Results 81 to 90 of about 206,398 (317)

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat   +2 more
wiley   +1 more source

Cardiac Sympathetic Nerve Sprouting and Susceptibility to Ventricular Arrhythmias after Myocardial Infarction

open access: yesCardiology Research and Practice, 2015
Ventricular arrhythmogenesis is thought to be a common cause of sudden cardiac death following myocardial infarction (MI). Nerve remodeling as a result of MI is known to be an important genesis of life-threatening arrhythmias.
Chang-Yi Li, Yi-Gang Li
doaj   +1 more source

Comprehensive translational assessment of human-induced pluripotent stem cell derived cardiomyocytes for evaluating drug-induced arrhythmias [PDF]

open access: yes, 2016
Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) hold promise for assessment of drug-induced arrhythmias and are being considered for use under the comprehensive in vitro proarrhythmia assay (CiPA).
Blinova, Ksenia   +17 more
core   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Genetics of Inherited Arrhythmias in Children

open access: yesIndian Pacing and Electrophysiology Journal, 2008
Over the past two decades, breakthroughs in basic science have revealed the genetic etiology for several inherited arrhythmias. Onset of arrhythmias often commences in childhood and adolescence.
Maully J. Shah
doaj  

Automatic Mode Switching in Atrial Fibrillation [PDF]

open access: yes, 2005
Automatic mode switching (AMS) algorithms were designed to prevent tracking of atrial tachyarrhythmias (ATA) or other rapidly occurring signals sensed by atrial channels, thereby reducing the adverse hemodynamic and symptomatic consequences of a rapid ...
Antonio De, Simone   +2 more
core  

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady   +10 more
wiley   +1 more source

Regional differences in APD restitution can initiate wavebreak and re-entry in cardiac tissue: A computational study [PDF]

open access: yes, 2005
Background Regional differences in action potential duration (APD) restitution in the heart favour arrhythmias, but the mechanism is not well understood.
A Garfinkel   +37 more
core   +3 more sources

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