Canadian Journal of Cardiology, ISSN 0828-282X, 2016, Volume 33, Issue 4, pp. 554.e9 - 554.e11
Abstract We present a family from a founder population referred for cardiogenetic evaluation for atrioventricular block in 3 siblings. Genetic testing,...
Cardiovascular | CARDIAC & CARDIOVASCULAR SYSTEMS | Atrioventricular Block - genetics | Genetic Testing | Humans | Middle Aged | Male | NAV1.5 Voltage-Gated Sodium Channel - metabolism | Mitral Valve Insufficiency - diagnosis | Mitral Valve Insufficiency - genetics | DNA - genetics | DNA Mutational Analysis | Pedigree | Aged, 80 and over | Electrocardiography | Adult | Family | Female | Aged | Mutation | NAV1.5 Voltage-Gated Sodium Channel - genetics | Atrioventricular Block - diagnosis
Cardiovascular | CARDIAC & CARDIOVASCULAR SYSTEMS | Atrioventricular Block - genetics | Genetic Testing | Humans | Middle Aged | Male | NAV1.5 Voltage-Gated Sodium Channel - metabolism | Mitral Valve Insufficiency - diagnosis | Mitral Valve Insufficiency - genetics | DNA - genetics | DNA Mutational Analysis | Pedigree | Aged, 80 and over | Electrocardiography | Adult | Family | Female | Aged | Mutation | NAV1.5 Voltage-Gated Sodium Channel - genetics | Atrioventricular Block - diagnosis
Journal Article
Heart Rhythm, ISSN 1547-5271, 2014, Volume 11, Issue 4, pp. 653 - 654
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2017, Volume 69, Issue 17, pp. 2134 - 2145
Abstract Background Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease...
Cardiovascular | Internal Medicine | cardiomyopathy | next-generation sequencing | channelopathy | molecular autopsy | unexplained sudden death | CARDIAC & CARDIOVASCULAR SYSTEMS | VARIANTS | ABNORMALITIES | RISK | YOUNG | DISEASE | CARDIAC DEATH | ASSOCIATION | Young Adult | Genetic Testing | Humans | Adolescent | Adult | Female | Male | Death, Sudden, Cardiac - etiology | Child | Medical colleges | Medical research | Genetic disorders | Analysis | Medicine, Experimental | Research institutes | Cardiology | Genetic screening | Medical genetics | Heart | Panels | Connectin | Cardiomyopathy | Disorders | Association analysis | Ryanodine receptors | Cardiovascular disease | Family medical history | Assaying | Risk factors | Incidence | Alignment | Autopsy | Classification | Inbreeding | Genetics | Libraries | Diagnosis | Bioinformatics | Probes | Deoxyribonucleic acid--DNA | Evaluation | Pathogens | Echocardiography | Baits | Abnormalities | Mortality | Nucleic acids | Pathogenicity | Studies | Hospitals | Sodium | Fibrosis | Death | Cardiovascular diseases | Circulation | Computer assisted instruction--CAI | Cardiac arrhythmia | Animal models | Electric contacts | Exons | Genes | Genomes | Agglomeration | Guidelines | Defibrillators | Syncope | Quality | Children | Heart diseases | Hum | Autopsies | Nucleotide sequence | Health risks | Data processing | Coronary artery disease | Magnetic resonance imaging | Resonance | Ventricle | Gene mapping | Index Medicus | Abridged Index Medicus | VUS, variant of unknown significance | MAF, minor allele frequency | SCD, sudden cardiac death | ACMG, American College of Medical Genetics | LQTS, long QT syndrome | BrS, Brugada syndrome | ACM, arrhythmogenic cardiomyopathy | CPVT, catecholaminergic polymorphic ventricular tachycardia | SADS, sudden arrhythmic death syndrome | Original Investigation
