Scn5a encodes the cardiac. Medical search. Frequent questions

This condition alters the normal beating of the heart and can lead to fainting (syncope) or sudden cardiac arrest and death. (medlineplus.gov)
However, such an examination is necessary to exclude other potential cardiac causes of syncope or cardiac arrest in an otherwise healthy patient (eg, heart murmurs from hypertrophic cardiomyopathy or from a valvular or septal defect). (medscape.com)
Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on electrocardiograms (ECGs) and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death. (medscape.com)
LQTS is usually diagnosed after a person has a cardiac event (eg, syncope, cardiac arrest). (medscape.com)
BS presents with syncope and/or cardiac arrest due to ventricular fibrillation in normal structural heart. (alliedacademies.org)
Syncope and cardiac arrest are the most common clinical manifestations leading to the diagnosis of Brugada syndrome. (medscape.com)
It is an inherited cardiac condition that is characterized by genetically encoded abnormalities in cardiac ion channels, namely through sudden cardiac death, various palpitations, and syncope (temporary loss of consciousness induced by low blood pressure). (studybay.net)
BrS is associated with an increased risk of syncope, palpitations, chest pain, convulsions, difficulty in breathing (nocturnal agonal breathing) and/or Sudden Cardiac Death (SCD) secondary to PVT/VF, unexplained cardiac arrest or documented PVT/VF or Paroxysmal atrial fibrillation (AF) in the absence of apparent macroscopic or structural heart disease, electrolyte disturbance, use of certain medications or coronary heart disease and fever. (bvsalud.org)
Arrhythmogenic cardiomyopathy is a rare genetic entity characterized by progressive fibro-fatty replacement of myocardium leading to malignant arrhythmias, syncope, and sudden cardiac death. (intechopen.com)
This syndrome is characterized by the presence of a short QT interval leading to malignant ventricular tachyarrhythmias, syncope and sudden cardiac death. (intechopen.com)
2012). LQTS can manifest with syncope and cardiac arrest that is commonly triggered by adrenergic stress, often precipitated by emotion or exercise. (preventiongenetics.com)
it is characterized by syncope and a high incidence of ventricular arrhythmia (including torsades de pointes) and sudden cardiac death. (biomedcentral.com)

Sodium channel blocking medications, commonly used to treat cardiac arrhythmia, may also worsen the tendency to abnormal heart rhythms in patients with Brugada syndrome and should be avoided. (wikipedia.org)
More than 400 mutations in the SCN5A gene have been identified in people with Brugada syndrome, which is a heart condition characterized by an irregular heart rhythm (arrhythmia). (medlineplus.gov)
At least 238 mutations in the SCN5A gene are known to cause Romano-Ward syndrome, which is the most common form of an arrhythmia called long QT syndrome. (medlineplus.gov)
Family History of Sudden Cardiac Death in the Young and Inherited Arrhythmia Syndromes: Awareness and Attitudes of General Practitioners and Private Practice Cardiologists. (cdc.gov)
Brugada syndrome (BrS) is an autosomal dominantly inherited cardiac disease characterized by "coved type" ST-segment elevation in the right precordial leads, high susceptibility to ventricular arrhythmia and a family history of sudden cardiac death. (unife.it)
Understanding the individual and combinatorial functional effects of these variants on cardiac sodium current in human cardiomyocytes can be an initial step in the stratification of ventricular arrhythmia risk to influence clinical decision making. (grantome.com)
Arrhythmia-induced sudden cardiac death (SCD) claims more than 250,000 lives each year in the United States. (grantome.com)
Long QT (LQT) syndrome is a cardiac arrhythmia diagnosis that is reflective of a description found on the EKG (electrocardiography) as well as patient history and family history. (studybay.net)
Alterations in the SCN5A gene encoding the cardiac sodium channel Na v 1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative ca. (biomedcentral.com)
See "Cardiac excitability, mechanisms of arrhythmia, and action of antiarrhythmic drugs", section on 'Action potential in slow response tissues' . (medilib.ir)
The possibility of cardiac arrhythmia was suspected after the patient presented to the emergency room and the electrocardiograph (ECG) monitor showed paroxysmal ventricular tachycardia during attacks. (biomedcentral.com)
The patient has never been suspected LQTS because her normal routine 12 channel electrocardiograph (ECG) at early disease stage, until we caught clinical attacks during her initial visit to our emergency room (ER) and documented simultaneous cardiac arrhythmia. (biomedcentral.com)
Atrial fibrillation (AF) is the most common form of cardiac arrhythmia in clinical practice and causes significant morbidity and mortality [ 1 ]. (e-arrhythmia.org)
2016) Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy . (rna-seqblog.com)

