Read by QxMD icon Read


Lois Choy, Jie Ming Yeo, Vivian Tse, Shing Po Chan, Gary Tse
The mouse is the second mammalian species, after the human, in which substantial amount of the genomic information has been analyzed. With advances in transgenic technology, mutagenesis is now much easier to carry out in mice. Consequently, an increasing number of transgenic mouse systems have been generated for the study of cardiac arrhythmias in ion channelopathies and cardiomyopathies. Mouse hearts are also amenable to physical manipulation such as coronary artery ligation and transverse aortic constriction to induce heart failure, radiofrequency ablation of the AV node to model complete AV block and even implantation of a miniature pacemaker to induce cardiac dyssynchrony...
September 2016: IJC Heart & Vasculature
Nobuyuki Murakoshi, Kazutaka Aonuma
Drug treatment and/or implantable cardioverter defibrillator (ICD) implantation are the most widely accepted first-line therapies for channelopathic patients who have recurrent syncope, sustained ventricular tachycardia (VT), or documented ventricular fibrillation (VF), or are survivors of cardiac arrest. In recent years, there have been significant advances in mapping techniques and ablation technology, coupled with better understanding of the mechanisms of ventricular tachyarrhythmia in channelopathies. Catheter ablation has provided important insights into the role of the Purkinje network and the right ventricular outflow tract in the initiation and perpetuation of VT/VF, and has evolved as a promising treatment modality for ventricular tachyarrhythmia even in channelopathies...
October 2016: Journal of Arrhythmia
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
Meghan MacKenzie, Richard Hall
PURPOSE: Knowledge of how alterations in pharmacogenomics and pharmacogenetics may affect drug therapy in the intensive care unit (ICU) has received little study. We review the clinically relevant application of pharmacogenetics and pharmacogenomics to drugs and conditions encountered in the ICU. SOURCE: We selected relevant literature to illustrate the important concepts contained within. PRINCIPAL FINDINGS: Two main approaches have been used to identify genetic abnormalities - the candidate gene approach and the genome-wide approach...
October 17, 2016: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
Sarenur Gokben, Huseyin Onay, Sanem Yilmaz, Tahir Atik, Gul Serdaroglu, Hande Tekin, Ferda Ozkinay
We investigated the genetic background of early-onset epileptic encephalopathy (EE) using targeted next generation sequencing analysis. Thirty sporadic or familial cases associated with early-onset EE were included. An early-onset EE gene panel including sixteen genes (ARX, CDKL5, CNTNAP2, FOLR1, FOXG1, LAMC3, MBD5, MECP2, NTNG1, PCDH19, PNKP, SCN1A, SCN1B, SCN2A, STXBP1, KCNQ2) was constituted. Nine definite and three potential causal mutations in 30 cases (40 %) were identified. All mutations presented heterozygously except one...
October 12, 2016: Acta Neurologica Belgica
Rui Fan, Ruirui Ji, Wenxin Zou, Guoliang Wang, Hu Wang, Daniel James Penney, Jin Jun Luo, Yuxin Fan
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies...
October 2016: Experimental and Therapeutic Medicine
Yashwant Agrawal, Sourabh Aggarwal, Jagadeesh K Kalavakunta, Vishal Gupta
Brugada syndrome (BS), a life-threatening channelopathy associated with reduced inward sodium current due to dysfunctional sodium channels, is characterized by ST-segment elevation with downsloping "coved type" (type 1) or "saddle back" (type 2) pattern in V1-V3 precordial chest leads (1, 2). Brugada phenocopy, a term describing conditions inducing Brugada-like pattern of electrocardiogram (EKG) manifestations in patients without true BS, is an emerging condition (3). We describe a case series of Brugada phenocopy with hyponatremia...
October 2016: Journal of the Saudi Heart Association
Valeria Novelli, Patrick Gambelli, Mirella Memmi, Carlo Napolitano
No abstract text is available yet for this article.
2016: Frontiers in Cardiovascular Medicine
Sofie Lindgren Christiansen, Christin Løth Hertz, Laura Ferrero-Miliani, Morten Dahl, Peter Ejvin Weeke, LuCamp, Gyda Lolk Ottesen, Rune Frank-Hansen, Henning Bundgaard, Niels Morling
In forensic medicine, one-third of the sudden deaths remain unexplained after medico-legal autopsy. A major proportion of these sudden unexplained deaths (SUD) are considered to be caused by inherited cardiac diseases. Sudden cardiac death (SCD) may be the first manifestation of these diseases. The purpose of this study was to explore the yield of next-generation sequencing of genes associated with SCD in a cohort of SUD victims. We investigated 100 genes associated with cardiac diseases in 61 young (1-50 years) SUD cases...
September 21, 2016: European Journal of Human Genetics: EJHG
Thomas M Roston, Wenting Guo, Andrew D Krahn, Ruiwu Wang, Filip Van Petegem, Shubhayan Sanatani, S R Wayne Chen, Anna Lehman
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy usually caused by gain-of-function mutations ryanodine receptor type-2 (RyR2). Left ventricular non-compaction (LVNC) is an often genetic cardiomyopathy. A rare LVNC-CPVT overlap syndrome may be caused by exon 3 deletion in RyR2. We sought to characterize the phenotypic spectrum and molecular basis of a novel RyR2 mutation identified in a family with both conditions. METHODS: Several members of an affected family underwent clinical and genetic assessments...
