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Inherited Arrhythmias

Yuka Mizusawa
Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along with coronary heart disease (CHD) are three most common disorders that predispose adults to sudden cardiac death. In the last three decades, causal genes in inherited arrhythmias have been successfully identified. At the same time, it has become evident that the genetic architectures are more complex than previously known. Recent advancements in DNA sequencing technology (next generation sequencing) have enabled us to study such complex genetic traits...
October 2016: Journal of Arrhythmia
Can Hasdemir
Atrial arrhythmias are being increasingly recognized in inherited arrhythmogenic disorders particularly in patients with Brugada syndrome and short QT syndrome. Atrial arrhythmias in inherited arrhythmogenic disorders have significant epidemiologic, clinical, and prognostic implications. There has been progress in the understanding of underlying genetic characteristics and the mechanistic link between atrial arrhythmias and inherited arrhythmogenic disorders. Appropriate management of these patients is of paramount importance...
October 2016: Journal of Arrhythmia
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
Taisuke Ishikawa, Yukiomi Tsuji, Naomasa Makita
Bradyarrhythmia is a common heart rhythm abnormality comprising number of diseases and is associated with decreased heart rate due to the failure of action potential generation and propagation at the sinus node. Permanent pacemaker implantation is often used therapeutically to compensate for decreased heart rate and cardiac output. The vast majority of bradyarrhythmia cases are attributable either to aging or to structural abnormalities of the cardiac conduction system, caused by underlying structural heart disease...
October 2016: Journal of Arrhythmia
Daniel F Gudbjartsson, Hilma Holm, Patrick Sulem, Gisli Masson, Asmundur Oddsson, Olafur Th Magnusson, Jona Saemundsdottir, Hafdis Th Helgadottir, Hannes Helgason, Hrefna Johannsdottir, Solveig Gretarsdottir, Sigurjon A Gudjonsson, Inger Njølstad, Maja-Lisa Løchen, Larry Baum, Ronald C W Ma, Gunnlaugur Sigfusson, Augustine Kong, Guðmundur Thorgeirsson, Jon Th Sverrisson, Unnur Thorsteinsdottir, Kari Stefansson, David O Arnar
AIMS: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in man, causing substantial morbidity and mortality with a major worldwide public health impact. It is increasingly recognized as a highly heritable condition. This study aimed to determine genetic risk factors for early-onset AF. METHODS AND RESULTS: We sequenced the whole genomes of 8453 Icelanders and imputed genotypes of the 25.5 million sequence variants we discovered into 1799 Icelanders with early-onset AF (diagnosed before 60 years of age) and 337 453 controls...
October 14, 2016: European Heart Journal
James Rush Priest, Charles Gawad, Kristopher M Kahlig, Joseph K Yu, Thomas O'Hara, Patrick M Boyle, Sridharan Rajamani, Michael J Clark, Sarah T K Garcia, Scott Ceresnak, Jason Harris, Sean Boyle, Frederick E Dewey, Lindsey Malloy-Walton, Kyla Dunn, Megan Grove, Marco V Perez, Norma F Neff, Richard Chen, Katsuhide Maeda, Anne Dubin, Luiz Belardinelli, John West, Christian Antolik, Daniela Macaya, Thomas Quertermous, Natalia A Trayanova, Stephen R Quake, Euan A Ashley
Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). Rapid genome sequencing suggested a variant in the sodium channel NaV1.5 encoded by SCN5A, NM_000335:c.5284G > T predicting p.(V1762L), but read depth was insufficient to be diagnostic. Exome sequencing of the trio confirmed read ratios inconsistent with Mendelian inheritance only in the proband...
October 11, 2016: Proceedings of the National Academy of Sciences of the United States of America
U Lakshmanadoss, A Mertens, M Gallagher, I Kutinsky, B Williamson
Inherited arrhythmia syndromes are a known, albeit rare, cause of sudden cardiac arrest which may present with characteristic electrocardiogram changes in patients with structurally normal heart. There are a variety of distinct arrhythmogenic syndromes that arise from mutations in voltage gated sodium channels, resulting in either gain or loss of function. We describe a patient with a primary inherited arrhythmia syndrome which presented as sudden cardiac arrest. Further workup revealed that her arrest was due to a combination of Brugada syndrome and Long QT3 syndrome secondary to a deleterious mutation of voltage-gated, sodium channel, type V alpha subunit (SCN5A Thr1709Met)...
March 2016: Indian Pacing and Electrophysiology Journal
Christian Steinberg, Gareth J Padfield, Jean Champagne, Shubhayan Sanatani, Paul Angaran, Jason G Andrade, Jason D Roberts, Jeffrey S Healey, Vijay S Chauhan, David H Birnie, Mikyla Janzen, Brenda Gerull, George J Klein, Richard Leather, Christopher S Simpson, Colette Seifer, Mario Talajic, Martin Gardner, Andrew D Krahn
BACKGROUND: Unexplained cardiac arrest (UCA) may be explained by inherited arrhythmia syndromes. The Cardiac Arrest Survivors With Preserved Ejection Fraction Registry prospectively assessed first-degree relatives of UCA or sudden unexplained death victims to screen for cardiac abnormalities. METHODS AND RESULTS: Around 398 first-degree family members (186 UCA, 212 sudden unexplained death victims' relatives; mean age, 44±17 years) underwent extensive cardiac workup, including ECG, signal averaged ECG, exercise testing, cardiac imaging, Holter-monitoring, and selective provocative drug testing with epinephrine or procainamide...