The SCN5A gene encodes specific voltage-dependent Na+ channels abundant in cardiac muscle that open and close at specific stages of cardiac activity in response to voltage change, thereby controlling the magnitude and timecourse of voltage-dependent Na+ currents (iNa) in cardiac muscle cells. (ox.ac.uk)
This gene encodes multidrug res. (biomedcentral.com)

1.5, the predominant cardiac sodium channel alpha subunit. (unibas.ch)
This gene belongs to the family of genes SCN (Sodium cannel, voltage-gated, type V, alpha subunit) that encode proteins intended to form sodium channels. (ivami.com)
The product of the KCNQ1 gene produces an alpha subunit that interacts with other proteins, such as the mink beta subunit, to generate the I ks ion channel responsible for the delayed potassium rectifier current of the cardiac action potential 5 . (studybay.net)
The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). (thermofisher.com)

However, only 20% of cases of Brugada syndrome are associated with mutations in SCN5A, as in the majority of patients with Brugada syndrome genetic testing is unable to identify the genetic mutation responsible. (wikipedia.org)
The aim was the optimisation of a genetic screening method for causative mutation in domain III and IV of SCN5a using High Resolution Melting (HRM). (alliedacademies.org)
1.5/R219H mutation in a patient with complex cardiac arrhythmias and DCM. (unibas.ch)
We thus propose a novel link between SCN5A mutation and the complex pathogenesis of cardiac arrhythmias and DCM. (unibas.ch)
The infant had 2 SCN5A mutations: a maternally inherited N-terminal frame shift/deletion (R34fs/60) and a paternally inherited missense mutation, R1195H. (unibe.ch)
Vorobiof G, Kroening D, Hall B, Brugada R, Huang D. Brugada syndrome with marked conduction disease: dual implications of a SCN5A mutation. (medscape.com)
These circumstances may also precipitate symptoms, when there is an underlying mutation SCN5A gene or another gene. (ivami.com)

In the past 20 years, genetic variants in SCN5A encoding the cardiac voltage-gated sodium channel Nav1.5 have been linked to a range of inherited cardiac arrhythmias: variants resulting in loss-of-function of Nav1.5 have been linked to sick sinus syndrome, atrial stand still, atrial fibrillation (AF) impaired pulse generation, progressive and non-progressive conduction defects, the Brugada Syndrome (BrS), and sudden cardiac death. (bvsalud.org)
SCN5A variants causing increased sodium current during the plateau phase of the cardiac action potential is associated with Long QT Syndrome type 3 (LQTS3), Torsade de Pointes ventricular tachycardia and SCD. (bvsalud.org)
The link between SCN5A variants, MEPPC and DCM is currently not well understood, but amino acid substitutions resulting in gain-of-function of Nav1.5 or introduction of gating pore currents potentially play an important role. (bvsalud.org)
This highlights the importance of genetic screening of DCM patients to identify patients with SCN5A variants associated with MEPPC. (bvsalud.org)
Here we review the MEPPC phenotype, MEPPC-SCN5A associated variants, and pathogenesis as well as treatment options. (bvsalud.org)
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study. (cdc.gov)
However, variants of unknown significance were detected by Sanger sequencing in TBX5 and SCN10A, known regulators of SCN5A expression. (grantome.com)
The influence of variants in the regulation network of SCN5A expression on human cardiomyocyte electrophysiology is undefined. (grantome.com)
I hypothesize that these variants, individually or together, reduce SCN5A expression, consistent with the familial BrS phenotype described. (grantome.com)
Notably, cis -regulatory regions in cardiac myocytes are significantly enriched for cardiovascular disease-associated variants. (nature.com)
Alternative splicing results in several transcript variants encoding different isoforms. (utsouthwestern.edu)

