Literature DB >> 19669871

Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age.

Eric S Silver1, Leonardo Liberman, Wendy K Chung, Henry M Spotnitz, Jonathan M Chen, Michael J Ackerman, Christopher Moir, Allan J Hordof, Robert H Pass.   

Abstract

We describe the case of a newborn with congenital long QT syndrome, with 2:1 AV block and frequent episodes of Torsades de Pointes (TdP) requiring placement of a dual chamber ICD at 33 days and 3.63 kg, the youngest and smallest patient, thus far reported. Long QT syndrome was diagnosed due to bradycardia in the newborn nursery, with frequent episodes of TdP. The patient was initially treated with magnesium and esmolol then given lidocaine which resulted in dramatic transient normalization of the QTc with 1:1 AV nodal conduction. An attempt to transition to oral sodium channel and beta blockade was unsuccessful. An ICD was placed and dual chamber pacing was initiated which facilitated the transition to an oral medical regimen and ultimate discharge from the hospital. Soon after placement of the ICD, genetic testing revealed a novel F1473C mutation in the SCN5A gene. Episodes of TdP continued and left stellate gangliectomy was performed at 3 months of age. At 30 months follow-up, the patient has occasional, self-limited episodes of TdP and has received rare, successful, and appropriate ICD shocks.

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Year:  2009        PMID: 19669871      PMCID: PMC3332535          DOI: 10.1007/s10840-009-9428-1

Source DB:  PubMed          Journal:  J Interv Card Electrophysiol        ISSN: 1383-875X            Impact factor:   1.900


  16 in total

1.  ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/NASPE Committee to Update the 1998 Pacemaker Guidelines).

Authors:  Gabriel Gregoratos; Jonathan Abrams; Andrew E Epstein; Roger A Freedman; David L Hayes; Mark A Hlatky; Richard E Kerber; Gerald V Naccarelli; Mark H Schoenfeld; Michael J Silka; Stephen L Winters; Raymond J Gibbons; Elliott M Antman; Joseph S Alpert; Gabriel Gregoratos; Loren F Hiratzka; David P Faxon; Alice K Jacobs; Valentin Fuster; Sidney C Smith
Journal:  Circulation       Date:  2002-10-15       Impact factor: 29.690

2.  Transcutaneous implantation of an internal cardioverter defibrillator in a small infant with recurrent myocardial ischemia and cardiac arrest simulating sudden infant death syndrome.

Authors:  Anne E Greene; John T Berger; Yasser Heshmat; Karen S Kuehl
Journal:  Pacing Clin Electrophysiol       Date:  2004-01       Impact factor: 1.976

3.  A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN.

Authors:  O C WARD
Journal:  J Ir Med Assoc       Date:  1964-04

4.  Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death.

Authors:  A JERVELL; F LANGE-NIELSEN
Journal:  Am Heart J       Date:  1957-07       Impact factor: 4.749

Review 5.  Infants with long-QT syndrome and 2:1 atrioventricular block.

Authors:  D L Trippel; M K Parsons; P C Gillette
Journal:  Am Heart J       Date:  1995-11       Impact factor: 4.749

6.  Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Authors:  I Splawski; J Shen; K W Timothy; M H Lehmann; S Priori; J L Robinson; A J Moss; P J Schwartz; J A Towbin; G M Vincent; M T Keating
Journal:  Circulation       Date:  2000-09-05       Impact factor: 29.690

7.  Efficacy of permanent pacing in the management of high-risk patients with long QT syndrome.

Authors:  A J Moss; J E Liu; S Gottlieb; E H Locati; P J Schwartz; J L Robinson
Journal:  Circulation       Date:  1991-10       Impact factor: 29.690

8.  Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

Authors:  W Zareba; A J Moss; P J Schwartz; G M Vincent; J L Robinson; S G Priori; J Benhorin; E H Locati; J A Towbin; M T Keating; M H Lehmann; W J Hall
Journal:  N Engl J Med       Date:  1998-10-01       Impact factor: 91.245

9.  A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.

Authors:  John R Bankston; Minerva Yue; Wendy Chung; Meghan Spyres; Robert H Pass; Eric Silver; Kevin J Sampson; Robert S Kass
Journal:  PLoS One       Date:  2007-12-05       Impact factor: 3.240

10.  Differential response to Na+ channel blockade, beta-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long-QT syndrome.

Authors:  S G Priori; C Napolitano; F Cantù; A M Brown; P J Schwartz
Journal:  Circ Res       Date:  1996-06       Impact factor: 17.367

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  7 in total

1.  Successful treatment of a newborn with genetically confirmed long QT syndrome 3 and repetitive Torsades De Pointes tachycardia.

Authors:  Christian Paech; Philipp Suchowerskyj; Roman Anton Gebauer
Journal:  Pediatr Cardiol       Date:  2011-06-29       Impact factor: 1.655

2.  Successful implantation of an intracardiac defibrillator in an infant with long QT syndrome and isolated noncompaction of the ventricular myocardium.

Authors:  Ozge Surmeli Onay; Isil Yildirim; Burcin Beken; Sevcan Erdem; Tevfik Karagoz; Mustafa Yilmaz; Sule Yigit
Journal:  Pediatr Cardiol       Date:  2012-03-23       Impact factor: 1.655

3.  Left thoracoscopic sympathectomy used as primary therapy for a young child with intractable long QT syndrome.

Authors:  Dingchao He; John P Costello; Evan P Nadler; Jeffrey P Moak; Richard A Jonas; Dilip S Nath
Journal:  Pediatr Cardiol       Date:  2012-09-26       Impact factor: 1.655

Review 4.  Molecular Pathophysiology of Congenital Long QT Syndrome.

Authors:  M S Bohnen; G Peng; S H Robey; C Terrenoire; V Iyer; K J Sampson; R S Kass
Journal:  Physiol Rev       Date:  2017-01       Impact factor: 37.312

5.  Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.

Authors:  James R Priest; Scott R Ceresnak; Frederick E Dewey; Lindsey E Malloy-Walton; Kyla Dunn; Megan E Grove; Marco V Perez; Katsuhide Maeda; Anne M Dubin; Euan A Ashley
Journal:  Heart Rhythm       Date:  2014-06-25       Impact factor: 6.343

6.  Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics.

Authors:  Cecile Terrenoire; Kai Wang; Kelvin W Chan Tung; Wendy K Chung; Robert H Pass; Jonathan T Lu; Jyh-Chang Jean; Amel Omari; Kevin J Sampson; Darrell N Kotton; Gordon Keller; Robert S Kass
Journal:  J Gen Physiol       Date:  2013-01       Impact factor: 4.086

7.  Modeling tissue- and mutation- specific electrophysiological effects in the long QT syndrome: role of the Purkinje fiber.

Authors:  Vivek Iyer; Kevin J Sampson; Robert S Kass
Journal:  PLoS One       Date:  2014-06-03       Impact factor: 3.240

  7 in total

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