Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life a nationwide questionnaire survey in Japan

Circulation: Arrhythmia and Electrophysiology

Volumn 3, Issue 1, 2010, Pages 10-17

  Horigome, Hitoshi ^a   Nagashima, Masami ^b   Sumitomo, Naokata ^c   Yoshinaga, Masao ^d   Ushinohama, Hiroya ^e   Iwamoto, Mari ^f   Shiono, Junko ^g   Ichihashi, Koh ^h   Hasegawa, Satoshi ⁱ   Yoshikawa, Tadahiro ^j   Matsunaga, Tamotsu ^k   Goto, Hiroko ^l   Waki, Kenji ^m   Arima, Masaki ⁿ   Takasugi, Hisashi ^o   Tanaka, Yasuhiko ^p   Tauchi, Nobuo ^q   Ikoma, Masanobu ^r   Inamura, Noboru ^s   Takahashi, Hideto ^a   Shimizu, Wataru ^t   Horie, Minoru ^u   more..

^a UNIVERSITY OF TSUKUBA   (Japan)

^b AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^c NIHON UNIVERSITY   (Japan)

^d NATIONAL HOSPITAL ORGANIZATION KAGOSHIMA MEDICAL CENTER   (Japan)

^e FUKUOKA CHILDREN S HOSPITAL   (Japan)

^f YOKOHAMA CITY UNIVERSITY   (Japan)

^g Ibaraki Children's Hospital   (Japan)

^h JICHI MEDICAL UNIVERSITY   (Japan)

ⁱ NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^j SAKAKIBARA HEART INSTITUTE   (Japan)

^k SAITAMA MEDICAL UNIVERSITY   (Japan)

^l GIFU PREFECTURAL GIFU HOSPITAL   (Japan)

^m KURASHIKI CENTRAL HOSPITAL   (Japan)

ⁿ ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^o KOCHI MEDICAL SCHOOL   (Japan)

^p SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^q OGAKI MUNICIPAL HOSPITAL   (Japan)

^r JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^s RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^t NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^u SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

more..

Author keywords

Arrhythmia; Death (sudden); Genes; Long QT syndrome

Indexed keywords

AMIODARONE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; FLECAINIDE; LIDOCAINE; MAGNESIUM; MEXILETINE; NIFEDIPINE; PHENYTOIN; PROPRANOLOL; SOTALOL; ANTIARRHYTHMIC AGENT;

ARTICLE; ARTIFICIAL HEART PACEMAKER; ATRIOVENTRICULAR BLOCK; CLINICAL FEATURE; CONVULSION; DEFIBRILLATOR; ELECTROCARDIOGRAPHY; FAMILY HISTORY; FEMALE; FETUS; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEART ARREST; HEART ARRHYTHMIA; HEART VENTRICLE TACHYCARDIA; HUMAN; INFANT; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; NEWBORN; PERINATAL PERIOD; PRIORITY JOURNAL; SINUS BRADYCARDIA; SUDDEN DEATH; SYNCOPE; TORSADE DES POINTES; FETUS DISEASE; GENETICS; INFORMATION PROCESSING; JAPAN; MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS;

ANTI-ARRHYTHMIA AGENTS; DATA COLLECTION; DEATH, SUDDEN, CARDIAC; ELECTROCARDIOGRAPHY; FEMALE; FETAL DISEASES; GENOTYPE; HEART ARREST; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; LONG QT SYNDROME; MALE; MUTATION; PACEMAKER, ARTIFICIAL; PHENOTYPE; PRENATAL DIAGNOSIS;

EID: 77649280432     PISSN: 19413149     EISSN: 19413084     Source Type: Journal    
DOI: 10.1161/CIRCEP.109.882159     Document Type: Article

References (27)

