Cardiac Channelopathies: Recognition, Treatment, Management

2018 ◽  
Vol 29 (1) ◽  
pp. 43-57
Author(s):  
Kathleen T. Hickey ◽  
Amir Elzomor
Keyword(s):  
Cardiac Arrhythmias ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
Interdisciplinary Teams ◽  
Polymorphic Ventricular Tachycardia ◽  
Molecular Testing ◽  
Short Qt Syndrome ◽  
Long Qt ◽  
New Era ◽  
Qt Syndrome ◽  
Opening And Closing

The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. Genetic variations can affect the opening and closing of the potassium, sodium, and calcium channels, resulting in arrhythmias and sudden death. Cardiac arrhythmias caused by disorders of ion channels are known as cardiac channelopathies. Nurses are important members of many interdisciplinary teams and must have a general understanding of the pathophysiology of the most commonly encountered cardiac channelopathies, electrocardiogram characteristics, approaches to treatment, and care for patients and their families. This article provides an overview of cardiac channelopathies that nurses might encounter in an array of clinical and research settings, focusing on the clinically relevant features of long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Indications for genetic testing in athletes and its application in daily practice

2019 ◽  
pp. 166-176
Author(s):  
Andrea Mazzanti ◽  
Katherine Underwood ◽  
Silvia G. Priori
Keyword(s):  
Cardiovascular Disease ◽  
Genetic Testing ◽  
Genetic Information ◽  
Cardiac Death ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Daily Practice ◽  
Polymorphic Ventricular Tachycardia ◽  
Molecular Testing ◽  
Long Qt ◽  
Qt Syndrome

Genetic information is fundamental for the management of patients with primary arrhythmia syndromes (e.g. long QT syndrome or catecholaminergic polymorphic ventricular tachycardia) and cardiomyopathies (e.g. arrhythmogenic right ventricular cardiomyopathy or hypertrophic cardiomyopathy) which increase the risk of sudden cardiac death. Importantly, molecular testing can play a pivotal role in establishing a clinical diagnosis of an inherited cardiovascular disease, particularly when the phenotype in unclear and overlaps with the normal adaptations induced in the heart by chronic exercise. However, the decision to undergo genetic testing needs to be justified on a clinical basis and handled by professionals who are capable of framing the results in the correct perspective. In this chapter we will answer the following questions. When should genetic testing be performed in athletes? Which genetic tests should be requested for athletes? What impact should a positive genetic result have on sports eligibility?

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

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

scholarly journals Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation

2020 ◽  
Vol 21 (24) ◽  
pp. 9440
Author(s):  
Xiaoan Wu ◽  
H. Peter Larsson
Keyword(s):  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Delayed Rectifier ◽  
Long Qt ◽  
Voltage Gated ◽  
Important Regulator ◽  
Functional Knowledge ◽  
Qt Syndrome ◽  
Channel Properties ◽  
Iks Channel

The delayed rectifier potassium IKs channel is an important regulator of the duration of the ventricular action potential. Hundreds of mutations in the genes (KCNQ1 and KCNE1) encoding the IKs channel cause long QT syndrome (LQTS). LQTS is a heart disorder that can lead to severe cardiac arrhythmias and sudden cardiac death. A better understanding of the IKs channel (here called the KCNQ1/KCNE1 channel) properties and activities is of great importance to find the causes of LQTS and thus potentially treat LQTS. The KCNQ1/KCNE1 channel belongs to the superfamily of voltage-gated potassium channels. The KCNQ1/KCNE1 channel consists of both the pore-forming subunit KCNQ1 and the modulatory subunit KCNE1. KCNE1 regulates the function of the KCNQ1 channel in several ways. This review aims to describe the current structural and functional knowledge about the cardiac KCNQ1/KCNE1 channel. In addition, we focus on the modulation of the KCNQ1/KCNE1 channel and its potential as a target therapeutic of LQTS.

scholarly journals Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-28 ◽  
Author(s):  
Ronald Wilders
Keyword(s):  
Ion Channel ◽  
Sudden Infant Death Syndrome ◽  
Long Qt Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Polymorphic Ventricular Tachycardia ◽  
Sudden Infant ◽  
Long Qt ◽  
Combining Data ◽  
Qt Syndrome

The sudden infant death syndrome (SIDS) causes the sudden death of an apparently healthy infant, which remains unexplained despite a thorough investigation, including the performance of a complete autopsy. The triple risk model for the pathogenesis of SIDS points to the coincidence of a vulnerable infant, a critical developmental period, and an exogenous stressor. Primary electrical diseases of the heart, which may cause lethal arrhythmias as a result of dysfunctioning cardiac ion channels (“cardiac ion channelopathies”) and are not detectable during a standard postmortem examination, may create the vulnerable infant and thus contribute to SIDS. Evidence comes from clinical correlations between the long QT syndrome and SIDS as well as genetic analyses in cohorts of SIDS victims (“molecular autopsy”), which have revealed a large number of mutations in ion channel-related genes linked to inheritable arrhythmogenic syndromes, in particular the long QT syndrome, the short QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Combining data from population-based cohort studies, it can be concluded that at least one out of five SIDS victims carries a mutation in a cardiac ion channel-related gene and that the majority of these mutations are of a known malignant phenotype.

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