메뉴 건너뛰기




Volumn 23, Issue 3, 2008, Pages 184-191

Ion channel diseases in children: Manifestations and management

Author keywords

Catecholaminergic polymorphic ventricular tachycardia; Genetic diseases; Implantable cardioverter defibrillation; Long QT syndrome; Sudden death

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; MEXILETINE; NADOLOL; POTASSIUM; POTASSIUM SPARING DIURETIC AGENT; PROPRANOLOL; QUINIDINE;

EID: 41749086869     PISSN: 02684705     EISSN: None     Source Type: Journal    
DOI: 10.1097/HCO.0b013e3282fcc2e3     Document Type: Review
Times cited : (13)

References (42)
  • 1
    • 41749103262 scopus 로고    scopus 로고
    • Schwartz PJ, Crotti L. Long QT and short QT syndromes. In: Zipes DP and Jalife J, editors. Cardiac electrophysiology. From cell to bedside. 5th ed. Elsevier, Philadelphia, Pennsylvania, USA. (in press). The most updated review on the subject.
    • Schwartz PJ, Crotti L. Long QT and short QT syndromes. In: Zipes DP and Jalife J, editors. Cardiac electrophysiology. From cell to bedside. 5th ed. Elsevier, Philadelphia, Pennsylvania, USA. (in press). The most updated review on the subject.
  • 2
    • 33644853794 scopus 로고    scopus 로고
    • The Jervell and Lange-Nielsen Syndrome. Natural history, molecular basis, and clinical outcome
    • Schwartz PJ, Spazzolini C, Crotti L, et al. The Jervell and Lange-Nielsen Syndrome. Natural history, molecular basis, and clinical outcome. Circulation 2006; 113:783-790.
    • (2006) Circulation , vol.113 , pp. 783-790
    • Schwartz, P.J.1    Spazzolini, C.2    Crotti, L.3
  • 3
    • 5344223383 scopus 로고    scopus 로고
    • v1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • v1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119:19-31.
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1    Timothy, K.W.2    Sharpe, L.M.3
  • 4
    • 41749101679 scopus 로고    scopus 로고
    • Priori SG, Napolitano C, Schwartz PJ. Genetics of cardiac arrhythmias. In: Libby P, Bonow RO, Mann DL, Zipes DP, editors. Braunwald's heart disease, 8th ed. Philadelphia, PA: Saunders Elsevier; 2008. pp. 101-109. A recent comprehensive review.
    • Priori SG, Napolitano C, Schwartz PJ. Genetics of cardiac arrhythmias. In: Libby P, Bonow RO, Mann DL, Zipes DP, editors. Braunwald's heart disease, 8th ed. Philadelphia, PA: Saunders Elsevier; 2008. pp. 101-109. A recent comprehensive review.
  • 5
    • 47649115083 scopus 로고    scopus 로고
    • Electrocardiographic and genetic screening for long QT syndrome: Results from a prospective study on 44 596 neonates
    • Abstr Suppl:II_377
    • Stramba-Badiale M, Crotti L, Goulene K, et al. Electrocardiographic and genetic screening for long QT syndrome: results from a prospective study on 44 596 neonates. Circulation 2007; 116 (Abstr Suppl):II_377.
    • (2007) Circulation , pp. 116
    • Stramba-Badiale, M.1    Crotti, L.2    Goulene, K.3
  • 6
    • 0036761176 scopus 로고    scopus 로고
    • Guidelines for the interpretation of the neonatal electrocardiogram
    • Schwartz PJ, Garson A Jr, Paul T, et al. Guidelines for the interpretation of the neonatal electrocardiogram. Eur Heart J 2002; 23:1329-1344.
    • (2002) Eur Heart J , vol.23 , pp. 1329-1344
    • Schwartz, P.J.1    Garson Jr, A.2    Paul, T.3
  • 7
    • 0038415858 scopus 로고    scopus 로고
    • Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003; 348:1866-1874.
    • Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003; 348:1866-1874.
  • 8
    • 0035830365 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
    • Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001; 103:89-95.
    • (2001) Circulation , vol.103 , pp. 89-95
    • Schwartz, P.J.1    Priori, S.G.2    Spazzolini, C.3
  • 9
    • 0028091435 scopus 로고
    • Quantitative analysis of T wave abnormalities and their prognostic implications in the idiopathic long QT syndrome
    • Malfatto G, Beria G, Sala S, et al. Quantitative analysis of T wave abnormalities and their prognostic implications in the idiopathic long QT syndrome. J Am Coll Cardiol 1994; 23:296-301.
    • (1994) J Am Coll Cardiol , vol.23 , pp. 296-301
    • Malfatto, G.1    Beria, G.2    Sala, S.3
  • 10
    • 0022412903 scopus 로고
    • Idiopathic long QT syndrome: Progress and questions
    • Schwartz PJ. Idiopathic long QT syndrome: progress and questions. Am Heart J 1985; 109:399-411.
