Monogenec Arrhythmic Syndromes: From Molecular and Genetic Aspects to Bedside

Acta Naturae ◽  
2016 ◽  
Vol 8 (2) ◽  
pp. 62-74 ◽  
Author(s):  
E. Z. Golukhova ◽  
O. I. Gromova ◽  
R. A. Shomahov ◽  
N. I. Bulaeva ◽  
L. A. Bockeria
Keyword(s):  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Ventricular Fibrillation ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Heart Rhythm ◽  
The United States ◽  
Polymorphic Ventricular Tachycardia ◽  
Long Qt ◽  
Qt Syndrome

The abrupt cessation of effective cardiac function that is generally due to heart rhythm disorders can cause sudden and unexpected death at any age and is referred to as a syndrome called sudden cardiac death (SCD). Annually, about 400,000 cases of SCD occur in the United States alone. Less than 5% of the resuscitation techniques are effective. The prevalence of SCD in a population rises with age according to the prevalence of coronary artery disease, which is the most common cause of sudden cardiac arrest. However, there is a peak in SCD incidence for the age below 5 years, which is equal to 17 cases per 100,000 of the population. This peak is due to congenital monogenic arrhythmic canalopathies. Despite their relative rarity, these cases are obviously the most tragic. The immediate causes, or mechanisms, of SCD are comprehensive. Generally, it is arrhythmic death due to ventricular tachyarrythmias - sustained ventricular tachycardia (VT) or ventricular fibrillation (VF). Bradyarrhythmias and pulseless electrical activity account for no more than 40% of all registered cardiac arrests, and they are more often the outcome of the abovementioned arrhythmias. Our current understanding of the mechanisms responsible for SCD has emerged from decades of basic science investigation into the normal electrophysiology of the heart, the molecular physiology of cardiac ion channels, the fundamental cellular and tissue events associated with cardiac arrhythmias, and the molecular genetics of monogenic disorders of the heart rhythm (for example, the long QT syndrome). This review presents an overview of the molecular and genetic basis of SCD in the long QT syndrome, Brugada syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia and idiopathic ventricular fibrillation, and arrhythmogenic right ventricular dysplasia, and sudden cardiac death prevention strategies by modern techniques (including implantable cardioverter-defibrillator).

scholarly journals GENETIC REASONS OF SUDDEN CARDIAC DEATH

2017 ◽  
Vol 19 (2) ◽  
pp. 15-22
Author(s):  
S N Kolyubaeva
Keyword(s):  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Polymorphic Ventricular Tachycardia ◽  
Normal Heart ◽  
Short Qt Syndrome ◽  
Long Qt ◽  
Qt Syndrome

The review presents the recent data on genetic reasons of sudden cardiac death. Mutations discuss in gens associated with sudden cardiac death. Channalopathies, such as Brugada syndrome, long QT syndrome, short QT syndrome and catecholaminergic polymorphic ventricular tachycardia are characterized by arrhythmias in normal heart resulting from genetic anomalies in ion channels

Anesthesia for Patients with Congenital Long QT Syndrome

2005 ◽  
Vol 102 (1) ◽  
pp. 204-210 ◽  
Author(s):  
Susan J. Kies ◽  
Christina M. Pabelick ◽  
Heather A. Hurley ◽  
Roger D. White ◽  
Michael J. Ackerman
Keyword(s):  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Anesthetic Management ◽  
Torsade De Pointes ◽  
Polymorphic Ventricular Tachycardia ◽  
Treatment Modalities ◽  
Beta Blockade ◽  
Long Qt ◽  
Qt Syndrome

Long QT syndrome is a malfunction of cardiac ion channels resulting in impaired ventricular repolarization that can lead to a characteristic polymorphic ventricular tachycardia known as torsades de pointes. Stressors, by increasing sympathetic tone, and drugs can provoke torsade de pointes, leading to syncope, seizures, or sudden cardiac death in these patients. Beta blockade, implantation of cardioverter defibrillators, and left cardiac sympathetic denervation are used in the treatment of these patients. However, these treatment modalities do not guarantee the prevention of sudden cardiac death. Certain drugs, including anesthetic agents, are known to contribute to QT prolongation. After reviewing the literature the authors give recommendations for the anesthetic management of these patients in the perioperative period.