1. Moss AJ, Kass RS. Long QT syndrome: from channels to cardiac arrhythmias. J Clin Invest. 2005; 115: 2018-2024.
2. Priori SG, Napolitano C, Schwartz PJ, Grillo M, Bloise R, Ronchetti E, Moncalvo C, Tulipani C, Veia A, Bottelli G, Nastoli J. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA. 2004; 292: 1341-1344.
3. Hofbeck M, Ulmer H, Beinder E, Sieber E, Singer H. Prenatal findings in patients with prolonged QT interval in the neonatal period. Heart. 1997; 77: 198-204.
4. Garson A Jr, Dick M II, Fournier A, Gillette PC, Hamilton R, Kugler JD, van Hare GF III, Vetter V, Vick GW III. The long QT syndrome in children: an international study of 287 patients. Circulation. 1993; 87: 1866-1872.
5. Gorgels AP, Al Fadley F, Zaman L, Kantoch MJ, Al Halees Z. The long QT syndrome with impaired atrioventricular conduction: a malignant variant in infants. J Cardiovasc Electrophysiol. 1998; 9: 1225-1232.
6. Lupoglazoff JM, Denjoy I, Villain E, Fressart V, Simon F, Bozio A, Berthet M, Benammar N, Hainque B, Guicheney P. Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004; 43: 826-830.
7. Shim SH, Ito M, Maher T, Milunsky A. Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005; 9: 281-284.
8. Chang CC, Acharfi S, Wu MH, Chiang FT, Wang JK, Sung TC, Chahine M. A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia. Cardiovasc Res. 2004; 64: 268-278.
9. Johnson WH, Yang P, Yang T, Lau YR, Mostella BA, Wolff DJ, Roden DM, Benson DW. Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. Pediatr Res. 2003; 53: 744-748.
10. Hoorntje T, Alders M, van Tintelen P, van der Lip K, Sreeram N, van der Wal A, Mannens M, Wilde A. Homozygous premature truncation of the HERG protein: the human HERG knockout. Circulation. 1999; 100: 1264-1267.
11. Schulze-Bahr E, Fenge H, Etzrodt D, Haverkamp W, Monnig G, Wedekind H, Breithardt G, Kehl HG. Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response. Heart. 2004; 90: 13-16.
12. Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Wang DW, Rhodes TE, George AL Jr, Schwartz PJ. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007; 115: 361-367. (Pubitemid 46148510)
13. Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R, Umetsu K, Hayasaka K. Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008; 64: 482-487.
14. Tester DJ, McCormack J, Ackerman MJ. Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping. Am J Cardiol. 2004; 93: 788-791.
15. Cuneo BF, Ovadia M, Strasburger JF, Zhao H, Petropulos T, Schneider J, Wakai RT. Prenatal diagnosis and in utero treatment of torsades de pointes associated with congenital long QT syndrome. Am J Cardiol. 2003; 91: 1395-1398.
16. Hamada H, Horigome H, Asaka M, Shigemitsu S, Mitsui T, Kubo T, Kandori A, Tsukada K. Prenatal diagnosis of long QT syndrome using fetal magnetocardiography. Prenat Diagn. 1999; 19: 677-680.
17. Horigome H, Iwashita H, Yoshinaga M, Shimizu W. Magnetocardiographic demonstration of torsade de pointes in a fetus with congenital long QT syndrome. J Cardiovasc Electrophysiol. 2008; 19: 334-335.
18. Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, Benhorin J, Locati EH, Towbin JA, Keating MT, Lehmann MH, Hall WJ. Influence of genotype on the clinical course of the long-QT syndrome: International Long-QT Syndrome Registry Research Group. N Engl J Med. 1998; 339: 960-965.
19. Beinder E, Grancay T, Menéndez T, Singer H, Hofbeck M. Fetal sinus bradycardia and the long QT syndrome. Am J Obstet Gynecol. 2001; 185: 743-747.
20. Trippel DL, Parsons MK, Gillette PC. Infants with long-QT syndrome and 2:1 atrioventricular block. Am Heart J. 1995; 130: 1130-1134.
21. Moss AJ, Zareba W, Kaufman ES, Gartman E, Peterson DR, Benhorin J, Towbin JA, Keating MT, Priori SG, Schwartz PJ, Vincent GM, Robinson JL, Andrews ML, Feng C, Hall WJ, Medina A, Zhang L, Wang Z. Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002; 105: 794-799.
22. Nagaoka I, Shimizu W, Itoh H, Yamamoto S, Sakaguchi T, Oka Y, Tsuji K, Ashihara T, Ito M, Yoshida H, Ohno S, Makiyama T, Miyamoto Y, Noda T, Kamakura S, Akao M, Horie M. Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008; 72: 694-699.
23. Miura M, Yamagishi H, Morikawa Y, Matsuoka R. Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene. Pediatr Cardiol. 2003; 24: 70-72.
24. Lupoglazoff JM, Cheav T, Baroudi G, Berthet M, Denjoy I, Cauchemez B, Extramiana F, Chahine M, Guicheney P. Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. Circ Res. 2001; 89: e16-e21.
25. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003; 112: 1019-1028.
26. Hansen RS, Olesen SP, Grunnet M. Pharmacological activation of rapid delayed rectifier potassium current suppresses bradycardia-induced triggered activity in the isolated Guinea pig heart. J Pharmacol Exp Ther. 2007; 321: 996-1002.
27. Ten Harkel AD, Witsenburg M, de Jong PL, Jordaens L, Wijman M, Wilde AA. Efficacy of an implantable cardioverter-defibrillator in a neonate with LQT3 associated-arrhythmias. Europace. 2005; 7: 77-84.