope or resuscitated sudden death remains a major challenge. METHODS: We assessed the value of clinical, electrophysiological, and electrocardiographic (ECG) features, including depolarization and repolarization metrics, in predicting arrhythmic events and sudden death in consecutive patients with BrS diagnosed between 2002 and 2013 in Quebec, Canada...
March 31, 2016: Canadian Journal of Cardiology
Najim Lahrouchi, Elijah R Behr, Connie R Bezzina
Sudden cardiac death (SCD) in the young (<40 years) occurs in the setting of a variety of rare inherited cardiac disorders and is a disastrous event for family members. Establishing the cause of SCD is important as it permits the pre-symptomatic identification of relatives at risk of SCD. Sudden arrhythmic death syndrome (SADS) is defined as SCD in the setting of negative autopsy findings and toxicological analysis. In such cases, reaching a diagnosis is even more challenging and post-mortem genetic testing can crucially contribute to the identification of the underlying cause of death...
2016: Frontiers in Cardiovascular Medicine
Greg Mellor, Christopher P Nelson, Claire Robb, Hariharan Raju, Yanushi Wijeyeratne, Christian Hengstenberg, Wibke Reinhard, Michael Papadakis, Sanjay Sharma, Nilesh J Samani, Elijah R Behr
BACKGROUND: The early repolarization (ER) pattern is associated with sudden death and has been shown to be heritable. Its significance when identified in families affected by sudden arrhythmic death syndrome (SADS) remains unclear. METHODS AND RESULTS: We analyzed 12-lead ECGs of 401 first-degree relatives of individuals who had died from SADS. The prevalence of ER patterns was compared with family-clustered controls. ER was more common in SADS family members than in controls (21% versus 8%; odds ratio: 5...
June 2016: Circulation. Arrhythmia and Electrophysiology
Gherardo Finocchiaro, Michael Papadakis, Jan-Lukas Robertus, Harshil Dhutia, Alexandros Klavdios Steriotis, Maite Tome, Greg Mellor, Ahmed Merghani, Aneil Malhotra, Elijah Behr, Sanjay Sharma, Mary N Sheppard
BACKGROUND: Accurate knowledge of causes of sudden cardiac death (SCD) in athletes and its precipitating factors is necessary to establish preventative strategies. OBJECTIVES: This study investigated causes of SCD and their association with intensive physical activity in a large cohort of athletes. METHODS: Between 1994 and 2014, 357 consecutive cases of athletes who died suddenly (mean 29 ± 11 years of age, 92% males, 76% Caucasian, 69% competitive) were referred to our cardiac pathology center...
May 10, 2016: Journal of the American College of Cardiology
Yuka Mizusawa, Hiroshi Morita, Arnon Adler, Ofer Havakuk, Aurélie Thollet, Philippe Maury, Dao W Wang, Kui Hong, Estelle Gandjbakhch, Frédéric Sacher, Dan Hu, Ahmad S Amin, Najim Lahrouchi, Hanno L Tan, Charles Antzelevitch, Vincent Probst, Sami Viskin, Arthur A M Wilde
BACKGROUND: In Brugada syndrome (BrS), spontaneous type 1 electrocardiogram (ECG) is an established risk marker for fatal arrhythmias whereas drug-induced type 1 ECG shows a relatively benign prognosis. No study has analyzed the prognosis of fever-induced type 1 ECG (F-type1) in a large BrS cohort. OBJECTIVES: The objectives of this study were to assess the prognosis of F-type1 in asymptomatic BrS and to compare the effects of fever and drugs on ECG parameters. METHODS: One hundred twelve patients with BrS who developed F-type1 were retrospectively enrolled...
July 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Jukka Kuusela, Ville J Kujala, Anna Kiviaho, Marisa Ojala, Heikki Swan, Kimmo Kontula, Katriina Aalto-Setälä
Human induced pluripotent stem cells (hiPSC) have enabled a major step forward in pathophysiologic studies of inherited diseases and may also prove to be valuable in in vitro drug testing. Long QT syndrome (LQTS), characterized by prolonged cardiac repolarization and risk of sudden death, may be inherited or result from adverse drug effects. Using a microelectrode array platform, we investigated the effects of six different drugs on the electrophysiological characteristics of human embryonic stem cell-derived cardiomyocytes as well as hiPSC-derived cardiomyocytes from control subjects and from patients with type 1 (LQT1) and type 2 (LQT2) of LQTS...
2016: SpringerPlus
Leonardo Calò, Carla Giustetto, Annamaria Martino, Luigi Sciarra, Natascia Cerrato, Marta Marziali, Jessica Rauzino, Giulia Carlino, Ermenegildo de Ruvo, Federico Guerra, Marco Rebecchi, Chiara Lanzillo, Matteo Anselmino, Antonio Castro, Federico Turreni, Maria Penco, Massimo Volpe, Alessandro Capucci, Fiorenzo Gaita
BACKGROUND: Risk stratification in asymptomatic patients remains by far the most important yet unresolved clinical problem in the Brugada syndrome (BrS). OBJECTIVES: This study sought to analyze the usefulness of electrocardiographic parameters as markers of sudden cardiac death (SCD) in BrS. METHODS: This study analyzed data from 347 consecutive patients (78.4% male; mean age 45 ± 13.1 years) with spontaneous type 1 BrS by ECG parameters but with no history of cardiac arrest (including 91...