Cardiovascular | Internal Medicine | cardiomyopathy | next-generation sequencing | channelopathy | molecular autopsy | unexplained sudden death | CARDIAC & CARDIOVASCULAR SYSTEMS | VARIANTS | ABNORMALITIES | RISK | YOUNG | DISEASE | CARDIAC DEATH | ASSOCIATION | Young Adult | Genetic Testing | Humans | Adolescent | Adult | Female | Male | Death, Sudden, Cardiac - etiology | Child | Medical colleges | Medical research | Genetic disorders | Analysis | Medicine, Experimental | Research institutes | Cardiology | Genetic screening | Medical genetics | Heart | Panels | Connectin | Cardiomyopathy | Disorders | Association analysis | Ryanodine receptors | Cardiovascular disease | Family medical history | Assaying | Risk factors | Incidence | Alignment | Autopsy | Classification | Inbreeding | Genetics | Libraries | Diagnosis | Bioinformatics | Probes | Deoxyribonucleic acid--DNA | Evaluation | Pathogens | Echocardiography | Baits | Abnormalities | Mortality | Nucleic acids | Pathogenicity | Studies | Hospitals | Sodium | Fibrosis | Death | Cardiovascular diseases | Circulation | Computer assisted instruction--CAI | Cardiac arrhythmia | Animal models | Electric contacts | Exons | Genes | Genomes | Agglomeration | Guidelines | Defibrillators | Syncope | Quality | Children | Heart diseases | Hum | Autopsies | Nucleotide sequence | Health risks | Data processing | Coronary artery disease | Magnetic resonance imaging | Resonance | Ventricle | Gene mapping | Index Medicus | Abridged Index Medicus | VUS, variant of unknown significance | MAF, minor allele frequency | SCD, sudden cardiac death | ACMG, American College of Medical Genetics | LQTS, long QT syndrome | BrS, Brugada syndrome | ACM, arrhythmogenic cardiomyopathy | CPVT, catecholaminergic polymorphic ventricular tachycardia | SADS, sudden arrhythmic death syndrome | Original Investigation
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2016, Volume 68, Issue 13, pp. 1435 - 1448
Abstract Background Myocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle...
Cardiovascular | Internal Medicine | heart failure | electrocardiogram | QRS | left ventricular hypertrophy | genetic association study | REGULATORY DNA | MORTALITY | VOLTAGE | CARDIAC & CARDIOVASCULAR SYSTEMS | LEFT-VENTRICULAR HYPERTROPHY | GENOME | HEART | CARDIAC-HYPERTROPHY | DISEASE | DYSFUNCTION | Genome-Wide Association Study | Animals | Genetic Loci | Cardiomegaly - genetics | Humans | Genetic research | Heart failure | Statistical analysis | Cardiomyopathy | Mortality | Genomes | Gene expression | Experiments | Studies | Quality control | Stem cells | Gene loci | Binding sites | Deoxyribonucleic acid--DNA
Cardiovascular | Internal Medicine | heart failure | electrocardiogram | QRS | left ventricular hypertrophy | genetic association study | REGULATORY DNA | MORTALITY | VOLTAGE | CARDIAC & CARDIOVASCULAR SYSTEMS | LEFT-VENTRICULAR HYPERTROPHY | GENOME | HEART | CARDIAC-HYPERTROPHY | DISEASE | DYSFUNCTION | Genome-Wide Association Study | Animals | Genetic Loci | Cardiomegaly - genetics | Humans | Genetic research | Heart failure | Statistical analysis | Cardiomyopathy | Mortality | Genomes | Gene expression | Experiments | Studies | Quality control | Stem cells | Gene loci | Binding sites | Deoxyribonucleic acid--DNA
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2014, Volume 64, Issue 8, pp. 745 - 756
Abstract Background Familial forms of primary sinus bradycardia have sometimes been attributed to mutations in HCN4 , SCN5A , and ANK2 . In these studies, no...