    • (1985) Am Heart J , vol.109 , pp. 399-411
    • Schwartz, P.J.1
  • 12
    • 33644821919 scopus 로고    scopus 로고
    • The congenital long QT syndromes from genotype to phenotype: Clinical implications
    • Schwartz PJ. The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med 2006; 259:39-47.
    • (2006) J Intern Med , vol.259 , pp. 39-47
    • Schwartz, P.J.1
  • 13
    • 34247212362 scopus 로고    scopus 로고
    • Clinical aspects and prognosis of Brugada syndrome in children
    • Probst V, Denjoy I, Meregalli PG, et al. Clinical aspects and prognosis of Brugada syndrome in children. Circulation 2007; 115:2042-2048.
    • (2007) Circulation , vol.115 , pp. 2042-2048
    • Probst, V.1    Denjoy, I.2    Meregalli, P.G.3
  • 14
    • 17044446589 scopus 로고    scopus 로고
    • Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome
    • Moss AJ, Zareba W, Hall WJ, et al. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 2000; 101:616-623.
    • (2000) Circulation , vol.101 , pp. 616-623
    • Moss, A.J.1    Zareba, W.2    Hall, W.J.3
  • 15
    • 4544387969 scopus 로고    scopus 로고
    • Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers
    • Priori SG, Napolitano C, Schwartz PJ, et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 2004; 292:1341-1344.
    • (2004) JAMA , vol.292 , pp. 1341-1344
    • Priori, S.G.1    Napolitano, C.2    Schwartz, P.J.3
  • 16
    • 11144356780 scopus 로고    scopus 로고
    • Left cardiac sympathetic denervation in the management of high-risk patients affected by the long QT syndrome
    • Schwartz PJ, Priori SG, Cerrone M, et al. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long QT syndrome. Circulation 2004; 109:1826-1833.
    • (2004) Circulation , vol.109 , pp. 1826-1833
    • Schwartz, P.J.1    Priori, S.G.2    Cerrone, M.3
  • 17
    • 0037623309 scopus 로고    scopus 로고
    • Implantable cardioverter defibrillator in high-risk long QT syndrome patients
    • Zareba W, Moss AJ, Daubert JP, et al. Implantable cardioverter defibrillator in high-risk long QT syndrome patients. J Cardiovasc Electrophysiol 2003; 14:337-341.
    • (2003) J Cardiovasc Electrophysiol , vol.14 , pp. 337-341
    • Zareba, W.1    Moss, A.J.2    Daubert, J.P.3
  • 18
    • 33748043355 scopus 로고    scopus 로고
    • Is the implantable defibrillator appropriately used in the long QT syndrome? Data from the European Registry
    • Crotti L, Spazzolini C, De Ferrari GM, et al. Is the implantable defibrillator appropriately used in the long QT syndrome? Data from the European Registry. Heart Rhythm 2004; 1 (Suppl):582.
    • (2004) Heart Rhythm , vol.1 , Issue.SUPPL. , pp. 582
    • Crotti, L.1    Spazzolini, C.2    De Ferrari, G.M.3
  • 19
    • 41749119086 scopus 로고    scopus 로고
    • Electrical storm in children with an implantable cardioverter defibrillator: Clinical features and outcome
    • Wolf MJ, Zeltser IJ, Salerno J, et al. Electrical storm in children with an implantable cardioverter defibrillator: clinical features and outcome. Heart Rhythm 2007; 4 (Suppl):S43.
    • (2007) Heart Rhythm , vol.4 , Issue.SUPPL.
    • Wolf, M.J.1    Zeltser, I.J.2    Salerno, J.3
  • 20
    • 34248512934 scopus 로고    scopus 로고
    • Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene
    • Moss AJ, Shimizu W, Wilde AA, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation 2007; 115:2481-2489.
    • (2007) Circulation , vol.115 , pp. 2481-2489
    • Moss, A.J.1    Shimizu, W.2    Wilde, A.A.3
  • 21
    • 36348931620 scopus 로고    scopus 로고
    • The common Long QT Syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: Toward a mutation-specific risk stratification
    • This in-depth study of a common mutation has impact on risk stratification and questions the current extrapolations from cellular studies to clinical manifestations
    • Crotti L, Spazzolini C, Schwartz PJ, et al. The common Long QT Syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation 2007; 116:2366-2375. This in-depth study of a common mutation has impact on risk stratification and questions the current extrapolations from cellular studies to clinical manifestations.
    • (2007) Circulation , vol.116 , pp. 2366-2375
    • Crotti, L.1    Spazzolini, C.2    Schwartz, P.J.3
  • 22
    • 38649121254 scopus 로고    scopus 로고
