Utilization of the Genome Aggregation Database, In Silico Tools, and Heterologous Expression Patch Clamp Studies to Identify and Demote Previously Published Type 2 Long QT Syndrome-Causative Variants from Pathogenic to Likely Benign

Loss-of-function variants in the KCNH2-encoded Kv11.1 potassium channel cause type 2 long QT syndrome (LQT2). Presently, hundreds of KCNH2 missense variants (MVs) have been published as “disease-causative”. However, an estimated 10% of rare published LQTS MVs may be "false positives”.
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research

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We report a case of QTc prolongation associated with mild concussion in a pediatric patient. An 11-year-old male presented to the emergency department after sustaining a head injury during football practice. He complained of headache and blurry vision. Physical examination was within normal apart from an irregular heart rhythm. Electrocardiogram (ECG) showed normal sinus rhythm with QTc (Bazett formula) 460  ms. The patient was diagnosed with concussion and referred for cardiology follow-up of the QTc. ECG the next day showed QTc 462 ms (heart rate 105 bpm) supine and 494 ms after suddenly standing up (...
Source: Pediatric Cardiology - Category: Cardiology Source Type: research
Conclusion: Video-assisted CSD should be considered as a treatment option for patients with potentially dangerous arrhythmias that do not respond to conventional treatment, especially in recurrent ventricular tachycardia. PMID: 31588139 [PubMed - in process]
Source: Archivos de Cardiologia de Mexico - Category: Cardiology Authors: Tags: Arch Cardiol Mex Source Type: research
We report the anaesthetic management of left thoracoscopic sympathectomy in a 5-year-old child with LQTS and epicardial pacemaker in situ. It is very challenging to isolate the lung on one hand and prevent the predisposition to torsadogenic potential on the other.
Source: Indian Journal of Anaesthesia - Category: Anesthesiology Authors: Source Type: research
This article provides an updated review of the genetic basis, diagnosis and clinical management of LQTS.This article is protected by copyright. All rights reserved.
Source: Journal of Cardiovascular Electrophysiology - Category: Cardiology Authors: Tags: FELLOWS CORE CURRICULUM Source Type: research
We present a novel case of a child with drug-refractory VT storm and prolonged QT requiring extracorporeal membrane oxygenation (ECMO) support. Continuous stellate ganglion blockade was remarkably effective in stabilizing his rhythm and should be considered in similar pediatric cases.
Source: A&A Case Reports - Category: Anesthesiology Tags: Case Reports Source Type: research
Abstract Cardiovascular diseases during pregnancy are the most common causes of pregnancy-associated mortality.Vaginal delivery is the preferred mode of birth in the majority of pregnancies.It is recommended that patients with modified World Health Organization (mWHO) class IV risk are counselled against pregnancy.Patients carrying mWHO II-III, III, and class IV risks should undergo prepregnancy counselling by a multidisciplinary pregnancy heart team to determine a delivery plan and define postpartum care.Specific medications should not be principally withheld in pregnancy but the risk-ben...
Source: Wiener Klinische Wochenschrift - Category: General Medicine Authors: Tags: Wien Klin Wochenschr Source Type: research
KCNH2 encodes the human ether- à-go-go-related gene (hERG) potassium channel, which passes the rapid delayed rectifier potassium current, IKr. Loss-of-function variants in KCNH2 cause long QT syndrome type 2 (LQTS2) which is associated with a markedly increased risk of cardiac arrhythmias. The majority of rare KCNH2 variants how ever are likely to be benign.
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research
Authors: Anyfantakis D, Makrakis G Abstract Long QT syndrome is characterized by prolongation of the corrected QT interval and is associated with fatal arrhythmias. R on T phenomenon is the coincidence of a premature ventricular complex with a T wave and may result to syncope and sudden cardiac death. Here we present a case of a 59-year-old woman with no previous history of medication, receiving moxifloxacin for community-acquired pneumonia. She was admitted complaining for thoracic pain and shortness of breath. Electrocardiogram showed both R on T phenomenon and QT prolongation. After discontinuation of the antibi...
Source: Puerto Rico Health Sciences Journal - Category: International Medicine & Public Health Tags: P R Health Sci J Source Type: research
AbstractBreast cancer is the most frequent tumor in women. The recent advent of cyclin-dependent kinase (CDK) 4/6 inhibitors palbociclib and ribociclib has represented a major step forward for patients with hormone receptor-positive breast cancer. These two agents have showed similar efficacy in terms of breast cancer outcome but different cardiotoxic effects. In particular, ribociclib, but not palbociclib, has been associated with QT interval prolongation, and the mechanisms underlying this event are still unclear. In order to clarify such difference, we matched the candidate genes associated with QT interval prolongation...
Source: BioDrugs - Category: Drugs & Pharmacology Source Type: research
Most fetal deaths are unexplained. Long QT syndrome (LQTS) is a genetic disorder of cardiac ion channels. Affected individuals, including fetuses, are predisposed to sudden death. We sought to determine the risk of fetal death in familial LQTS, in which the mother or father carries LQTS genotype. In addition, we assessed whether risk differed if the LQTS genotype was inherited from the mother or father.
Source: American Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Original Research: Obstetrics Source Type: research
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