Cardiovascular | Internal Medicine | HCN4 | sinus bradycardia | exome sequencing | genetics | ion channel | left ventricular noncompaction cardiomyopathy | sinus bradycardia | GENE-MUTATIONS | CARDIAC & CARDIOVASCULAR SYSTEMS | BARTH-SYNDROME | SHORT READ ALIGNMENT | DILATED CARDIOMYOPATHY | SINOATRIAL NODE | SICK SINUS SYNDROME | ATRIAL-FIBRILLATION | PACEMAKER CHANNELS | NON-COMPACTION | SEQUENCING DATA | Cricetulus | Humans | Middle Aged | Male | Sick Sinus Syndrome - diagnostic imaging | Exome | Young Adult | Heart Defects, Congenital - genetics | Heart Defects, Congenital - diagnostic imaging | DNA Mutational Analysis | Ultrasonography | Adult | Female | Sick Sinus Syndrome - genetics | CHO Cells | Genetic Linkage | Syndrome | Potassium Channels - genetics | Muscle Proteins - genetics | Animals | Membrane Potentials | Adolescent | Aged | Sick Sinus Syndrome - congenital | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels - genetics | Sects | Medical colleges | Bradycardia | Genetic aspects | Cardiomyopathy | Heart diseases
Cardiovascular | Internal Medicine | HCN4 | sinus bradycardia | exome sequencing | genetics | ion channel | left ventricular noncompaction cardiomyopathy | sinus bradycardia | GENE-MUTATIONS | CARDIAC & CARDIOVASCULAR SYSTEMS | BARTH-SYNDROME | SHORT READ ALIGNMENT | DILATED CARDIOMYOPATHY | SINOATRIAL NODE | SICK SINUS SYNDROME | ATRIAL-FIBRILLATION | PACEMAKER CHANNELS | NON-COMPACTION | SEQUENCING DATA | Cricetulus | Humans | Middle Aged | Male | Sick Sinus Syndrome - diagnostic imaging | Exome | Young Adult | Heart Defects, Congenital - genetics | Heart Defects, Congenital - diagnostic imaging | DNA Mutational Analysis | Ultrasonography | Adult | Female | Sick Sinus Syndrome - genetics | CHO Cells | Genetic Linkage | Syndrome | Potassium Channels - genetics | Muscle Proteins - genetics | Animals | Membrane Potentials | Adolescent | Aged | Sick Sinus Syndrome - congenital | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels - genetics | Sects | Medical colleges | Bradycardia | Genetic aspects | Cardiomyopathy | Heart diseases
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2014, Volume 63, Issue 3, pp. 259 - 266
Objectives This study aimed to identify the genetic defect in a family with idiopathic ventricular fibrillation (IVF) manifesting in childhood and adolescence....
Cardiovascular | Internal Medicine | idiopathic ventricular fibrillation | ventricular arrhythmia | exome sequencing | genetics | calmodulin | CARDIAC & CARDIOVASCULAR SYSTEMS | LONG-QT SYNDROME | CONSTRAINT | PENETRANCE | CARDIAC-ARREST | CHANNEL | ALIGNMENT | YEAST CALMODULIN | DISEASE | BINDING | EXPRESSION | Calmodulin - genetics | Genetic Predisposition to Disease | Ventricular Fibrillation - metabolism | Humans | Male | DNA - genetics | Monomeric Clathrin Assembly Proteins - genetics | DNA Mutational Analysis | Pedigree | Adolescent | Electrocardiography | Ventricular Fibrillation - genetics | Ventricular Fibrillation - physiopathology | Female | Mutation | Child | Sects | Medical colleges | Abnormalities | Genetic research | Genetic aspects | Muscle contraction | Calmodulin | Cardiac arrhythmia | Heart attacks | Genes
Cardiovascular | Internal Medicine | idiopathic ventricular fibrillation | ventricular arrhythmia | exome sequencing | genetics | calmodulin | CARDIAC & CARDIOVASCULAR SYSTEMS | LONG-QT SYNDROME | CONSTRAINT | PENETRANCE | CARDIAC-ARREST | CHANNEL | ALIGNMENT | YEAST CALMODULIN | DISEASE | BINDING | EXPRESSION | Calmodulin - genetics | Genetic Predisposition to Disease | Ventricular Fibrillation - metabolism | Humans | Male | DNA - genetics | Monomeric Clathrin Assembly Proteins - genetics | DNA Mutational Analysis | Pedigree | Adolescent | Electrocardiography | Ventricular Fibrillation - genetics | Ventricular Fibrillation - physiopathology | Female | Mutation | Child | Sects | Medical colleges | Abnormalities | Genetic research | Genetic aspects | Muscle contraction | Calmodulin | Cardiac arrhythmia | Heart attacks | Genes
Journal Article
Heart Rhythm, ISSN 1547-5271, 2009, Volume 6, Issue 3, pp. 341 - 348
Background Patients carrying loss-of-function SCN5A mutations linked to Brugada syndrome (BrS) or progressive cardiac conduction disease (PCCD) are at risk of...
