scholarly journals p.N1380del mutation in the pore-forming region of SCN5A gene is associated with cardiac conduction disturbance and ventricular tachycardia

2017 ◽  
Vol 49 (3) ◽  
pp. 270-276 ◽  
Author(s):  
Zhen Yang ◽  
Danbo Lu ◽  
Lei Zhang ◽  
Jialu Hu ◽  
Zhenning Nie ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Cardiac Conduction ◽  
Conduction Disturbance ◽  
Scn5a Gene

Severe cardiac conduction disturbance associated with polymyositis

1997 ◽  
Vol 7 (1) ◽  
pp. 69-74
Author(s):  
Seiji Takeda ◽  
Ichiro Tatara ◽  
Kenji Kono
Keyword(s):  
Cardiac Conduction ◽  
Conduction Disturbance

scholarly journals Cardiac sodium channel, its mutations and their spectrum of arrhythmia phenotypes

2016 ◽  
Vol 26 (3) ◽  
pp. 281 ◽  
Author(s):  
Andrés Ricardo Pérez-Riera ◽  
Rodrigo Daminello Raimundo ◽  
Rodrigo Akira Watanabe ◽  
José Luiz Figueiredo ◽  
Luiz Carlos de Abreu
Keyword(s):  
Sodium Channel ◽  
Cardiac Muscle ◽  
Heart Function ◽  
Heart Diseases ◽  
Cardiac Conduction ◽  
Activation Process ◽  
Α Subunit ◽  
Cardiac Sodium Channel ◽  
Wide Range ◽  
Scn5a Gene

The mechanisms of cellular excitability and propagation of electrical signals in the cardiac muscle are very important functionally and pathologically. The heart is constituted by three types of muscle: atrial, ventricular, and specialized excitatory and conducting fi bers. From a physiological and pathophysiological point of view, the conformational states of the sodium channel during heart function constitute a signifi cant aspect for the diagnosis and treatment of heart diseases. Functional states of the sodium channel (closed, open, and inactivated) and their structure help to understand the cardiac regulation processes. There are areas in the cardiac muscle with anatomical and functional differentiation that present automatism, thus subjecting the rest of the fi bers to their own rhythm. The rate of these (pacemaker) areas could be altered by modifi cations in ions, temperature and especially, the autonomic system. Excitability is a property of the myocardium to react when stimulated. Another electrical property is conductivity, which is characterized by a conduction and activation process, where the action potential, by the all-or-nothing law, travels throughout the heart. Heart relaxation also stands out as an active process, dependent on the energetic output and on specificion and enzymatic actions, with the role of sodium channel being outstanding in the functional process. In the gene mutation aspects that encode the rapid sodium channel (SCN5A gene), this channel is responsible for several phenotypes, such as Brugada syndrome, idiopathic ventricular fibrillation, dilated cardiomyopathy, early repolarization syndrome, familial atrial fibrillation, variant 3 of long QT syndrome, multifocal ectopic ventricular contractions originating in Purkinje arborizations, progressive cardiac conduction defect (Lenègre disease), sudden infant death syndrome, sick sinus syndrome, sudden unexplained nocturnal death syndrome, among other sodium channel alterations with clinical overlapping. Finally, it seems appropriate to consider the “sodium channel syndrome” (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment.

scholarly journals Ventricular tachycardia in patients with type 1 myotonic dystrophy: a case series

2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Anish Nikhanj ◽  
Soori Sivakumaran ◽  
Bailey Miskew-Nichols ◽  
Zaeem A Siddiqi ◽  
Gavin Y Oudit
Keyword(s):  
Ventricular Tachycardia ◽  
Myotonic Dystrophy ◽  
Ventricular Arrhythmias ◽  
Case Series ◽  
Cardiac Conduction ◽  
Cardiac Resynchronization ◽  
Angiotensin Converting Enzyme Inhibition ◽  
Mineralocorticoid Receptor Antagonist ◽  
Medical Therapies

Abstract Background Type 1 myotonic dystrophy (DM1) is associated with a variety of cardiac conduction abnormalities and the frequent need for permanent pacing. However, the role of ventricular tachycardia (VT) and the implied risk of sudden cardiac death (SCD) is poorly understood. Case summary This study examined a 56-patient DM1 cohort of men and women, and identified five patients (two females and three males) with ventricular arrhythmias (8.9%). Patients were reviewed on a case-by-case basis, with their clinical presentation and management of VT and the associated cardiomyopathy indicated. Patient cardiac function was determined by 12-lead electrocardiogram, 48-h Holter monitor, and transthoracic echocardiography. These patients were therefore suitable candidates for implantable cardioverter-defibrillator implantation and received these devices; four of the five patients also received cardiac resynchronization therapy. Medical therapies included angiotensin converting enzyme inhibition, mineralocorticoid receptor antagonist, and following device implantation, beta-blocker therapy was initiated. Discussion Our case series demonstrates the prevalence of VT in patients with DM1 highlighting the associated risks of SCD in this patient population. The burden of ventricular arrhythmias, advanced conduction disease, and cardiomyopathy are best treated with a combination of device and medical therapies.

scholarly journals Cardiac Emerinopathy

2020 ◽  
Vol 13 (10) ◽  
Author(s):  
Taisuke Ishikawa ◽  
Hiroyuki Mishima ◽  
Julien Barc ◽  
Masanori P. Takahashi ◽  
Keiichi Hirono ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Left Ventricular ◽  
Cardiac Conduction ◽  
Conduction Disturbance ◽  
Ventricular Noncompaction ◽  
Increased Risk ◽  
Genes Encoding ◽  
History Of ◽  
Cardiac Conduction Defect ◽  
Female Carriers

