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short qt syndrome

Timothy L Surman, Robert G Stuklis, Justin C Chan
BACKGROUND: Multiple case studies have suggested that video-assisted thoracoscopic sympathectomy (VATS) reduces the occurrence and frequency of symptoms in long QT syndrome (LQTS) [1,2,3]. To date there has not been a literature review to report on the short-term and long-term outcomes of this procedure. Our primary aims are to review the literature findings on the clinical outcomes of VATS sympathectomy for long QT and present a local centre case report on the outcomes of T2-T5 sympathectomy...
February 13, 2018: Heart, Lung & Circulation
Preben Bjerregaard
Establishing a definition of SQTS including symptomatology and QT interval duration is still a work in progress. It is clear, however, that SQTS is a rare, life-threatening, inherited heart disease presenting as SCD or aborted SCD in 34% and a family history of SCD in 15%. Genetic testing is important in diagnosing the disease, but so far with a causative mutation found in less than 25%. A benign variety of the disease has been observed in children with atrial fibrillation and a KCNH2-V141M mutation, and just recently a mutation in the cardiac Cl,HCO3 - exchanger AE3 was found to cause SQTS...
March 1, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Kathleen T Hickey, Amir Elzomor
The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. Genetic variations can affect the opening and closing of the potassium, sodium, and calcium channels, resulting in arrhythmias and sudden death. Cardiac arrhythmias caused by disorders of ion channels are known as cardiac channelopathies. Nurses are important members of many interdisciplinary teams and must have a general understanding of the pathophysiology of the most commonly encountered cardiac channelopathies, electrocardiogram characteristics, approaches to treatment, and care for patients and their families...
2018: AACN Advanced Critical Care
Anna Garcia-Elias, Begoña Benito
Long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are inherited primary electrical disorders that predispose to sudden cardiac death in the absence of structural heart disease. Also known as cardiac channelopathies, primary electrical disorders respond to mutations in genes encoding cardiac ion channels and/or their regulatory proteins, which result in modifications in the cardiac action potential or in the intracellular calcium handling that lead to electrical instability and life-threatening ventricular arrhythmias...
February 28, 2018: International Journal of Molecular Sciences
Horia Jalily Hasani, Aravindhan Ganesan, Marawan Ahmed, Khaled H Barakat
The voltage-gated KCNQ1 potassium ion channel interacts with the type I transmembrane protein minK (KCNE1) to generate the slow delayed rectifier (IKs) current in the heart. Mutations in these transmembrane proteins have been linked with several heart-related issues, including long QT syndromes (LQTS), congenital atrial fibrillation, and short QT syndrome. Off-target interactions of several drugs with that of KCNQ1/KCNE1 ion channel complex have been known to cause fatal cardiac irregularities. Thus, KCNQ1/KCNE1 remains an important avenue for drug-design and discovery research...
2018: PloS One
Christian Ellermann, Magdalena Sterneberg, Simon Kochhäuser, Dirk G Dechering, Michael Fehr, Lars Eckardt, Gerrit Frommeyer
Aims: Antazoline is a first-generation antihistamine with antiarrhythmic properties. This study examines potential electrophysiological effects of antazoline in short-QT-syndrome (SQTS) and long-QT-syndrome (LQTS). Methods and results: Sixty-five rabbit hearts were Langendorff-perfused. Action potential duration at 90% of repolarization (APD90), QT-interval, spatial dispersion (DISP), and effective refractory period (ERP) were measured. The IK, ATP-opener pinacidil (1 µM, n = 14) reduced APD90 (-14 ms, P < 0...
January 25, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Azam Amirian, Seyed Mohammad Dalili, Zahra Zafari, Siamak Saber, Morteza Karimipoor, Vahid Akbari, Amir Farjam Fazelifar, Sirous Zeinali
Objectives: Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing...
