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Page 1
Congenital Long QT Syndrome.
Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC. Krahn AD, et al. JACC Clin Electrophysiol. 2022 May;8(5):687-706. doi: 10.1016/j.jacep.2022.02.017. JACC Clin Electrophysiol. 2022. PMID: 35589186 Free article. Review.
Congenital long QT syndrome (LQTS) encompasses a group of heritable conditions that are associated with cardiac repolarization dysfunction. ...The management of LQTS involves conservative measures such as the avoidance of QT-prolonging drugs, pharmacol …
Congenital long QT syndrome (LQTS) encompasses a group of heritable conditions that are associated with cardiac repolar …
Inherited cardiac arrhythmias.
Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM. Schwartz PJ, et al. Nat Rev Dis Primers. 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7. Nat Rev Dis Primers. 2020. PMID: 32678103 Free PMC article. Review.
The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. ...Future research should focus on the identification of genes associated with the …
The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome, catecholaminergic polymor …
Adverse cardiac effects of cancer therapies: cardiotoxicity and arrhythmia.
Herrmann J. Herrmann J. Nat Rev Cardiol. 2020 Aug;17(8):474-502. doi: 10.1038/s41569-020-0348-1. Epub 2020 Mar 30. Nat Rev Cardiol. 2020. PMID: 32231332 Free PMC article. Review.
Accordingly, adverse effects of cancer therapies that interfere with the continuation of best-possible care, induce life-threatening risks or lead to long-term morbidity are gaining increasing importance. Cardiovascular toxic effects of cancer therapeutics and radiation th …
Accordingly, adverse effects of cancer therapies that interfere with the continuation of best-possible care, induce life-threatening risks o …
QT Prolongation, Torsades de Pointes, and Psychotropic Medications: A 5-Year Update.
Beach SR, Celano CM, Sugrue AM, Adams C, Ackerman MJ, Noseworthy PA, Huffman JC. Beach SR, et al. Psychosomatics. 2018 Mar-Apr;59(2):105-122. doi: 10.1016/j.psym.2017.10.009. Epub 2017 Nov 3. Psychosomatics. 2018. PMID: 29275963 Review.
BACKGROUND: Some psychotropic medications have been associated with prolongation of the QT interval and QT prolongation, especially in those with medical illness, and are linked to lethal ventricular arrhythmias, such as Torsades de Pointes (TdP). ...Escitalopram ap …
BACKGROUND: Some psychotropic medications have been associated with prolongation of the QT interval and QT prolongation, espec …
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ. Kapplinger JD, et al. Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23. Heart Rhythm. 2009. PMID: 19716085 Free PMC article.
BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has matured from discovery to translation and now clinical implementation. ...
BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic t …
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ. Kapa S, et al. Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19. Circulation. 2009. PMID: 19841300 Free PMC article.
BACKGROUND: Genetic testing for long-QT syndrome (LQTS) has diagnostic, prognostic, and therapeutic implications. ...
BACKGROUND: Genetic testing for long-QT syndrome (LQTS) has diagnostic, prognostic, and therapeutic implications. ...
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Acke… See abstract for full author list ➔ Walsh R, et al. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific cus …
PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically hete …
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ. Kapplinger JD, et al. Circ Cardiovasc Genet. 2015 Aug;8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. Epub 2015 Apr 22. Circ Cardiovasc Genet. 2015. PMID: 25904541 Free PMC article.
METHODS AND RESULTS: Seven in silico tools were used to assign pathogenic/benign status to nsSNVs from 2888 long-QT syndrome cases, 2111 Brugada syndrome cases, and 8975 controls. ...In addition, the in silico tools were assessed for their ability to c …
METHODS AND RESULTS: Seven in silico tools were used to assign pathogenic/benign status to nsSNVs from 2888 long-QT syndrom
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ, Will ML, Haglund CM, Ackerman MJ. Tester DJ, et al. Heart Rhythm. 2005 May;2(5):507-17. doi: 10.1016/j.hrthm.2005.01.020. Heart Rhythm. 2005. PMID: 15840476
OBJECTIVES: The purpose of this study was to determine the spectrum and prevalence of cardiac channel mutations among a large cohort of consecutive, unrelated patients referred for long QT syndrome (LQTS) genetic testing. BACKGROUND: Congenital LQTS is a prim …
OBJECTIVES: The purpose of this study was to determine the spectrum and prevalence of cardiac channel mutations among a large cohort of cons …
2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients.
Writing Committee Members; Shah MJ, Silka MJ, Silva JNA, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Bergen NHV, Wackel PL. Writing Committee Members, et al. Heart Rhythm. 2021 Nov;18(11):1888-1924. doi: 10.1016/j.hrthm.2021.07.038. Epub 2021 Jul 29. Heart Rhythm. 2021. PMID: 34363988 Free article.
367 results