An International Multi-Center Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

An International Multi-Center Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition. Circulation. 2020 Jan 16;: Authors: Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ Abstract Background: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multi-center collaboration. Methods: Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (JLNS2, N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc> 460ms on presenting ECG) a...
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research

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Torsade de Pointes arrhythmia is a potentially lethal polymorphic ventricular tachyarrhythmia (pVT) in the setting of long QT syndrome. Arrhythmia susceptibility is influenced by risk factors modifying repolarization.
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research
General examination – eyes and facial dysmorphism Clinically examination is guided by the symptoms. Unless the history is not correlated with findings, important diagnostic possibilities may be missed. Clinical examination starts off with a focused general examination followed by a detailed examination of the cardiovascular system. Relevant points in other systems like basal crepitations, hepatosplenomegaly and neurological deficits should be looked for. Examination strategy should be fitting to the clinical situation. When a patient presents to the emergency room, it should be a short but focused examination to perm...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: HBC Source Type: blogs
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart rhythm in epilepsy implicate cardiac dysfunction as a potential pathogenic mechanism in SUDEP. Furthermore, variants in genes associated with Long QT syndrome (LQTS) have been identified in patients with SUDEP. LQTS is a cardiac arrhythmia condition that causes sudden cardiac death with strong similarities to SUDEP. Here, we discuss the possibility of an additive risk of death due to the functional consequences of a pathogenic variant in an LQTS gene interacting with ...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
A 30-something was in the ED for some minor trauma when he was noted to have a fast heart rate.  He acknowledged that he had palpitations. but only when asked.  He had a history heavy alcohol use.  Blood pressure was normal (109/83).Here is his 12-lead:There is a wide complex tachycardia with a rate of 257, with RBBB and LPFB (right axis deviation) morphology.The Differential Diagnosis is: SVT with aberrancy(#)     [AVNRT vs. WPW (also called AVRT*)]    Atrial flutter with 1:1 conduction, with aberrancy    VT coming from the anterior fascicle (fascicular...
Source: Dr. Smith's ECG Blog - Category: Cardiology Authors: Source Type: blogs
CONCLUSION: Autonomic (HRV) and cardiac repolarization (QTVI) ECG measures differ based on LQTS genotype and history of arrhythmias in LQTS1. SDNN, RMSSD, and pNN50 were each independent markers for LQTS genotype. PMID: 32942226 [PubMed - as supplied by publisher]
Source: Autonomic Neuroscience - Category: Neuroscience Authors: Tags: Auton Neurosci Source Type: research
Long QT-Syndrome (LQTS) patients are at risk of arrhythmias and seizures. We investigated whether autonomic and cardiac repolarization measures differed based on LQTS genotypes, and in LQTS patients with vs. without arrhythmias and seizures.
Source: Autonomic Neuroscience: Basic and Clinical - Category: Neuroscience Authors: Source Type: research
éowski The head-up tilt table test (HUTT) with the upright phase is used to help determine an imbalance of the sympathetic nervous system that is related to abnormal electrocardiographic repolarization in children with vasovagal syncope (VVS) and also in patients with the long QT syndrome (LQTS). The study attempted to evaluate T wave morphology and QT and TpTe (Tpeak–Tend) intervals recorded in ECG during the HUTT for a more accurate diagnosis of children with VVS. The group investigated 70 children with a negative HUTT result: 40 patients with VVS and 30 healthy volunteers without syncope. The RR interval a...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
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Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research
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Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
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Source: Journal of Interventional Cardiac Electrophysiology - Category: Cardiology Source Type: research
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