September 2016: Circulation. Arrhythmia and Electrophysiology
Juan Sieira, Gregory Dendramis, Pedro Brugada
Brugada syndrome is an inherited disease characterized by an increased risk of sudden cardiac death owing to ventricular arrhythmias in the absence of structural heart disease. Since the first description of the syndrome >20 years ago, considerable advances have been made in our understanding of the underlying mechanisms involved and the strategies to stratify at-risk patients. The development of repolarization-depolarization abnormalities in patients with Brugada syndrome can involve genetic alterations, abnormal neural crest cell migration, improper gap junctional communication, or connexome abnormalities...
September 15, 2016: Nature Reviews. Cardiology
Kafa Walweel, Ye Win Oo, Derek R Laver
Cardiac output and rhythm depend on the release and the take-up of calcium from the sarcoplasmic reticulum (SR). Excessive diastolic calcium leak from the SR due to dysfunctional calcium release channels (RyR2) contributes to the formation of delayed after-depolarisations, which underlie the fatal arrhythmias that occur in heart failure and inherited syndromes. Calmodulin (CaM) is a calcium-binding protein that regulates target proteins and acts as a calcium sensor. CaM is comprised of two calcium binding EF-hand domains and a flexible linker...
September 14, 2016: Clinical and Experimental Pharmacology & Physiology
Nobue Yagihara, Hiroshi Watanabe, Phil Barnett, Laetitia Duboscq-Bidot, Atack C Thomas, Ping Yang, Seiko Ohno, Kanae Hasegawa, Ryozo Kuwano, Stéphanie Chatel, Richard Redon, Jean-Jacques Schott, Vincent Probst, Tamara T Koopmann, Connie R Bezzina, Arthur A M Wilde, Yukiko Nakano, Takeshi Aiba, Yoshihiro Miyamoto, Shiro Kamakura, Dawood Darbar, Brian S Donahue, Daichi Shigemizu, Toshihiro Tanaka, Tatsuhiko Tsunoda, Masayoshi Suda, Akinori Sato, Tohru Minamino, Naoto Endo, Wataru Shimizu, Minoru Horie, Dan M Roden, Naomasa Makita
BACKGROUND: Mutations in the coding sequence of SCN5A, which encodes the cardiac Na(+) channel α subunit, have been associated with inherited susceptibility to various arrhythmias. Variable expression of SCN5A is a possible mechanism responsible for this pleiotropic effect; however, it is unknown whether variants in the promoter and regulatory regions of SCN5A also modulate the risk of arrhythmias. METHODS AND RESULTS: We resequenced the core promoter region of SCN5A and the regulatory regions of SCN5A transcription in 1298 patients with arrhythmia phenotypes (atrial fibrillation, n=444; sinus node dysfunction, n=49; conduction disease, n=133; Brugada syndrome, n=583; and idiopathic ventricular fibrillation, n=89)...
September 2016: Journal of the American Heart Association
Edelmann J, Dobosz T, Sobieszczanska M, Kawecka-Negrusz M, Dreßler J, Nastainczyk-Wulf M
Congenital long QT-syndrome (LQTS) is an inherited cardiac arrhythmia, which is characterized by a prolonged QT interval which predisposes to sudden cardiac death due to ventricular arrhythmias. The altered functions are based on different mutations in LQTS-associated genes. In this study, we performed a mutation analysis for the detection of 125 LQTS-associated single nucleotide polymorphisms (SNPs) focused on the genes KCNQ1, KCNH2, and SCN5A by using the SNaPshot multiplex minisequencing technique. Furthermore, we investigated 152 autopsy-negative cases from younger adults and infants, as well as samples from patients with clinically suspicion for LQTS, in which we found two types of variations...
September 9, 2016: International Journal of Legal Medicine
Fausto Barlocco, Iacopo Olivotto
No abstract text is available yet for this article.
August 30, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Bence Patocskai, Charles Antzelevitch
INTRODUCTION: Brugada syndrome (BrS) is an inherited cardiac arrhythmia syndrome characterized by prominent J waves appearing as distinct coved type ST segment elevation in the right precordial leads of the ECG. It is associated with a high risk for sudden cardiac death. AREAS COVERED: We discuss 1) ECG manifestations of BrS which can be unmasked or aggravated by sodium channel blockers, febrile states, vagotonic agents, as well as tricyclic and tetracyclic antidepressants; 2) Genetic basis of BrS; 3) Ionic and cellular mechanisms underlying BrS; 4) Therapy involving devices including an implantable cardioverter defibrillator (ICD); 5) Therapy involving radiofrequency ablation; and 6) Therapy involving pharmacological therapy which is aimed at producing an inward shift in the balance of the currents active during phase 1 of the right ventricular action potential either by boosting calcium channel current (isoproterenol, cilostazol and milrinone) or by inhibition of transient outward current Ito (quinidine, bepridil and the Chinese herb extract Wenxin Keli)...