Cardiovascular | Genetics | Arrhythmia | Brugada syndrome | Conduction disorders | LONG-QT | LOCALIZATION | CARDIAC & CARDIOVASCULAR SYSTEMS | ST-SEGMENT-ELEVATION | RISK STRATIFICATION | CARDIAC TISSUE | INDIVIDUALS | BRUGADA-SYNDROME | NA+ CHANNEL | EXCITABILITY | CONTRIBUTES | Brugada Syndrome - genetics | Brugada Syndrome - diagnosis | Risk Assessment | Codon, Terminator - genetics | Brugada Syndrome - physiopathology | Humans | Middle Aged | Male | Sodium Channel Blockers - pharmacology | Death, Sudden, Cardiac - etiology | Mutation, Missense | Arrhythmias, Cardiac - physiopathology | Muscle Proteins - genetics | Phenotype | Heart Conduction System - physiopathology | Adult | Female | Arrhythmias, Cardiac - diagnosis | Sodium Channels - genetics | Mutation | Arrhythmias, Cardiac - genetics | NAV1.5 Voltage-Gated Sodium Channel | Heart failure | Geology, Stratigraphic | Genetic aspects | Universities and colleges | Cardiology | Cardiac patients | Bioengineering | Heart Conduction System | Arrhythmias, Cardiac | Death, Sudden, Cardiac | Life Sciences | Muscle Proteins | Computer Science | Cardiology and cardiovascular system | Sodium Channels | Signal and Image processing | Human health and pathology | Sodium Channel Blockers | Codon, Terminator | Engineering Sciences | Brugada Syndrome
Cardiovascular | Genetics | Arrhythmia | Brugada syndrome | Conduction disorders | LONG-QT | LOCALIZATION | CARDIAC & CARDIOVASCULAR SYSTEMS | ST-SEGMENT-ELEVATION | RISK STRATIFICATION | CARDIAC TISSUE | INDIVIDUALS | BRUGADA-SYNDROME | NA+ CHANNEL | EXCITABILITY | CONTRIBUTES | Brugada Syndrome - genetics | Brugada Syndrome - diagnosis | Risk Assessment | Codon, Terminator - genetics | Brugada Syndrome - physiopathology | Humans | Middle Aged | Male | Sodium Channel Blockers - pharmacology | Death, Sudden, Cardiac - etiology | Mutation, Missense | Arrhythmias, Cardiac - physiopathology | Muscle Proteins - genetics | Phenotype | Heart Conduction System - physiopathology | Adult | Female | Arrhythmias, Cardiac - diagnosis | Sodium Channels - genetics | Mutation | Arrhythmias, Cardiac - genetics | NAV1.5 Voltage-Gated Sodium Channel | Heart failure | Geology, Stratigraphic | Genetic aspects | Universities and colleges | Cardiology | Cardiac patients | Bioengineering | Heart Conduction System | Arrhythmias, Cardiac | Death, Sudden, Cardiac | Life Sciences | Muscle Proteins | Computer Science | Cardiology and cardiovascular system | Sodium Channels | Signal and Image processing | Human health and pathology | Sodium Channel Blockers | Codon, Terminator | Engineering Sciences | Brugada Syndrome
Journal Article
Cardiac Electrophysiology Clinics, ISSN 1877-9182, 2014, Volume 6, Issue 4, pp. 665 - 677
Commensurate with the central role of the cardiac sodium channel in cardiac electrical function, mutations in SCN5A have been associated with a broad spectrum...