January 2018: Iranian Journal of Basic Medical Sciences
Ilmari Määttänen, Niklas Ravaja, Pentti Henttonen, Sampsa Puttonen, Kristian Paavonen, Heikki Swan, Taina Hintsa
Trait-like sensitivity to stress in long QT syndrome patients has been documented previously. In addition, mental stress has been associated with symptomatic status of long QT syndrome. We examined whether the symptomatic type 1 long QT syndrome patients would be more sensitive to mental stress compared to asymptomatic patients and whether there would be differences in task-related physiological stress reactions between type 1 long QT syndrome patients and healthy individuals. The study population consisted of 21 symptomatic and 23 asymptomatic molecularly defined KCNQ1 mutation carriers, their 32 non-carrier relatives and 46 non-related healthy controls, with mean ages of 37, 39, 35 and 23 years, respectively...
January 1, 2018: Journal of Health Psychology
Cunjin Luo, Kuanquan Wang, Henggui Zhang
A gain-of-function KCNJ2 D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death. Anti-malarial drug chloroquine was reported as an effective inhibitor of Kir2.1 channels. Using biophysically-detailed human ventricle computer models, this study assessed the effects of chloroquine on SQT3. The ten Tusscher et al. model of human ventricular cell action potential was modified to recapitulate functional changes in the inward rectifier K+ current (IK1) due to heterozygous and homozygous forms of the D172N mutation...
December 5, 2017: Oncotarget
Pedro Brugada
No abstract text is available yet for this article.
December 19, 2017: Journal of the American College of Cardiology
Andrea Mazzanti, Riccardo Maragna, Gaetano Vacanti, Anna Kostopoulou, Maira Marino, Nicola Monteforte, Raffaella Bloise, Katherine Underwood, Valentina Tibollo, Eleonora Pagan, Carlo Napolitano, Riccardo Bellazzi, Vincenzo Bagnardi, Silvia G Priori
BACKGROUND: Short QT syndrome (SQTS) is a rare and life-threatening arrhythmogenic syndrome characterized by abbreviated repolarization. Hydroquinidine (HQ) prolongs the QT interval in SQTS patients, although whether it reduces cardiac events is currently unknown. OBJECTIVES: This study investigated whether long-term treatment with HQ reduces the occurrence of life-threatening arrhythmic events (LAE) (cardiac arrest or sudden cardiac death) in SQTS patients. METHODS: In this cohort study on consecutive SQTS patients, 2 analyses were performed: 1) a matched-period analysis for the occurrence of LAE in 17 SQTS patients who received long-term HQ; and 2) a comparison of the annual incidence of LAE off- and on-HQ in 16 SQTS patients who survived a cardiac arrest...
December 19, 2017: Journal of the American College of Cardiology
F F Dressler, J Brado, K E Odening
In the healthy heart, physiological heterogeneities in structure and in electrical and mechanical activity are crucial for normal, efficient excitation and pumping. Alterations of heterogeneity have been linked to arrhythmogenesis in various cardiac disorders such as long QT syndrome (LQTS). This inherited arrhythmia disorder is caused by mutations in different ion channel genes and is characterized by (heterogeneously) prolonged cardiac repolarization and increased risk for ventricular tachycardia, syncope and sudden cardiac death...
March 2018: Herzschrittmachertherapie & Elektrophysiologie
Hsiang-Chun Lee, Yoram Rudy, Hongwu Liang, Chih-Chieh Chen, Ching-Hsing Luo, Sheng-Hsiung Sheu, Jianmin Cui
Gain-of-function mutations in the pore-forming subunit of IKs channels, KCNQ1, lead to short QT syndrome (SQTS) and lethal arrhythmias. However, how mutant IKs channels cause SQTS and the possibility of IKs -specific pharmacological treatment remain unclear. V141M KCNQ1 is a SQTS associated mutation. We studied its effect on IKs gating properties and changes in the action potentials (AP) of human ventricular myocytes. Xenopus oocytes were used to study the gating mechanisms of expressed V141M KCNQ1/KCNE1 channels...
October 2017: Journal of Medical and Biological Engineering
Kasper Thorsen, Vibeke S Dam, Kasper Kjaer-Sorensen, Lisbeth N Pedersen, V Arvydas Skeberdis, Jonas Jurevičius, Rimantas Treinys, Ida M B S Petersen, Morten S Nielsen, Claus Oxvig, J Preben Morth, Vladimir V Matchkov, Christian Aalkjær, Henning Bundgaard, Henrik K Jensen
Patients with short QT syndrome (SQTS) may present with syncope, ventricular fibrillation or sudden cardiac death. Six SQTS susceptibility genes, encoding cation channels, explain <25% of SQTS cases. Here we identify a missense mutation in the anion exchanger (AE3)-encoding SLC4A3 gene in two unrelated families with SQTS. The mutation causes reduced surface expression of AE3 and reduced membrane bicarbonate transport. Slc4a3 knockdown in zebrafish causes increased cardiac pHi , short QTc, and reduced systolic duration, which is rescued by wildtype but not mutated SLC4A3...