    • Neural control of heart rate modifies arrhythmia risk in congenital long QT syndrome
    • The first evidence that the autonomic nervous system, probably on a genetic basis, plays the role of 'modifier' of the clinical severity for LQT1 patients
    • Schwartz PJ, Vanoli E, Crotti L, et al. Neural control of heart rate modifies arrhythmia risk in congenital long QT syndrome. J Am Coll Cardiol 2008; 51:920-929. The first evidence that the autonomic nervous system, probably on a genetic basis, plays the role of 'modifier' of the clinical severity for LQT1 patients.
    • (2008) J Am Coll Cardiol , vol.51 , pp. 920-929
    • Schwartz, P.J.1    Vanoli, E.2    Crotti, L.3
  • 23
    • 0028874658 scopus 로고
    • + channel blockade and to increases in heart rate. Implications for gene-specific therapy
    • + channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 1995; 92:3381-3386.
    • (1995) Circulation , vol.92 , pp. 3381-3386
    • Schwartz, P.J.1    Priori, S.G.2    Locati, E.H.3
  • 24
    • 47649133621 scopus 로고    scopus 로고
    • Highly malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional SCN5A mutation successfully treated with mexiletine and propranolol
    • Abstr Suppl:II_54-II_55
    • Wang DW, Crotti L, Ferrandi C, et al. Highly malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional SCN5A mutation successfully treated with mexiletine and propranolol. Circulation 2007; 116 (Abstr Suppl):II_54-II_55.
    • (2007) Circulation , pp. 116
    • Wang, D.W.1    Crotti, L.2    Ferrandi, C.3
  • 25
    • 34548201285 scopus 로고    scopus 로고
    • Calcium channel blockers and beta-blockers versus beta-blockers alone for preventing exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia
    • Rosso R, Kalman JM, Rogowski O, et al. Calcium channel blockers and beta-blockers versus beta-blockers alone for preventing exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2007; 4:1149-1154.
    • (2007) Heart Rhythm , vol.4 , pp. 1149-1154
    • Rosso, R.1    Kalman, J.M.2    Rogowski, O.3
  • 26
    • 34247485039 scopus 로고    scopus 로고
    • Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia
    • Napolitano C, Priori SG. Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2007; 4:675-678.
    • (2007) Heart Rhythm , vol.4 , pp. 675-678
    • Napolitano, C.1    Priori, S.G.2
  • 27
    • 33845215404 scopus 로고    scopus 로고
    • Sudden cardiac death despite an implantable cardioverter-defibrillator in a young female with catecholaminergic ventricular tachycardia
    • Mohamed U, Gollob MH, Gow RM, Krahn AD. Sudden cardiac death despite an implantable cardioverter-defibrillator in a young female with catecholaminergic ventricular tachycardia. Heart Rhythm 2006; 3:1486-1489.
    • (2006) Heart Rhythm , vol.3 , pp. 1486-1489
    • Mohamed, U.1    Gollob, M.H.2    Gow, R.M.3    Krahn, A.D.4
  • 28
    • 41749101396 scopus 로고    scopus 로고
    • Novel palliative therapy for drug-refractory catecholaminergic polymorphic ventricular tachycardia in a young patient: Cardiac autotransplantation followed by orthotopic transplantation
    • Robinson MR, Park J, Raff G. Novel palliative therapy for drug-refractory catecholaminergic polymorphic ventricular tachycardia in a young patient: cardiac autotransplantation followed by orthotopic transplantation. Heart Rhythm 2007; 4 (Suppl):S101.
    • (2007) Heart Rhythm , vol.4 , Issue.SUPPL.
    • Robinson, M.R.1    Park, J.2    Raff, G.3
  • 29
    • 41749106366 scopus 로고    scopus 로고
    • Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia
    • A novel therapeutic option for high-risk patients with CPVT, in press
    • Wilde AAM, Bhuiyan ZA, Crotti L, et al. Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med (in press). A novel therapeutic option for high-risk patients with CPVT.
    • N Engl J Med
    • Wilde, A.A.M.1    Bhuiyan, Z.A.2    Crotti, L.3
  • 30
    • 0017264676 scopus 로고
    • Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link
    • Schwartz PJ. Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link. Am J Med 1976; 60:167-172.
    • (1976) Am J Med , vol.60 , pp. 167-172
    • Schwartz, P.J.1
  • 31
    • 0034721235 scopus 로고    scopus 로고
    • A molecular link between the sudden infant death syndrome and the long QT syndrome
    • Schwartz PJ, Priori SG, Dumaine R, et al. A molecular link between the sudden infant death syndrome and the long QT syndrome. N Engl J Med 2000; 343:262-267.