The gene in which mutations are most commonly found in Brugada syndrome, known as SCN5A, is responsible for the cardiac sodium channel. (wikipedia.org)
However, the molecular mechanisms responsible for the cardiac defects, the second most common cause of death in DM, were not known. (rna-seqblog.com)

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A. (unibe.ch)
A severe clinical phenotype characterized by fever-induced monomorphic ventricular tachycardia and QT interval prolongation emerged in a toddler with compound heterozygosity involving SCN5A: R34fs/60, and R1195H. (unibe.ch)
Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. (medscape.com)

These mutations alter the structure of ion channels made with the SCN5A protein and disrupt the flow of sodium ions into cardiac muscle cells. (medlineplus.gov)
These channels convey sodium positively charged ions into cardiac muscle cells and have a primary role in the ability of cells to generate and transmit electrical signals, regulating heart 's normal rhythm. (ivami.com)
Sodium channel of cardiac muscle open and close to control the flow of ions into cardiac muscle cells. (ivami.com)

SCN5a encodes an α-subunit of the cardiac voltage-gated sodium channel (Nav1.5) at 3p21 with 28 exons encoding 2016 amino acids. (alliedacademies.org)
The SCN5A gene, encoding for the cardiac voltage-gated sodium channel Nav1.5, accounts for ~20-30% of BrS cases and is considered clinically relevant. (unife.it)
In addition, the mutations in SCN5A that encodes voltage-gated sodium channels in human cardiomyocytes, can directly lead to abnormalities of sodium channels in cardiomyocytes and induce various arrhythmias. (cd-genomics.com)
The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. (utsouthwestern.edu)

LQT1 is is a subtype of congenital cardiac syndrome and is typically inherited in an autosomal dominant manner, as most patients have an affected parent and it is the most common type of LQT syndrome 3 . (studybay.net)

Brugada syndrome (BrS) is an inherited ion channel channelopathy predisposing to ventricular arrhythmias and sudden cardiac death. (ijnmronline.com)

Chen first described the genetic abnormality of SCN5A channels [49] While many of those with Brugada syndrome do not have any symptoms, Brugada syndrome may cause fainting or sudden cardiac death due to serious abnormal heart rhythms such as ventricular fibrillation or polymorphic ventricular tachycardia. (wikipedia.org)
The first mutations described in association with Brugada syndrome were in a gene responsible for a protein or ion channel that controls the flow of sodium ions through the cell membrane of heart muscle cells - the cardiac sodium channel. (wikipedia.org)
Mutations in SCN5A associated with Brugada syndrome generally cause the flow of sodium ions to decrease. (wikipedia.org)
Some SCN5A gene mutations associated with Brugada syndrome change single protein building blocks (amino acids) in the SCN5A protein. (medlineplus.gov)
To date, the only treatment that has proven effective in treating ventricular tachycardia and fibrillation and preventing sudden death in patients with Brugada syndrome is implantation of an automatic implantable cardiac defibrillator (ICD). (medscape.com)
Mutations in the gene SCN5a is the most common genetic cause of Brugada Syndrome (BS), a rare inherited cardiac channelopathy, characterized by ST-segment elevation in the right pericardial leadsV1-V3 and right bundle-branch block. (alliedacademies.org)
Functional characterization of mutations involving the SCN5A-encoded cardiac sodium channel has established the pathogenic mechanisms for type 3 long QT syndrome and type 1 Brugada syndrome and has provided key insights into the physiological importance of essential structure-function domains. (unibe.ch)
Brugada J, Brugada R, Brugada P. Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest. (medscape.com)
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. (ijnmronline.com)
We have identified a family with multiple members affected by Brugada syndrome (BrS), a condition with a distinctive ECG pattern reflecting decreased sodium current and increased risk of sudden cardiac death. (grantome.com)
Decreased cardiac sodium current density predisposes to ventricular arrhythmias, potentially leading to SCD, and is associated with the arrhythmic Brugada syndrome. (grantome.com)
We will study the effects of genetic variation in Brugada syndrome on cardiac sodium channel expression in hopes to identify new mechanisms in Brugada syndrome and ultimately prevent SCD. (grantome.com)
Na(v)1.5 dysfunctions due to mutations cause cardiac diseases such as the LQT3 form of long QT syndrome, conduction disorders, and Brugada syndrome (BrS). (ulaval.ca)
They have identified more than 300 mutations in the SCN5A gene in people with Brugada syndrome and people affected by SUNDS. (ivami.com)
Some of the genes involved in additional Brugada syndrome encode proteins that ensure the correct location or function of sodium channels in heart muscle cells. (ivami.com)