March 29, 2016: Journal of the American College of Cardiology
Graziano Domenico Luigi Crudele, Alberto Amadasi, Laura Marasciuolo, Alessandra Rancati, Guendalina Gentile, Riccardo Zoja
The inflammatory involvement of vital organs may represent a dangerous and life-threatening situation: in particular, the inflammation of the myocardial tissue of the heart may lead to severe consequences since the clinical history of the disease may be completely asymptomatic, any clinical sign may be lacking, thus preventing correct diagnosis and treatment. This may occur even in the case of myocarditis and may lead to unexpected death whose cause can be assessable only by means of a thorough histopathological examination...
March 2016: Legal Medicine
Andrea Mazzanti, Riccardo Maragna, Alessandro Faragli, Nicola Monteforte, Raffaella Bloise, Mirella Memmi, Valeria Novelli, Paola Baiardi, Vincenzo Bagnardi, Susan P Etheridge, Carlo Napolitano, Silvia G Priori
BACKGROUND: Long QT syndrome type 3 (LQT3) is a lethal disease caused by gain-of-function mutations in the SCN5A gene, coding for the alpha-subunit of the sodium channel NaV1.5. Mexiletine is used to block late sodium current and to shorten QT interval in LQT3 patients. OBJECTIVES: The aim of this study was to determine whether mexiletine prevents arrhythmic events (arrhythmic syncope, aborted cardiac arrest, or sudden cardiac death) in LQT3 patients. METHODS: The endpoint of this retrospective cohort study, which studied consecutive LQT3 patients who were referred to our center and treated with mexiletine, was to evaluate the antiarrhythmic efficacy of mexiletine by comparing the number of arrhythmic events per patient and the annual rate of arrhythmic events during observation periods of equal duration before and after the beginning of therapy with mexiletine...
March 8, 2016: Journal of the American College of Cardiology
Stephen C Harmer, Andrew Tinker
Long QT syndrome refers to a characteristic abnormality of the electrocardiogram and it is associated with a form of ventricular tachycardia known as torsade-de-pointes and sudden arrhythmic death. It can occur as part of a hereditary syndrome or can be acquired usually because of drug administration. Here we review recent genetic, molecular and cellular discoveries and outline how they have furthered our understanding of this disease. Specifically we focus on compound mutations, genome wide association studies of QT interval, modifier genes and the therapeutic implications of this recent work...
July 1, 2016: Biological Chemistry
Hiroaki Tanaka, Shinji Katsuragi, Kazuhiro Osato, Junichi Hasegawa, Masahiko Nakata, Takeshi Murakoshi, Jun Yoshimatsu, Akihiko Sekizawa, Naohiro Kanayama, Isamu Ishiwata, Tomoaki Ikeda
BACKGROUND: Cardiovascular diseases (CVD), both genetic and acquired, increase the risk of maternal death (MD) unless proper genetic/clinical counseling is provided and a multidisciplinary approach is adopted during pregnancy. In recent decades, there has been a significant increase in the number of women with CVD of child-bearing age and in the incidence of pregnancy among relatively older women. However, the impact of this phenomenon on MD has not been carefully investigated. METHODS: This retrospective study compares the incidence and etiology of maternal deaths related to cardiovascular disease (MD-CVD) in Japan in 2010-2012 to that seen in 1991-1992...
February 15, 2016: Journal of Cardiology
Bence Patocskai, Hector Barajas-Martinez, Dan Hu, Zsolt Gurabi, István Koncz, Charles Antzelevitch
BACKGROUND: Early repolarization syndrome (ERS) is associated with polymorphic ventricular tachycardia (PVT) and ventricular fibrillation, leading to sudden cardiac death. OBJECTIVE: The present study tests the hypothesis that the transient outward potassium current (Ito)-blocking effect of phosphodiesterase-3 (PDE-3) inhibitors plays a role in reversing repolarization heterogeneities responsible for arrhythmogenesis in experimental models of ERS. METHODS: Transmembrane action potentials (APs) were simultaneously recorded from epicardial and endocardial regions of coronary-perfused canine left ventricular (LV) wedge preparations, together with a transmural pseudo-electrocardiogram...
June 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Koshi Kinoshita, Hiroyuki Takahashi, Yukiko Hata, Kohki Nishide, Mario Kato, Hiroki Fujita, Sho Yoshida, Kazutaka Murai, Koichi Mizumaki, Kunihiro Nishida, Yoshiaki Yamaguchi, Masanobu Kano, Toshihide Tabata, Naoki Nishida
BACKGROUND: Brugada syndrome (BrS) is an inherited lethal arrhythmic disorder characterized by syncope and sudden cardiac death from ventricular tachyarrhythmias. Here we identified a novel K817E mutation of SCN5A gene in a man with type 1 BrS electrocardiogram pattern using next-generation sequencing targeted for 73 cardiac disorder-related genes. SCN5A encodes the α-subunit of NaV1.5 voltage-gated Na(+) channel, and some of its mutations are linked to BrS. The proband had no mutation in any of the other arrhythmia-related genes sequenced...
May 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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