Short QT syndrome: The current evidences of diagnosis and management
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Arrhythmia"
DOI: 10.1002/joa3.12439
Abstract: There are many cardiac arrhythmias and sudden cardiac death (SCD) related to channelopathies or ion channel disorders. Short QT syndrome (SQTS) is an inherited cardiac channelopathy principally caused by defective functioning of both potassium–calcium ion… read more here.
Keywords: short syndrome; current evidences; diagnosis; syndrome current ... See more keywords
Diagnosis and management of short QT syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Heart rhythm"
DOI: 10.1016/j.hrthm.2018.02.034
Abstract: Establishing a definition of short QT syndrome (SQTS), including symptomatology and QT-interval duration, is still a work in progress. However, it is clear , that SQTS is a rare, life-threatening, inherited heart disease presenting as… read more here.
Keywords: short syndrome; diagnosis; diagnosis management; sqts ... See more keywords
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100768
Abstract: SHORT syndrome is a rare, multisystem disease named with the acronym arising from short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay. Metabolic anomalies such as insulin resistance and diabetes are also… read more here.
Keywords: short syndrome; taiwanese boy; first short; syndrome ... See more keywords
A YOUNG MALE WITH SHORT QT SYNDROME ON THE ELECTROCARDIOGRAM: SHOULD WE IMPLANT AN IMPLANTABLE CARDIAC DEFIBRILLATOR?
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(18)33155-3
Abstract: Short QT syndrome (SQTS) is an uncommon genetic channelopathy that predisposes to sudden cardiac death (SCD). Management of this condition in asymptomatic individuals is controversial. A 22-year-old man presented with a 6-month history of atypical… read more here.
Keywords: short syndrome; male short; syndrome electrocardiogram; electrocardiogram implant ... See more keywords
Aborted cardiac arrest during sport activity in a teenager diagnosed with short QT syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Cardiology in the Young"
DOI: 10.1017/s1047951120001055
Abstract: Abstract Short QT syndrome is a malignant repolarisation disorder characterised by short QT intervals. We present a previously asymptomatic 14-year-old male patient with negative family history, who suffered a sudden cardiac arrest while playing basketball… read more here.
Keywords: short syndrome; aborted cardiac; cardiac arrest; diagnosed short ... See more keywords
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-01630-0
Abstract: Patients with short QT syndrome (SQTS) may present with syncope, ventricular fibrillation or sudden cardiac death. Six SQTS susceptibility genes, encoding cation channels, explain read more here.
Keywords: chloride bicarbonate; short syndrome; mutation; exchanger ae3 ... See more keywords
Emerging therapeutic targets in the short QT syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Expert Opinion on Therapeutic Targets"
DOI: 10.1080/14728222.2018.1470621
Abstract: ABSTRACT Introduction: Short QT Syndrome (SQTS) is a rare but dangerous condition characterised by abbreviated repolarisation, atrial and ventricular arrhythmias and risk of sudden death. Implantable cardioverter defibrillators (ICDs) are a first line protection against… read more here.
Keywords: short syndrome; therapeutic targets; repolarisation; channel ... See more keywords
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles.
Sign Up to like & getrecommendations! Published in 2017 at "Physiological measurement"
DOI: 10.1088/1361-6579/aa8695
Abstract: OBJECTIVE Short QT syndrome (SQTS) is an inherited cardiac channelopathy, but at present little information is available on its pharmacological treatment. SQT3 variant (linked to the inward rectifier potassium current I K1) of SQTS, results… read more here.
Keywords: effects quinidine; short syndrome; disopyramide 4031; quinidine ... See more keywords
Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Philosophical Transactions of the Royal Society B: Biological Sciences"
DOI: 10.1098/rstb.2022.0165
Abstract: The congenital short QT syndrome (SQTS) is a rare condition characterized by abbreviated rate-corrected QT (QTc) intervals on the electrocardiogram and by increased susceptibility to both atrial and ventricular arrhythmias and sudden death. Although mutations… read more here.
Keywords: potassium; gain function; potassium channel; short syndrome ... See more keywords
Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.
Sign Up to like & getrecommendations! Published in 2022 at "Allergologia et immunopathologia"
DOI: 10.15586/aei.v50i4.510
Abstract: Monoallelic loss-of-function (LOF) mutations in the phosphatidylinositol 3-kinase (PIK3R1) gene affecting the inter-Src homology 2 domain of the p85α regulatory subunit of phosphoinositide--3-kinase δ (PI3Kδ) cause the activated PI3K δ syndrome (APDS2). APDS2 is defined… read more here.
Keywords: apds2; features short; clinical immunological; penetrance ... See more keywords
Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2017.00759
Abstract: The short QT syndrome (SQTS) is a rare cardiac disorder associated with arrhythmias and sudden death. Gain-of-function mutations to potassium channels mediating the rapid delayed rectifier current, IKr, underlie SQTS variant 1 (SQT1), in which… read more here.
Keywords: short syndrome; ikr; block; sqt1 ... See more keywords