2015: Expert Opinion on Orphan Drugs
Lia Crotti, Annukka M Lahtinen, Carla Spazzolini, Elisa Mastantuono, Maria Cristina Monti, Caterina Morassutto, Gianfranco Parati, Marshall Heradien, Althea Goosen, Peter Lichtner, Thomas Meitinger, Paul A Brink, Kimmo Kontula, Heikki Swan, Peter J Schwartz
BACKGROUND: Long-QT syndrome is an inherited cardiac channelopathy characterized by delayed repolarization, risk of life-threatening arrhythmia, and significant clinical variability even within families. Three single-nucleotide polymorphisms (SNPs) in the 3' untranslated region of KCNQ1 were recently suggested to be associated with suppressed gene expression and hence decreased disease severity when located on the same haplotype with a disease-causing KCNQ1 mutation. We sought to replicate this finding in a larger and a genetically more homogeneous population of KCNQ1 mutation carriers...
August 2016: Circulation. Cardiovascular Genetics
S A Immanuel, A Sadrieh, M Baumert, J P Couderc, W Zareba, A P Hill, J I Vandenberg
Long QT syndrome (LQTS) is an inherited disorder associated with prolongation of the QT/QTc interval on the surface electrocardiogram (ECG) and a markedly increased risk of sudden cardiac death due to cardiac arrhythmias. Up to 25% of genotype-positive LQTS patients have QT/QTc intervals in the normal range. These patients are, however, still at increased risk of life-threatening events compared to their genotype-negative siblings. Previous studies have shown that analysis of T-wave morphology may enhance discrimination between control and LQTS patients...
September 2016: Physiological Measurement
Andrew T Gomez, Jordan M Prutkin, Ashwin L Rao
CONTEXT: The congenital long QT syndrome (LQTS) is an inherited channelopathy known for its electrocardiographic manifestations of QT prolongation and its hallmark arrhythmia, torsades de pointes (TdP). TdP can lead to syncope or sudden death and is often precipitated by triggers such as physical exertion or emotional stress. Given that athletes may be at particular risk for adverse outcomes, those suspected of having LQTS should be evaluated, risk stratified, treated, and receive appropriate counseling by providers with sufficient expertise according to the latest guidelines...
August 1, 2016: Sports Health
Henriette Berg Ammundsen, Kim Ekelund, Arash Afshari, Charlotte Krebs Albrechtsen
Brugada syndrome (BS) is an inherited cardiac disease with increased risk of ventricular tachyarrythmias, cardiac arrest and sudden death. BS is diagnosed on various criteria including specific electrocardiographic abnormalities in a structurally normal heart. Many drugs have been reported to induce fatal arrhythmias in patients with BS and in particular sodium channel blockers i.e. local anaesthetics such as bupivacaine. We report the anaesthetic management of two women with BS during caesarean section and provide a general discussion on the use of bupivacain for neuraxial blockade for patients with BS...
July 18, 2016: Ugeskrift for Laeger
John Garcia, Jackie Tahiliani, Nicole Marie Johnson, Sienna Aguilar, Daniel Beltran, Amy Daly, Emily Decker, Eden Haverfield, Blanca Herrera, Laura Murillo, Keith Nykamp, Scott Topper
Advances in DNA sequencing have made large, diagnostic gene panels affordable and efficient. Broad adoption of such panels has begun to deliver on the promises of personalized medicine, but has also brought new challenges such as the presence of unexpected results, or results of uncertain clinical significance. Genetic analysis of inherited cardiac conditions is particularly challenging due to the extensive genetic heterogeneity underlying cardiac phenotypes, and the overlapping, variable, and incompletely penetrant nature of their clinical presentations...
2016: Frontiers in Cardiovascular Medicine
Gaetano Fassini, Sergio Conti, Massimo Moltrasio, Anna Maltagliati, Fabrizio Tundo, Stefania Riva, Antonio Dello Russo, Michela Casella, Benedetta Majocchi, Martina Zucchetti, Eleonora Russo, Vittoria Marino, Mauro Pepi, Claudio Tondo
AIMS: Pulmonary veins (PVs) isolation is the cornerstone of atrial fibrillation (AF) ablation and can be achieved either by conventional radiofrequency ablation or by cryoenergy. Left atrial appendage (LAA) closure has been proposed as alternative treatment to vitamin K antagonists (VKA). We aimed to evaluate the feasibility of combining cryoballoon (CB) ablation and LAA occlusion in patients with AF and a high thromboembolic risk or contraindication to antithrombotic therapy. METHODS AND RESULTS: Thirty-five patients (28 males, 74 ± 2 years) underwent CB ablation...
July 11, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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