Genomics experts dispute nine genes linked to congenital heart condition

NIH-funded ClinGen panel also validates three genes believed to be associated with Long QT syndrome.
Source: National Institutes of Health (NIH) News Releases - Category: American Health Source Type: news

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Condition:   Long QT Syndrome Intervention:   Diagnostic Test: ECG coupled to phonocardiography Sponsor:   University Hospital, Bordeaux Not yet recruiting
Source: - Category: Research Source Type: clinical trials
New Zealand has a multi-ethnic population and a national cardiac inherited disease registry (CIDRNZ). Ancestry is reflected in the spectrum and prevalence of genetic variants in Long QT Syndrome (LQTS).
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research
The cardiac ventricular action potential depends on several voltage-gated ion channels, including Nav, Cav, and Kv channels. Mutations in these channels can cause Long QT Syndrome (LQTS) which increases the risk for ventricular fibrillation and sudden cardiac death. Polyunsaturated fatty acids (PUFAs) have emerged as potential therapeutics for LQTS because they are modulators of voltage-gated ion channels. Here we demonstrate that PUFA analogues vary in their selectivity for human voltage-gated ion channels involved in the ventricular action potential. The effects of specific PUFA analogues range from selective for a speci...
Source: eLife - Category: Biomedical Science Tags: Structural Biology and Molecular Biophysics Source Type: research
AbstractTorsade de pointes (TdP) occurred in a long QT syndrome type 3 (LQT3) patient after switching perospirone to blonanserin. We studied how their electropharmacological effects had induced TdP in the LQT3 patient. Perospirone hydrochloride (n = 4) or blonanserin (n = 4) of 0.01, 0.1, and 1 mg/kg, i.v. was cumulatively administered to the halothane-anesthetized dogs over 10 min. The low dose of perospirone decreased total peripheral vascular resistance, but increased heart rate and cardiac output, facilitated atrioventricular conduction, and prolongedJ–Tpeakc. The middle dose...
Source: Heart and Vessels - Category: Cardiology Source Type: research
Conclusions DLG1 joins a growing list of genes encoding ion channel interacting proteins (ChIPs) identified as potential channelopathy-susceptibility genes because of their ability to regulate the trafficking, targeting, and modulation of ion channels that are critical for the generation and propagation of the cardiac electrical impulse. Dysfunction in these critical components of cardiac excitability can result potentially in fatal cardiac disease. PMID: 32196358 [PubMed - as supplied by publisher]
Source: American Journal of Physiology. Heart and Circulatory Physiology - Category: Physiology Authors: Tags: Am J Physiol Heart Circ Physiol Source Type: research
In this study, by utilizing a semiquantitative pull-down assay, we explored the interaction of CaM-E141G with CaM-binding peptide fragments of CaV1.2. We also investigated its electrophysiological effects on CaV1.2 channel activity with the patch clamp technique. We found that the maximum binding (Bmax) of CaM-E141G to the proximal C-terminal region, PreIQ-IQ, PreIQ, IQ and NT (a N-terminal peptide) were all decreased (by 17.71-59.26%), compared to that of wild type CaM (CaM-WT). In particular, the Ca2+-dependent increase in the binding affinity was changed to a Ca2+-dependent decrease in the presence of a combination of C...
Source: Am J Physiol Cell Ph... - Category: Cytology Authors: Tags: Am J Physiol Cell Physiol Source Type: research
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Source: Pacing and Clinical Electrophysiology : PACE - Category: Cardiology Authors: Tags: CASE REPORT Source Type: research
The voltage-gated potassium channel Kv7.1 encoded by KCNQ1 is located in both cardiac myocytes and insulin producing beta cells. Loss-of-function mutations in KCNQ1 causes long QT syndrome along with glucose-stim...
Source: BMC Endocrine Disorders - Category: Endocrinology Authors: Tags: Case report Source Type: research
CONCLUSIONS: In this study, two-thirds of patients with LQT8 exhibited LaT on ECG, and nearly one-third of those experienced cardiopulmonary arrest. Further investigations are warranted to differentiate between LQT3 and LQT8 in patients exhibiting LaT to optimize therapy. PMID: 32161207 [PubMed - as supplied by publisher]
Source: Circulation Journal - Category: Cardiology Authors: Tags: Circ J Source Type: research
Publication date: March 2020Source: Journal of Emergency Nursing, Volume 46, Issue 2Author(s): Kory S. London, Jessica Zegre-Hemsey, Melanie Root, Alex Kleinmann, Jennifer L. White
Source: Journal of Emergency Nursing - Category: Nursing Source Type: research
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