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Quoted phrase not found in phrase index: "Short QT syndrome type 2"
Page 1
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy.
Pérez Riera AR, Paixão-Almeida A, Barbosa-Barros R, Yanowitz FG, Baranchuk A, Dubner S, Palandri Chagas AC. Pérez Riera AR, et al. Cardiol J. 2013;20(5):464-71. doi: 10.5603/CJ.a2013.0052. Epub 2013 May 15. Cardiol J. 2013. PMID: 23677719 Free article. Review.
Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without structural heart disease that has a dominant autosomal or sporadic pattern of transmission affecting the electric system of the heart. ...These 3 potassium c …
Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without structural heart …
Cardiac conduction disorders in children.
Steffensen TS, Barness EG. Steffensen TS, et al. Front Biosci (Elite Ed). 2009 Jun 1;1(2):519-27. doi: 10.2741/E48. Front Biosci (Elite Ed). 2009. PMID: 19482666 Free article. Review.
Histiocytoid cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Isolated noncompaction of the left ventricle, Long QT syndrome (LQTS) and Brugada syndrome, are all well described. Congenital short QT syndrome is a new familial primary electrical dise …
Histiocytoid cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Isolated noncompaction of the left ventricle, Long QT syndrome (LQT …
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
Hu D, Li Y, Zhang J, Pfeiffer R, Gollob MH, Healey J, Harrell DT, Makita N, Abe H, Sun Y, Guo J, Zhang L, Yan G, Mah D, Walsh EP, Leopold HB, Giustetto C, Gaita F, Zienciuk-Krajka A, Mazzanti A, Priori SG, Antzelevitch C, Barajas-Martinez H. Hu D, et al. JACC Clin Electrophysiol. 2017 Jul;3(7):727-743. doi: 10.1016/j.jacep.2016.11.013. Epub 2017 Feb 1. JACC Clin Electrophysiol. 2017. PMID: 29759541 Free article.
OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias a …
OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short …
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.
Blancard M, Debbiche A, Kato K, Cardin C, Sabrina G, Gandjbakhch E, Probst V, Haissaguerre M, Extramiana F, Hocini M, Olivier G, Leenhardt A, Guicheney P, Rougier JS. Blancard M, et al. Sci Rep. 2018 Oct 2;8(1):14619. doi: 10.1038/s41598-018-32867-4. Sci Rep. 2018. PMID: 30279520 Free PMC article.
Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel Ca(v)1.2 have been implicated in arrhythmic syndromes. We screened patients with Brugada syndrome, short QT syndrome, early repolarisation syndrome, an …
Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel Ca(v)1.2 have been implicated in …
L-type calcium channel mutations in Japanese patients with inherited arrhythmias.
Fukuyama M, Ohno S, Wang Q, Kimura H, Makiyama T, Itoh H, Ito M, Horie M. Fukuyama M, et al. Circ J. 2013;77(7):1799-806. doi: 10.1253/circj.cj-12-1457. Epub 2013 Apr 11. Circ J. 2013. PMID: 23575362 Free article. Clinical Trial.
This study aimed to elucidate disease-causing mutations in LTCC-related genes in Japanese patients diagnosed as BrS or idiopathic ventricular fibrillation (IVF), early repolarization syndrome, short QT syndrome, and compare them with those carrying SCN5A muta …
This study aimed to elucidate disease-causing mutations in LTCC-related genes in Japanese patients diagnosed as BrS or idiopathic ventricula …
Action potential clamp and pharmacology of the variant 1 Short QT Syndrome T618I hERG K+ channel.
El Harchi A, Melgari D, Zhang YH, Zhang H, Hancox JC. El Harchi A, et al. PLoS One. 2012;7(12):e52451. doi: 10.1371/journal.pone.0052451. Epub 2012 Dec 26. PLoS One. 2012. PMID: 23300672 Free PMC article.
BACKGROUND: The familial Short QT Syndrome (SQTS) is associated with an increased risk of cardiac arrhythmia and sudden death. ...Under conventional voltage clamp, half-maximal inhibitory concentrations (IC(50)) for inhibition of I(hERG) tails by quinidine, d …
BACKGROUND: The familial Short QT Syndrome (SQTS) is associated with an increased risk of cardiac arrhythmia and sudden …
Prevalence of Electrocardiographic Patterns Associated With Sudden Cardiac Death in the Spanish Population Aged 40 Years or Older. Results of the OFRECE Study.