Risk stratification for sudden cardiac death in primary electrical disorders

ESC CardioMed ◽  
2018 ◽  
pp. 2322-2327
Author(s):  
Peter J. Schwartz ◽  
Lia Crotti
Keyword(s):  
Ventricular Tachycardia ◽  
High Risk ◽  
Sudden Cardiac Death ◽  
Risk Stratification ◽  
Cardiac Death ◽  
Low Risk ◽  
Polymorphic Ventricular Tachycardia ◽  
Long Qt ◽  
Risk Patients ◽  
Qt Syndrome

Risk stratification is extremely important for primary electrical diseases because the low-risk patients are likely to remain asymptomatic through life whereas the high-risk patients often die suddenly, unless properly treated. This chapter addresses what is currently known about risk stratification for the long QT syndrome, the short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome.

scholarly journals A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Hyun Sok Yoo ◽  
Nancy Medina ◽  
María Alejandra von Wulffen ◽  
Natalia Ciampi ◽  
Analia Paolucci ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Frameshift Mutation ◽  
Alpha Subunit ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

Abstract Background The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac death due to life-threatening ventricular tachyarrhythmias. Results A family composed of 17 members with a family history of sudden death and recurrent syncopes was studied. The DNA of proband with clinical manifestations of long QT syndrome was analyzed using a massive DNA sequencer that included the following genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2, KCNJ2, CACNA1, CAV3, SCN1B, SCN4B, AKAP9, SNTA1, CALM1, KCNJ5, RYR2 and TRDN. DNA sequencing of proband identified a novel pathogenic variant of KCNH2 gene produced by a heterozygous frameshift mutation c.46delG, pAsp16Thrfs*44 resulting in the synthesis of a truncated alpha subunit of the Kv11.1 ion channel. Eight family members manifested the phenotype of long QT syndrome. The study of family segregation using Sanger sequencing revealed the identical variant in several members of the family with a positive phenotype. Conclusions The clinical and genetic findings of this family demonstrate that the novel frameshift mutation causing haploinsufficiency can result in a congenital long QT syndrome with a severe phenotypic manifestation and an elevated risk of sudden cardiac death.

scholarly journals Paediatric/young versus adult patients with long QT syndrome or catecholaminergic polymorphic ventricular tachycardia

2021 ◽  
Author(s):  
Sharen Lee ◽  
Jiandong Zhou ◽  
Kamalan Jeevaratnam ◽  
Wing Tak Wong ◽  
Ian Chi Kei Wong ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Long Qt Syndrome ◽  
Primary Outcome ◽  
Public Hospitals ◽  
Adult Patients ◽  
Polymorphic Ventricular Tachycardia ◽  
Qtc Interval ◽  
Long Qt ◽  
Old Patients ◽  
Qt Syndrome

AbstractIntroductionLong QT syndrome (LQTS) and catecholaminergic ventricular tachycardia (CPVT) are less prevalent cardiac ion channelopathies than Brugada syndrome in Asia. The present study compared paediatric/young and adult patients with these conditions.MethodsThis was a territory-wide retrospective cohort study of consecutive patients diagnosed with LQTS and CPVT attending public hospitals in Hong Kong. The primary outcome was spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF).ResultsA total of 142 LQTS (mean onset age= 27±23 years old) and 16 CPVT (mean presentation age=11±4 years old) patients were included. For LQTS, arrhythmias other than VT/VF (HR=4.67, 95% confidence interval=[1.53-14.3], p=0.007), initial VT/VF (HR=3.25 [1.29-8.16], p=0.012) and Schwartz score (HR=1.90 [1.11-3.26], p=0.020) were predictive of the primary outcome for the overall cohort, whilst arrhythmias other than VT/VF (HR=5.41 [1.36-21.4], p=0.016) and Schwartz score (HR=4.67 [1.48-14.7], p=0.009) were predictive for the adult subgroup (>25 years old; n=58). All CPVT patients presented before the age of 25 but no significant predictors of VT/VF were identified. A random survival forest model identified initial VT/VF, Schwartz score, initial QTc interval, family history of LQTS, initially asymptomatic, and arrhythmias other than VT/VF as the most important variables for risk prediction in LQTS, and initial VT/VF/sudden cardiac death, palpitations, QTc, initially symptomatic and heart rate in CPVT.ConclusionClinical and ECG presentation vary between the pediatric/young and adult LQTS population. All CPVT patients presented before the age of 25. Machine learning models achieved more accurate VT/VF prediction.

scholarly journals Epinephrine-Induced Polymorphic Ventricular Tachycardia in a Patient With Congenital Long QT Syndrome

2009 ◽  
Vol 39 (9) ◽  
pp. 386 ◽  
Author(s):  
Jae Hee Kim ◽  
Sun Hee Park ◽  
Kyun Hee Kim ◽  
Won Suk Choi ◽  
Jung Kyu Kang ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Long Qt Syndrome ◽  
Polymorphic Ventricular Tachycardia ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome
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