September 8, 2016: Journal of Electrocardiology
Raghav Murthy, Matthew R Williams, James C Perry, Suzanne Shepard, Daniel DiBardino
The primary and secondary prevention of sudden cardiac death resulting from malignant arrhythmia, channelopathy, and hypertrophic cardiomyopathy often requires the implantation of automatic internal cardiac defibrillators (AICDs) in the pediatric population. In young patients, the small size of the systemic veins, complex anatomy of congenital heart disease, and body habitus often preclude safe and durable transvenous placement of the AICD coil, requiring innovative methods to circumvent this problem. This report describes the technique used at Rady Children's Hospital San Diego/UCSD for the epicardial placement of an ICD system with a transvenous ICD coil placed between the aorta and pulmonary artery, thereby producing a stable location and excellent coil-to-can vector for successful defibrillation...
October 2016: Annals of Thoracic Surgery
Hayrettin Hakan Aykan, Tevfik Karagoz, Mustafa Gulgun, Ilker Ertugrul, Ebru Aypar, Sema Ozer, Dursun Alehan, Alpay Celiker, Suheyla Ozkutlu
BACKGROUND: Despite concerns about complications with the implantable cardioverter-defibrillator (ICD), but it is effective for the prevention of sudden cardiac death. We aimed to analyze our mid-term experience with ICD in children and young adults. METHODS: This retrospective study included patients who were implanted with an ICD between 2001 and 2014. Demographic characteristics, clinical information, shock features and complications for all patients with ICD were analyzed...
September 13, 2016: Pacing and Clinical Electrophysiology: PACE
Fiona M Baumer, Jurriaan M Peters, Christelle M El Achkar, Phillip L Pearl
Voltage-gated sodium channels (Nav) are critical regulators of neuronal excitability. Genes for the α-subunits of three sodium channel subtypes-SCN1A, SCN2A, and SCN3A-are all located on chromosome 2q24. A full-term boy with an unremarkable birth history presented at 1 month of age with unusual movements that had started on day of life 2. Exam was notable for lack of visual attention, hypotonia, and hyperreflexia. Electroencephalogram (EEG) showed an invariant burst suppression with multifocal spikes, ictal episodes with bicycling movements associated with buildups of rhythmic activity, and epileptic spasms...
March 2016: Journal of Pediatric Epilepsy
P B Persson, A Bondke Persson
No abstract text is available yet for this article.
November 2016: Acta Physiologica
C E Morris, B Joos
Sick excitable cells (ie, Nav channel-expressing cells injured by trauma, ischemia, inflammatory, and other conditions) typically exhibit "acquired sodium channelopathies" which, we argue, reflect bleb-damaged membranes rendering their Nav channels "leaky." The situation is excitotoxic because untreated Nav leak exacerbates bleb damage. Fast Nav inactivation (a voltage-independent process) is so tightly coupled, kinetically speaking, to the inherently voltage-dependent process of fast activation that when bleb damage accelerates and thus left-shifts macroscopic fast activation, fast inactivation accelerates to the same extent...
2016: Current Topics in Membranes
E G Moczydlowski
This review glances at the voltage-gated sodium (Na(+)) channel (NaV) from the skewed perspective of natural history and the history of ideas. Beginning with the earliest natural philosophers, the objective of biological science and physiology was to understand the basis of life and discover its intimate secrets. The idea that the living state of matter differs from inanimate matter by an incorporeal spirit or mystical force was central to vitalism, a doctrine based on ancient beliefs that persisted until the last century...
2016: Current Topics in Membranes
RoseAnn L Scheller, Laurie Johnson, Angela Lorts, Thomas D Ryan
Sudden cardiac arrest (SCA) in the pediatric population is a rare and potentially devastating occurrence. An understanding of the differential diagnosis for the etiology of the cardiac arrest allows for the most effective emergency care and provides the patient with the best possible outcome. Pediatric SCA can occur with or without prodromal symptoms and may occur during exercise or rest. The most common cause is arrhythmia secondary to an underlying channelopathy, cardiomyopathy, or myocarditis. After stabilization, evaluation should include electrocardiogram, chest radiograph, and echocardiogram...
September 2016: Pediatric Emergency Care
L Eckardt, T Deneke
The 2015 European Society of Cardiology Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death is an update of the former 2006 European/American guidelines. This new consensus document gives a detailed overview on prevention and therapy of ventricular arrhythmias and sudden cardiac death. This includes detailed discussion of channelopathies and various cardiomyopathies. Gaps in evidence are identified and also discussed. DNA analysis and postmortem assessment in sudden cardiac death victims is for the first time part of these new recommendations...
September 2016: Herzschrittmachertherapie & Elektrophysiologie
Eric G Bend, Yue Si, David A Stevenson, Pinar Bayrak-Toydemir, Tara M Newcomb, Erik M Jorgensen, Kathryn J Swoboda
OBJECTIVE: To perform genotype-phenotype analysis in an infant with congenital arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore the mechanism of pathogenicity using a Caenorhabditis elegans model. METHODS: We performed whole-exome sequencing in a preterm neonate with congenital arthrogryposis and a severe life-threatening clinical course. We examined the mechanism of pathogenicity of the associated NALCN mutation by engineering the orthologous mutation into the nematode C elegans using CRISPR-Cas9...
September 13, 2016: Neurology
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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"