Isolated PCCD results predominantly from mutations in SCN5A , the gene that encodes the Nav1.5 channel responsible for the inward sodium (INa) current. (msdmanuals.com)

These autosomal dominant mutations disrupt Na channel function, inhibiting channel inactivation, thereby causing a sustained ionic current that delays cardiac repolarization. (johnshopkins.edu)
Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. (utsouthwestern.edu)

Long QT Interval Syndromes The long QT interval syndromes (LQTS) result from any congenital or acquired disorder of cardiac ion channel function or regulation (channelopathy) that prolongs ventricular myocyte action potential. (msdmanuals.com)
Long QT syndrome (LQTS) is a heritable channelopathy characterized by a prolonged cardiac repolarization that may trigger ventricular arrhythmias (torsade de pointes), recurrent syncopes, seizure, or sudden cardiac death (SCD) (Cerrone et al. (preventiongenetics.com)

Isolated progressive cardiac conduction disease (PCCD) refers to a group of genetic disorders that involve progressively worsening defects in cardiac conduction, including sinus node dysfunction, varying degrees of atrioventricular (AV) block and/or His-Purkinje system conduction delays or blocks. (msdmanuals.com)
General reference Isolated progressive cardiac conduction disease (PCCD) refers to a group of genetic disorders that involve progressively worsening defects in cardiac conduction, including sinus node dysfunction. (msdmanuals.com)
Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes. (medscape.com)

This study sought to present the clinical and biophysical phenotypes discerned from compound heterozygosity mutations in SCN5A on different alleles in a toddler diagnosed with QT prolongation and fever-induced ventricular arrhythmias. (unibe.ch)
Mutations in SCN5A, encoding the cardiac sodium (Na) channel, are linked to a form of the congenital long-QT syndrome (LQT3) that provokes lethal ventricular arrhythmias. (johnshopkins.edu)
The majority of sudden cardiac death events in athletes are due to ventricular arrhythmias as a result of underlying molecular and/or structural level pathologic substrate. (scienceopen.com)

Lastly, we used the ventricular/atrial models to visualize gating defects on cardiac excitability.Results: Voltage-dependences of both activation and inactivation were right-shifted, the overlap between activation and inactivation predicted increased window currents, the recovery from fast inactivation was slowed, there was no significant difference in late currents, and there was no difference in use-dependent inactivation. (sfu.ca)
Abnormalities in cardiac conduction can occur due to a variety of factors, including developmental and congenital defects, acquired injury or ischemia of portions of the conduction system, or less commonly due to inherited diseases that alter cardiac conduction system function. (medscape.com)

Originally believed to be predominantly associated with mutations in SCN5A encoding for the cardiac sodium channel, mutations of 18 genes other than SCN5A have been implicated in the pathogenesis of BrS to date. (ijnmronline.com)
Understanding of the molecular and ionic mechanisms underlying cardiac conduction is essential for the appreciation of the pathogenesis of conduction abnormalities in structurally normal and altered hearts. (medscape.com)

In this review, we describe the cardiac differentiation from ES cells, iPS cells, and the current progress of using iPS cell-derived cardiomyocytes for heart disease modeling and for the development of therapeutic strategies. (biomedcentral.com)
These factors can cause damage to stromal cells in the fibrous framework of the ventricular wall, and followed by gradual degeneration, necrosis, extracellular edema of cardiomyocytes, finally whole-heart enlargement, cardiac function decline and heart failure. (cd-genomics.com)
In cardiomyocytes, cardiac actin (encoded by ACTC1 ) is a major component of the thin filaments in the sarcomere. (cd-genomics.com)
Herein, we introduce a cardiac-mimetic cell-culture system that resembles the microenvironment in the heart and provides interactions with cardiomyocytes and electrical cues to the cultured fibroblasts for direct cardiac reprogramming. (thno.org)
The cardiac-mimetic culture system may serve as an effective tool for producing a feasible number of reprogrammed cardiomyocytes from fibroblasts. (thno.org)
As a demonstration of the versatility of the Swarm, we also developed an assay measuring cardiac action potential and calcium waveform properties simultaneously under paced conditions using human induced pluripotent stem (iPS) cell-derived cardiomyocytes as an additional counter screen for cardiac toxicity. (frontiersin.org)