Awamleh García P, Alonso Martín JJ, Graupner Abad C, Jiménez Hernández RM, Curcio Ruigómez A, Talavera Calle P, Cristóbal Varela C, Serrano Antolín J, Muñiz J, Gómez Doblas JJ, Roig E; investigators of the OFRECE study. Awamleh García P, et al. Rev Esp Cardiol (Engl Ed). 2017 Oct;70(10):801-807. doi: 10.1016/j.rec.2016.11.039. Epub 2017 Mar 28. Rev Esp Cardiol (Engl Ed). 2017. PMID: 28363711 Free article. English, Spanish.
We calculated the weighted prevalence and clinical factors associated with the presence of Brugada-type patterns or QT segment abnormalities. RESULTS: Overall, 8343 individuals were evaluated (59.2 years, 52.4% female). There were 12 Brugada cases (type 1, …
We calculated the weighted prevalence and clinical factors associated with the presence of Brugada-type patterns or QT segment abnorm …
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.
Harrell DT, Ashihara T, Ishikawa T, Tominaga I, Mazzanti A, Takahashi K, Oginosawa Y, Abe H, Maemura K, Sumitomo N, Uno K, Takano M, Priori SG, Makita N. Harrell DT, et al. Int J Cardiol. 2015;190:393-402. doi: 10.1016/j.ijcard.2015.04.090. Epub 2015 Apr 15. Int J Cardiol. 2015. PMID: 25974115
BACKGROUND: Short QT syndrome (SQTS) is a rare inheritable arrhythmia, associated with atrial and ventricular fibrillations, caused by mutations in six cardiac ion channel genes with high penetrance. ...A novel mutation KCNH2-I560T, when expressed in COS-7 ce …
BACKGROUND: Short QT syndrome (SQTS) is a rare inheritable arrhythmia, associated with atrial and ventricular fibrillat …
Differential effects of the β-adrenoceptor blockers carvedilol and metoprolol on SQT1- and SQT2-mutant channels.
Bodi I, Franke G, Pantulu ND, Wu K, Perez-Feliz S, Bode C, Zehender M, zur Hausen A, Brunner M, Odening KE. Bodi I, et al. J Cardiovasc Electrophysiol. 2013 Oct;24(10):1163-71. doi: 10.1111/jce.12178. Epub 2013 May 29. J Cardiovasc Electrophysiol. 2013. PMID: 23718892

IC50 values were 16.3 muM (WT) and 46.1 muM (V307L), indicating a 2.8-fold decrease in carvedilol's IKs -blocking potency in V307L-KCNQ1. Carvedilol's (1 muM) inhibition of the IKr tail was attenuated in N588K-KCNH2 (4.5 3% vs 50.3 4%, WT, P < 0.001) with IC50 values of

…
IC50 values were 16.3 muM (WT) and 46.1 muM (V307L), indicating a 2.8-fold decrease in carvedilol's IKs -blocking potency in V307L-KC …
PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function K(IR)2.1 channels, but increases channel protein expression.
Ji Y, Veldhuis MG, Zandvoort J, Romunde FL, Houtman MJC, Duran K, van Haaften G, Zangerl-Plessl EM, Takanari H, Stary-Weinzinger A, van der Heyden MAG. Ji Y, et al. J Biomed Sci. 2017 Jul 15;24(1):44. doi: 10.1186/s12929-017-0352-x. J Biomed Sci. 2017. PMID: 28711067 Free PMC article.
KCNJ2 gain-of-function mutations V93I and D172N associate with increased I(K1), short QT syndrome type 3 and congenital atrial fibrillation. Pentamidine-Analogue 6 (PA-6) is an efficient (IC(50) = 14 nM with inside-out patch clamp methodology) and spec …
KCNJ2 gain-of-function mutations V93I and D172N associate with increased I(K1), short QT syndrome type 3 and con …
11 results