Cardiovascular | GWAS | Noncoding region | Channelopathy | SCN5A | Mutation | Common variants | Polymorphisms | Rare cardiac disorders
Cardiovascular | GWAS | Noncoding region | Channelopathy | SCN5A | Mutation | Common variants | Polymorphisms | Rare cardiac disorders
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2014, Volume 63, Issue 6, pp. 549 - 559
Objectives The aim of this study was to investigate the modulatory effect of the coxsackie and adenovirus receptor (CAR) on ventricular conduction and...
Cardiovascular | Internal Medicine | ventricular fibrillation | single nucleotide polymorphism genetics | arrhythmia | ion channels | ischemia | ANKYRIN-G | CARDIAC & CARDIOVASCULAR SYSTEMS | VENTRICULAR-FIBRILLATION | DEATH | INTERCALATED DISC | TIGHT JUNCTION | HEART | INFARCTION | CAR | JUNCTION PROTEIN | EXPRESSION | Myocardial Ischemia - metabolism | Humans | Ventricular Function | Male | NAV1.5 Voltage-Gated Sodium Channel - metabolism | Arrhythmias, Cardiac - etiology | Carbenoxolone | Animals | Heart Conduction System - physiopathology | Myocardial Ischemia - complications | Myocardium - metabolism | HEK293 Cells | Myocardial Ischemia - physiopathology | Female | Mice | Coxsackie and Adenovirus Receptor-Like Membrane Protein - physiology | Sects | Medical colleges | Ischemia | Adenoviruses | Physiological aspects | Electron microscopy | Heart diseases | Cells | Cardiac arrhythmia | Heart attacks | Cardiomyopathy | Cardiovascular disease | Gene expression | Cell adhesion & migration | Studies | Proteins | Genotype & phenotype | Rodents | Cell cycle
Cardiovascular | Internal Medicine | ventricular fibrillation | single nucleotide polymorphism genetics | arrhythmia | ion channels | ischemia | ANKYRIN-G | CARDIAC & CARDIOVASCULAR SYSTEMS | VENTRICULAR-FIBRILLATION | DEATH | INTERCALATED DISC | TIGHT JUNCTION | HEART | INFARCTION | CAR | JUNCTION PROTEIN | EXPRESSION | Myocardial Ischemia - metabolism | Humans | Ventricular Function | Male | NAV1.5 Voltage-Gated Sodium Channel - metabolism | Arrhythmias, Cardiac - etiology | Carbenoxolone | Animals | Heart Conduction System - physiopathology | Myocardial Ischemia - complications | Myocardium - metabolism | HEK293 Cells | Myocardial Ischemia - physiopathology | Female | Mice | Coxsackie and Adenovirus Receptor-Like Membrane Protein - physiology | Sects | Medical colleges | Ischemia | Adenoviruses | Physiological aspects | Electron microscopy | Heart diseases | Cells | Cardiac arrhythmia | Heart attacks | Cardiomyopathy | Cardiovascular disease | Gene expression | Cell adhesion & migration | Studies | Proteins | Genotype & phenotype | Rodents | Cell cycle
Journal Article
Heart Rhythm, ISSN 1547-5271, 2010, Volume 7, Issue 2, pp. 238 - 248
Background The Brugada sign has been associated with mutations in SCN5A and with right ventricular structural abnormalities. Their role in the Brugada sign and...