    • (2000) N Engl J Med , vol.343 , pp. 262-267
    • Schwartz, P.J.1    Priori, S.G.2    Dumaine, R.3
  • 32
    • 0035922697 scopus 로고    scopus 로고
    • Molecular diagnosis in a child with sudden infant death syndrome
    • Schwartz PJ, Priori SG, Bloise R, et al. Molecular diagnosis in a child with sudden infant death syndrome. Lancet 2001; 358:1342-1343.
    • (2001) Lancet , vol.358 , pp. 1342-1343
    • Schwartz, P.J.1    Priori, S.G.2    Bloise, R.3
  • 33
    • 22544474319 scopus 로고    scopus 로고
    • Sudden infant death syndrome: How significant are the cardiac channelopathies?
    • Tester DJ, Ackerman MJ. Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res 2005; 67:388-396.
    • (2005) Cardiovasc Res , vol.67 , pp. 388-396
    • Tester, D.J.1    Ackerman, M.J.2
  • 34
    • 33846046495 scopus 로고    scopus 로고
    • Prevalence of long QT syndrome gene variants in sudden infant death syndrome
    • The conclusive evidence that LQTS disease-causing mutations contribute significantly to SIDS
    • Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long QT syndrome gene variants in sudden infant death syndrome. Circulation 2007; 115:361-367. The conclusive evidence that LQTS disease-causing mutations contribute significantly to SIDS.
    • (2007) Circulation , vol.115 , pp. 361-367
    • Arnestad, M.1    Crotti, L.2    Rognum, T.O.3
  • 35
    • 33846425740 scopus 로고    scopus 로고
    • Cardiac sodium channel dysfunction in sudden infant death syndrome
    • Wang DW, Desai RR, Crotti L, et al. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation 2007; 115:368-376.
    • (2007) Circulation , vol.115 , pp. 368-376
    • Wang, D.W.1    Desai, R.R.2    Crotti, L.3
  • 36
    • 40649125752 scopus 로고    scopus 로고
    • Cardiac potassium channel dysfunction in sudden infant death syndrome
    • Rhodes TE, Abraham RA, Crotti L, et al. Cardiac potassium channel dysfunction in sudden infant death syndrome. J Mol Cell Cardiol 2008; 44:571-581.
    • (2008) J Mol Cell Cardiol , vol.44 , pp. 571-581
    • Rhodes, T.E.1    Abraham, R.A.2    Crotti, L.3
  • 37
    • 33750379473 scopus 로고    scopus 로고
    • Schwartz PJ. Newborn ECG screening to prevent sudden cardiac death. Heart Rhythm 2006; 11:1353-1355.
    • Schwartz PJ. Newborn ECG screening to prevent sudden cardiac death. Heart Rhythm 2006; 11:1353-1355.
  • 38
    • 33748058449 scopus 로고    scopus 로고
    • Cost-effectiveness of neonatal ECG screening for the Long QT-Syndrome
    • Quaglini S, Rognoni C, Spazzolini C, et al. Cost-effectiveness of neonatal ECG screening for the Long QT-Syndrome. Eur Heart J 2006; 15:1824-1832.
    • (2006) Eur Heart J , vol.15 , pp. 1824-1832
    • Quaglini, S.1    Rognoni, C.2    Spazzolini, C.3
  • 39
    • 3042660429 scopus 로고    scopus 로고
    • Stillbirths, sudden infant deaths, and long QT syndrome. Puzzle or mosaic, the pieces of the jigsaw are being fitted together
    • Schwartz PJ. Stillbirths, sudden infant deaths, and long QT syndrome. Puzzle or mosaic, the pieces of the jigsaw are being fitted together. Circulation 2004; 109:2930-2932.
    • (2004) Circulation , vol.109 , pp. 2930-2932
    • Schwartz, P.J.1
  • 40
    • 41749094862 scopus 로고    scopus 로고
    • Long QT Syndrome as a cause of stillbirths
    • Abstr Suppl:II_653
    • Crotti L, Insolia R, Ghidoni A, et al. Long QT Syndrome as a cause of stillbirths. Circulation 2007; 116 (Abstr Suppl):II_653.
    • (2007) Circulation , pp. 116
    • Crotti, L.1    Insolia, R.2    Ghidoni, A.3
  • 41
    • 34147146134 scopus 로고    scopus 로고
    • A mechanism for sudden infant death syndrome (SIDS): Stress-induced leak via ryanodine receptors
    • Tester DJ, Dura M, Carturan E, et al. A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm 2007; 4:733-739.
    • (2007) Heart Rhythm , vol.4 , pp. 733-739
    • Tester, D.J.1    Dura, M.2    Carturan, E.3
  • 42
    • 36048965546 scopus 로고    scopus 로고
    • Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome
    • Van Norstrand DW, Valdivia CR, Tester DJ, et al. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation 2007; 116:2253-2259.
    • (2007) Circulation , vol.116 , pp. 2253-2259
    • Van Norstrand, D.W.1    Valdivia, C.R.2    Tester, D.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.