Pre-Test Probability and Genes and Variants of Uncertain Significance in Familial Long QT Syndrome

The genetics underlying familial long QT syndrome (LQTS) are among the best characterised of all of the inherited heart conditions. Cohort and registry studies have demonstrated important genotype-phenotype correlations that are now essential in guiding clinical practice of patients with the most common three genotypes; KCNQ1 (LQT type 1), KCNH2 (LQT type 2) and SCN5A (LQT type 3). However, the growing number of genes —now more than 16—is confusing, and there is much doubt as to whether many actually cause LQTS at all.
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Source Type: research

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Condition:   Long QT Syndrome Intervention:   Drug: Lumacaftor / Ivacaftor, Orkambi® Oral Tablet Sponsor:   Istituto Auxologico Italiano Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
ConclusionExercise stress testing can be useful to identify children who are Gene positive borderline LQTS from a normal population and Gene negative borderline QTc children, allowing for selective gene testing in a higher risk group of patients with borderline QTc intervals and intermediate Schwartz scores.This article is protected by copyright. All rights reserved
Source: Pacing and Clinical Electrophysiology : PACE - Category: Cardiology Authors: Tags: ELECTROPHYSIOLOGY Source Type: research
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
Abstract: Increased late sodium current (INa) induces long QT syndrome 3 with increased risk of atrial fibrillation (AF). The role of atrial late INa in the induction of AF and in the treatment of AF was determined in this study. AF parameters were measured in isolated rabbit hearts exposed to late INa enhancer and inhibitors. Late INa from isolated atrial and ventricular myocytes were measured using whole-cell patch-clamp techniques. We found that induced-AF by programmed S1S2 stimulation and spontaneous episodes of AF were recorded in hearts exposed to either low (0.1–3 nM) or high (3–10 nM) concentrations ...
Source: Journal of Cardiovascular Pharmacology - Category: Cardiology Tags: Original Article Source Type: research
Background: Numerous anti-cancer drugs can lead to long QT syndrome as a cardiotoxic side effect, which can end in sudden death. Measurement of the QTcF (corrected QT using Fridericia) needs timely support of a cardiologist. The idea of the presented solution was to replace the current way of interaction by a single-lead ECG recorded at the cancer center and send it to a tele-cardiologist for immediate diagnosis (named QTc Tracker).
Source: European Journal of Cancer - Category: Cancer & Oncology Authors: Tags: POSTERS A: Advanced Disease Source Type: research
Publication date: October 2020Source: Archives of Cardiovascular Diseases Supplements, Volume 12, Issues 2–4Author(s): Z. Al Sayed, C. Jouve, J.S. Hulot
Source: Archives of Cardiovascular Diseases Supplements - Category: Cardiology 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
Publication date: Available online 17 September 2020Source: Stem Cell ResearchAuthor(s): Ning Ge, Min Liu, Janusz Krawczyk, Veronica McInerney, Deirdre Ward, Sanbing Shen, Timothy O'Brien, Terence Prendiville
Source: Stem Cell Research - Category: Stem Cells Source Type: research
We report chemical refinement of the antiarrhythmic drug mexiletine via high-throughput screening of hiPSC-CMs derived from patients with the cardiac rhythm disorder long QT syndrome 3 (LQT3) carrying SCN5A sodium channel variants. Using iterative cycles of medicinal chemistry synthesis and testing, we identified drug analogs with increased potency and selectivity for inhibiting late sodium current across a panel of 7 LQT3 sodium channel variants and suppressing arrhythmic activity across multiple genetic and pharmacological hiPSC-CM models of LQT3 with diverse backgrounds. These mexiletine analogs can be exploited as mech...
Source: Cell Stem Cell - Category: Stem Cells Authors: Tags: Cell Stem Cell Source Type: research
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
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