Those at higher risk of sudden cardiac death may be treated using an implantable cardioverter defibrillator (ICD). (wikipedia.org)
Our case illustrates how long LQTS can masquerade convincingly as epilepsy and can be treated wrongly with AEDs, putting the patient at high risk of sudden cardiac death. (biomedcentral.com)

The cardiac conduction system can be anatomically, developmentally, and molecularly distinguished from the working myocardium. (medscape.com)
This 'Molecular Perspectives' will highlight several diverse mechanisms of isolated conduction system disease as well as conduction system degeneration associated with other cardiac and non-cardiac disorders. (medscape.com)
The heart achieves the coordinated contraction of the atrial and ventricular chambers due to the precise timing of the cardiac conduction system (CCS), a specialized complex and heterogeneous network of cells that initiate and allow propagation of action potentials through the heart. (medscape.com)
Their study, published in Nature Communications , is titled " Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhytmia in myotonic dystrophy . (rna-seqblog.com)

Other mutations prevent the SCN5A gene from producing any functional ion channels, which also reduces the inward flow of sodium ions. (medlineplus.gov)

The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. (thermofisher.com)

The SCN5A gene mutations that cause Romano-Ward syndrome include changes in single amino acids and deletions or insertions of a small number of amino acids in the SCN5A protein. (medlineplus.gov)
The SCN5A gene mutations that cause sick sinus syndrome lead to the production of nonfunctional sodium channels or abnormal channels that cannot transport ions properly. (medlineplus.gov)
Mutations in the transmembrane, linker, and pore region of KCNQ1 are typically defined as high-probability disease-causing mutations that cause severe cardiac events in younger ages compared to mutations in the COOH terminal region. (studybay.net)

The sodium channels containing proteins produced from the SCN5A gene are abundant in heart (cardiac) muscle cells and play key roles in these cells' ability to generate and transmit electrical signals. (medlineplus.gov)
Channels made with these altered SCN5A proteins stay open longer than usual, which allows sodium ions to continue flowing into cardiac muscle cells abnormally. (medlineplus.gov)
Haploinsufficiency of Tbx5 in murine models results in diminished cardiac expression of gap junction proteins, atrial natriuretic peptide, and the cardiac sodium channel. (grantome.com)
The proteins encoded by other genes involved in the shape or condition help regulate ion channels that transport calcium or potassium inside or outside of the heart muscle cells. (ivami.com)
Arrhythmogenic cardiomyopathy has a genetic origin and is basically caused by deleterious alterations in genes encoding desmosomal proteins, especially plakophilin-2. (intechopen.com)
There are a myriad of mutations identified in genes encoding cardiac transcription factors, ion channels, gap junctions, energy metabolism regulators, lamins and other structural proteins. (medscape.com)
The molecular mechanisms that lead to the alteration of SCN5A were also clarified, and linked to the RNA-binding proteins that are altered upon the expression of mutated RNAs. (rna-seqblog.com)

Epigenetic mechanisms and transcription factor networks essential for differentiation of cardiac myocytes have been uncovered. (nature.com)
This study uncovers distinct layers of epigenetic regulation not only during prenatal development and postnatal maturation but also in diseased human cardiac myocytes. (nature.com)

Patients without structural disease should have genetic testing, particularly if they have a family history of sudden cardiac death or of need for pacemaker implantation at a young age. (msdmanuals.com)
A family history of sudden cardiac death is common, though not universal, as the syndrome can occur sporadically. (medscape.com)
Despite being clinically different, both patients have a family history of sudden cardiac death and had history of arrhythmic events. (unife.it)