Background: Mutations in the nuclear envelope genes encoding LMNA and EMD are responsible for Emery-Dreifuss muscular dystrophy. However, LMNA mutations often manifest dilated cardiomyopathy with conduction disturbance without obvious skeletal myopathic complications. On the contrary, the phenotypic spectrums of EMD mutations are less clear. Our aims were to determine the prevalence of nonsyndromic forms of emerinopathy, which may underlie genetically undefined isolated cardiac conduction disturbance, and the etiology of thromboembolic complications associated with EMD mutations. Methods: Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac conduction defect (n=51). Results: We identified 3 X-linked recessive EMD mutations (start-loss, splicing, missense) in families with cardiac conduction disease. All 3 probands shared a common clinical phenotype of progressive atrial arrhythmias that ultimately resulted in atrial standstill associated with left ventricular noncompaction (LVNC), but they lacked early contractures and progressive muscle wasting and weakness characteristic of Emery-Dreifuss muscular dystrophy. Because the association of LVNC with EMD has never been reported, we further genetically screened 102 LVNC patients and found a frameshift EMD mutation in a boy with progressive atrial standstill and LVNC without complications of muscular dystrophy. All 6 male EMD mutation carriers of 4 families underwent pacemaker or defibrillator implantation, whereas 2 female carriers were asymptomatic. Notably, a strong family history of stroke observed in these families was probably due to the increased risk of thromboembolism attributable to both atrial standstill and LVNC. Conclusions: Cardiac emerinopathy is a novel nonsyndromic X-linked progressive atrial standstill associated with LVNC and increased risk of thromboembolism.

scholarly journals From Muscles to Wires: Report of Two Cases and Literature Review on COVID-19 Vaccination and Cardiac Conduction Disturbance

Cureus ◽  
2021 ◽  
Author(s):  
Mohamed Elhassan ◽  
Hasan Ahmad ◽  
Mohamed Mohamed ◽  
Ola Saidahmed ◽  
Ahmed E Elhassan
Keyword(s):  
Literature Review ◽  
Cardiac Conduction ◽  
Conduction Disturbance

scholarly journals Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
A. L. M. J. van der Knijff-van Dortmont ◽  
M. Dirckx ◽  
J. J. Duvekot ◽  
J. W. Roos-Hesselink ◽  
A. Gonzalez Candel ◽  
...  
Keyword(s):  
Case Report ◽  
Adverse Events ◽  
Epidural Analgesia ◽  
Brugada Syndrome ◽  
Low Dose ◽  
Gene Mutations ◽  
Pregnant Patient ◽  
Cardiac Conduction ◽  
Conduction Disturbances ◽  
Scn5a Gene

SCN5A gene mutations can lead to ion channel defects which can cause cardiac conduction disturbances. In the presence of specific ECG characteristics, this mutation is called Brugada syndrome. Many drugs are associated with adverse events, making anesthesia in patients with SCN5A gene mutations or Brugada syndrome challenging. In this case report, we describe a pregnant patient with this mutation who received epidural analgesia using low dose ropivacaine and sufentanil during labour.

Transitory ventricular tachycardia associated with influenza A infection of cardiac conduction tissue

Infection ◽  
2016 ◽  
Vol 44 (3) ◽  
pp. 353-356 ◽  
Author(s):  
Andrea Frustaci ◽  
Nicola Petrosillo ◽  
Giuseppe Ippolito ◽  
Cristina Chimenti
Keyword(s):  
Ventricular Tachycardia ◽  
Influenza A ◽  
Cardiac Conduction

scholarly journals A novel SCN5A gene mutation causing LQT3 with unique phenotype in a large canadian kindred

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
C.J MacIntyre ◽  
C.J Gray ◽  
V Newman ◽  
A Crowley ◽  
S Dyack ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Ventricular Arrhythmia ◽  
Family Members ◽  
Gene Mutations ◽  
Right Atrial ◽  
P Waves ◽  
System Disease ◽  
Positive Individual ◽  
Significant Difference ◽  
Scn5a Gene

Abstract Background SCN5A gene mutations are associated with diverse clinical phenotypes including Long QT (LQT) Syndrome, Brugada Syndrome, progressive conduction system disease and cardiomyopathy. Objective We identified a novel SCN5A variant (T731I) in a pedigree affected by QT prolongation and ventricular arrhythmia. Clinical phenotype and co-segregation with genotype within the pedigree were characterized. Methods Family members were invited to attend clinics held in their indigenous community. All subjects underwent a history, physical exam, 12 lead ECG and had blood samples collected for genetic testing. Patients were assessed by an adult or pediatric cardiologist and genetic counselors over a six year period. There were 86 females and 69 males ranging in age from 1 to 82 years (mean 36 years) at the time of first assessment. ECG analysis was performed by a cardiac electrophysiologist blinded to patient identity and genotype. The QTc was calculated using Bazett's formula. Results One hundred and fifty five family members were evaluated (86 (55%) female; mean age 36 years (range 1 to 82 years). Mean QTc was 461 + 21 ms for the gene positive group and 419 + 22 ms for the gene negative group (P<0.001) (Figure). There was no significant difference in age or sex between the gene positive and gene negative groups. Gene positive family members were also noted to have low right atrial p waves and frequent unifocal ventricular ectopy and non-sustained monomorphic ventricular tachycardia. One gene positive individual developed dilated cardiomyopathy with high burden ventricular tachycardia and required cardiac transplantation. Conclusion This novel SCN5A variant co-segregated with an abnormal phenotype consisting of significant QTc prolongation, low atrial rhythm, and ventricular arrhythmia. This pedigree highlights the phenotypic heterogeneity of SCN5A gene mutations and the importance of cascade family screening to identify at risk family members. Figure 1. QTc intervals Funding Acknowledgement Type of funding source: None

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