Cardiovascular | Electrocardiography | Excitation | Arrhythmia | Structure | ST-segment elevation | CARDIAC & CARDIOVASCULAR SYSTEMS | UNIDIRECTIONAL CONDUCTION BLOCK | AJMALINE | CARDIAC TISSUE | POTENTIALS | MODEL | VENTRICULAR TISSUE | CELL-CULTURES | BRUGADA-SYNDROME | FISH-OIL | IMPULSE PROPAGATION | Brugada Syndrome - genetics | Cardiomyopathy, Dilated - genetics | Genetic Predisposition to Disease | Ventricular Dysfunction, Right - genetics | Brugada Syndrome - physiopathology | Humans | Heart Transplantation | Chromatography, High Pressure Liquid | Muscle Proteins - genetics | Cardiomyopathy, Dilated - physiopathology | Computer Simulation | Adolescent | Lamin Type A - genetics | Female | Ventricular Dysfunction, Right - physiopathology | Sodium Channels - genetics | Ajmaline | Mutation | In Vitro Techniques | Electrophysiologic Techniques, Cardiac | NAV1.5 Voltage-Gated Sodium Channel | Anti-Arrhythmia Agents | Heart failure | Cardiology | Universities and colleges
Cardiovascular | Electrocardiography | Excitation | Arrhythmia | Structure | ST-segment elevation | CARDIAC & CARDIOVASCULAR SYSTEMS | UNIDIRECTIONAL CONDUCTION BLOCK | AJMALINE | CARDIAC TISSUE | POTENTIALS | MODEL | VENTRICULAR TISSUE | CELL-CULTURES | BRUGADA-SYNDROME | FISH-OIL | IMPULSE PROPAGATION | Brugada Syndrome - genetics | Cardiomyopathy, Dilated - genetics | Genetic Predisposition to Disease | Ventricular Dysfunction, Right - genetics | Brugada Syndrome - physiopathology | Humans | Heart Transplantation | Chromatography, High Pressure Liquid | Muscle Proteins - genetics | Cardiomyopathy, Dilated - physiopathology | Computer Simulation | Adolescent | Lamin Type A - genetics | Female | Ventricular Dysfunction, Right - physiopathology | Sodium Channels - genetics | Ajmaline | Mutation | In Vitro Techniques | Electrophysiologic Techniques, Cardiac | NAV1.5 Voltage-Gated Sodium Channel | Anti-Arrhythmia Agents | Heart failure | Cardiology | Universities and colleges
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2016, Volume 67, Issue 19, pp. 2313 - 2315
Dilation of the ascending aorta was detected in 20 of 26 (77%) HCN4 mutation-positive patients in whom we could obtain images with diagnostic quality...
Cardiovascular | Internal Medicine | NONCOMPACTION | CARDIAC & CARDIOVASCULAR SYSTEMS | BRADYCARDIA | CHANNEL | Cardiac arrhythmia | Genotype & phenotype | Cardiomyopathy | Genes | Coronary vessels | Aorta | Mutation | Age | Ion channels (cyclic nucleotide-gated)
Cardiovascular | Internal Medicine | NONCOMPACTION | CARDIAC & CARDIOVASCULAR SYSTEMS | BRADYCARDIA | CHANNEL | Cardiac arrhythmia | Genotype & phenotype | Cardiomyopathy | Genes | Coronary vessels | Aorta | Mutation | Age | Ion channels (cyclic nucleotide-gated)
Journal Article
Cardiac Electrophysiology Clinics, ISSN 1877-9182, 2011, Volume 3, Issue 1, pp. 93 - 112
Mutations in the cardiac voltage-gated sodium channel encoded by the SCN5A gene have been linked to multiple cardiac arrhythmia syndromes, including the long...
Cardiovascular | Long QT syndrome | Sodium channel | Arrhythmia | Brugada syndrome | Sudden death
Cardiovascular | Long QT syndrome | Sodium channel | Arrhythmia | Brugada syndrome | Sudden death
Journal Article
Heart Rhythm, ISSN 1547-5271, 2007, Volume 4, Issue 6, pp. 752 - 755
Background The B