LQT is influenced by three major genes: KCNQ1, KCNH2, and SCN5A. (studybay.net)
KCNQ1 and KCNH2 potassium channels (encoded I KS and I KR , and SCN5A sodium channel (encoded I NA ). (studybay.net)

The syndrome is caused by changes in the structure and function of certain cardiac ion channels and reduced expression of Connexin 43 (Cx43) in the Right Ventricle (RV), predominantly in the Right Ventricular Outflow Tract (VSVD), causing electromechanical abnormalities. (bvsalud.org)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmogenic heart disorder characterized by life-threatening electrical instability induced by physical or emotional stress without any structural cardiac abnormalities (Napolitano et al. (preventiongenetics.com)

Surprisingly, co-expression of SCN5A-R34fs/60 with SCN5A-R1195H elicited a significant increase in late sodium current, whereas co-expression of SCN5A-WT with SCN5A-R34fs/60 did not. (unibe.ch)

Diagnosis includes ECG, cardiac. (msdmanuals.com)

Researchers from the CNRS have discovered the molecular mechanisms responsible for the heart dysfunctions that mark myotonic dystrophy, and reported they appear to be linked to a defective processing of the cardiac sodium channel (SCN5A) RNA. (rna-seqblog.com)

Here, we describe the clinical findings of two Italian families affected by BrS and provide the functional characterization of two novel SCN5A mutations, the missense variant Pro1310Leu and the in-frame insertion Gly1687_Ile1688insGlyArg. (unife.it)

Mutations in the human cardiac sodium channel ( SCN5A ) cause one type of long-QT syndrome (LQT3), and these individuals may also have sinus pauses and sinus bradycardia in addition to the characteristic prolongation of the QT interval. (medilib.ir)

SCN5A and sinoatrial node pacemaker function. (ox.ac.uk)
Taken together, these new observations suggest strong correlations between SCN5A-encoded Na+ channel and SA node pacemaker function. (ox.ac.uk)
The normal cardiac impulse of the vertebrate heart originates in the pacemaker cells of the sinoatrial node, located in the right atrium. (medscape.com)

These disorders are caused by mutations in the genes encoding cardiac ion channels, hence they are known as cardiac channelopathies. (sfu.ca)

The common human variant SCN10A (rs6801957) is located in an SCN5A enhancer with which TBX5 is thought to interact and likely contributes to misregulation of SCN5A expression. (grantome.com)

The impaired cardiac cells die, leading to a buildup of scar tissue (fibrosis) over time that worsens the heart block. (medlineplus.gov)

Unexplained nocturnal sudden death (SUNDS: Sudden Unexplained Nocturnal Death Syndrome) is characterized by an unexpected cardiac arrest in young adults, usually at night while sleeping. (ivami.com)

A history of cardiac events is the most typical clinical presentation in patients with LQTS. (medscape.com)
This study will define hotspot mutations in domain III and IV of SCN5a in Tunisian Brugada patients and families, to improve the genetics counseling and therapeutic management. (alliedacademies.org)
SCN5A mutations have been identified in patients with arrhythmic disorders associated with DCM. (unibas.ch)
Patients should have cardiac imaging (eg, echocardiography, MRI) to detect any structural disorders. (msdmanuals.com)
Moss reported that LQT1 patients with transmembrane mutations and dominant-negative ion current effects had longer corrected QT interval and a higher frequency of cardiac events than individuals with mutations in other regions. (studybay.net)
The direct cardiac reprogramming of fibroblasts could be a promising therapeutic option for these patients. (thno.org)
An immunologically identical cardiac tissue can be produced by direct reprogramming from the patients' tissue without the potential risk of tumorigenesis that occurs with induced pluripotent stem cells [ 2 ] and the ethical issue using embryonic stem cells. (thno.org)
b ) Exons structure and coverage of RNA-seq reads across SCN5A exons 5-7 show increased inclusion of exon 6A and decreased inclusion of exon 6B in heart samples of three DM1 patients (bottom, blue) versus three control samples (top, red). (rna-seqblog.com)
Importantly, mice with an alternatively spliced form of SCN5A had cardiac dysfunctions similar to those observed in DM patients, suggesting that alternative splicing of SCN5A may contribute to DM cardiac dysfunctions. (rna-seqblog.com)