November 22, 2017: Nature Communications
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L Andoniadou, Joel A Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes...
November 3, 2017: Nature Communications
Meng-Yao An, Kai Sun, Yan Li, Ying-Ying Pan, Yong-Qiang Yin, Yi Kang, Tao Sun, Hong Wu, Wei-Zhen Gao, Jian-Shi Lou
Short QT syndrome (SQTS) is a genetic arrhythmogenic disease that can cause malignant arrhythmia and sudden cardiac death. The current therapies for SQTS have application restrictions. We previously found that Mg· (NH2CH2CH2SO3)2· H2O, a taurine-magnesium coordination compound (TMCC) exerted anti-arrhythmic effects with low toxicity. In this study we established 3 different models to assess the potential anti-arrhythmic effects of TMCC on type 2 short QT syndrome (SQT2). In Langendorff guinea pig-perfused hearts, perfusion of pinacidil (20 μmol/L) significantly shortened the QT interval and QTpeak and increased rTp-Te (P<0...
October 26, 2017: Acta Pharmacologica Sinica
Cunjin Luo, Kuanquan Wang, Henggui Zhang
AIMS: The short QT syndrome (SQTS) is a new genetic disorder associated with atrial and ventricular arrhythmias and sudden death. The SQT2, SQTS variant, results from a gain-of-function mutation (V307L) in the KCNQ1-encoded potassium channel. Although pro-arrhythmogenic effects of SQTS have been characterized, less is known about the pharmacology of SQTS. Therefore, this study aims to assess the effects of amiodarone on SQT2. METHODS AND RESULTS: The ten Tusscher et al...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
Cunjin Luo, Kuanquan Wang, Henggui Zhang
AIMS: Short QT syndrome (SQTS) is a new genetic disorder of the electrical system of the heart. To date, there are six gene mutations in ion channels underlying SQTS. However, functional effects of spatial heterogeneities, such as island-distribution of mid-cardiomyocytes (M island) on ventricular electrical excitation in SQTS condition are poorly understood or even not understood at all. Therefore, this study used computational modelling to investigate such possible effects. METHODS: The spatial heterogeneities of ventricular tissue was studied by using ten Tusscher et al...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
Boris Rudic, Erol Tülümen, Veronika Berlin, Susanne Röger, Ksenija Stach, Volker Liebe, Ibrahim El-Battrawy, Christina Dösch, Theano Papavassiliu, Ibrahim Akin, Martin Borggrefe, Jürgen Kuschyk
BACKGROUND: Up to 40% of patients with transvenous implantable cardioverter-defibrillator (ICD) experience lead-associated complications and may suffer from high complication rates when lead extraction is indicated. Subcutaneous ICD may represent a feasible alternative; however, the efficacy of the subcutaneous ICD in the detection and treatment of ventricular arrhythmias in patients with hereditary arrhythmia syndromes has not been fully evaluated. METHODS AND RESULTS: Patients with primary hereditary arrhythmia syndromes who fulfilled indication for defibrillator placement were eligible for enrollment...
October 17, 2017: Journal of the American Heart Association
D Akdis, A M Saguner, A Medeiros-Domingo, A Schaller, C Balmer, J Steffel, C Brunckhorst, F Duru
Aims: Short QT syndrome (SQTS) is a rare cardiac channelopathy characterized by a shortened corrected QT (QTc)-interval that can lead to ventricular arrhythmias and sudden cardiac death. The aim of this study was to investigate the clinical phenotypes and long-term outcomes of three families harbouring genetic mutations associated with the SQTS. Methods and results: Clinical data included medical history, physical examination, 12-lead ECG, 24-h Holter-ECG, and transthoracic echocardiography from three index patients and their first-degree relatives...
July 19, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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