This review is based on available literature to date and focuses on known cardiac channelopathies and other inherited disorders associated with sudden cardiac death in African American/Black subjects and the role of epigenetics in phenotypic manifestations of CVD, and illustrates existing disparities in treatment and outcomes. (cdc.gov)
In this article, we will review the physiologic cardiac adaptations to exercise along with arrhythmias seen in athletes with a focus on those commonly associated with sudden cardiac death. (scienceopen.com)

2014). The electrical instability may degenerate into cardiac arrest and sudden death. (preventiongenetics.com)
In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. (nih.gov)

Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. (medscape.com)
Although in vivo direct cardiac reprogramming has shown positive effects on the in situ repair of the heart in diseased animal models [ 14 ], several obstacles remain for clinical translation. (thno.org)

Since that time there has been intense scientific interest in the study of cardiac adaptation to repetitive bouts of vigorous activity, athletic performance, and the pathophysiology of structural, functional, and electrical cardiac diseases in competitive athletes. (scienceopen.com)
Epileptic seizures can be difficult to distinguish from other etiologies that cause cerebral hypoxia, especially cardiac diseases. (biomedcentral.com)
Direct cardiac reprogramming of fibroblasts is an attractive therapeutic strategy for treating cardiovascular diseases because the adult heart has a low regeneration capacity [ 1 ]. (thno.org)

The human cardiac sodium channel Na(v)1.5 encoded by the SCN5A gene plays a critical role in cardiac excitability and the propagation of action potentials. (ulaval.ca)

The human neonatal dermal fibroblasts containing cardiac transcription factors were plated on the membrane and cultured with the murine cardiomyocyte in the presence of the electric stimulus. (thno.org)

The SCN5A gene mutations change single amino acids in the SCN5A protein. (medlineplus.gov)
CALM1 encodes a 149 amino acid protein, spans around 10 kb and is located at Chr 14p32.11 (Berchtold et al. (preventiongenetics.com)

This study has been led by science at the molecular level as well as by advances in imaging that allow us to "look inside the heart" using electrocardiography, echocardiography, cardiac computed tomography, and cardiac magnetic resonance imaging techniques. (scienceopen.com)

Cardiovascular disease (CVD) continues to be the most common cause of death worldwide, and cardiac arrhythmias account for approximately one half of these deaths. (cdc.gov)

Endurance-based sports activities (e.g., rowing, swimming, cycling, and long-distance running) result in sustained elevations in cardiac output and normal or decreased peripheral vascular resistance, and importantly, impose significant volume challenges to all cardiac chambers and vessels leading away from the heart. (scienceopen.com)

Dilated cardiomyopathy (DCM) is a structural heart disease that causes dilatation of cardiac chambers and impairs cardiac contractility. (unibas.ch)

Anatomy28

Organisms11

Diseases50

Chemicals and Drugs59

Analytical, Diagnostic and Therapeutic Techniques and Equipment60

Phenomena and Processes44

Disciplines and Occupations5

Information Science4

Health Care15

Syncope12

Arrhythmia14

Gene encodes2

Alpha subunit4

Mutation7

Variants11

Responsible for the cardiac2

Phenotype3

Ions into cardiac muscle cells3

Voltage-gated4

Inherited in an autosomal dominant manner1

Arrhythmias and sudden cardi1

Brugada Syndrome15

Nav1.51

Autosomal dominant2

Channelopathy2

Progressive cardiac conduction3

Ventricular arrhythmias3

Defects2

Pathogenesis2

Cardiomyocytes6

Risk of sudden cardi2

Conduction4

Flow of sodium ions1

Protein encoded by this gene1

Mutations that cause3

Proteins7

Myocytes2

Family History of Sudden Cardi3

KCNQ12

Abnormalities2

Sodium current1

Diagnosis1

Mechanisms1

Characterization1

Long-QT syndr1

Pacemaker3

Genes encodin1

Misregulation1

Impaired cardiac cells1

Unexpected cardiac arrest1

Patients9

Associated with sudden cardi2

Arrest and sudden death2

Clinical2

Diseases3

Action potentials1

Murine1

Amino2

Echocardiography1

Cardiovascular1

Importantly1

Structural heart1