The molecular genetics of the congenital long QT syndromes

Current Opinion in Cardiology

Volumn 11, Issue 1, 1996, Pages 45-51

  Russell, Mark W ^a   Dick II, Macdonald ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIARRHYTHMIC AGENT; POTASSIUM CHANNEL; SODIUM CHANNEL;

DISEASE CLASSIFICATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HEART REPOLARIZATION; HEART VENTRICLE ARRHYTHMIA; HUMAN; ION CURRENT; LONG QT SYNDROME; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW;

ANIMALS; CATION TRANSPORT PROTEINS; CHROMOSOMES, HUMAN, PAIR 4; DNA-BINDING PROTEINS; ETHER-A-GO-GO POTASSIUM CHANNELS; HUMANS; LINKAGE (GENETICS); LONG QT SYNDROME; MYOCARDIUM; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; TRANS-ACTIVATORS;

EID: 0029873823     PISSN: 02684705     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001573-199601000-00008     Document Type: Review

References (33)

1. Romano C, Gemme G, Pongiglione R: Artimie cardiache rare dell'eta pediatrica. Clin Pediatr 1963, 45:658-683.
2. Ward OC: New familial cardiac syndrome in children. J Irish Med Assoc 1964, 54:103-106.
3. Jervell A, Lange-Nielsen F: Congenital deaf-mutism, functional heart diseases, with prolongation of the QT interval and sudden death. Am Heart J 1957, 54:59-68.
4. Schwartz PJ, Bonazzi O, Locati E, Napolitano, Sala S: Pathogenesis and therapy of the idiopathic long QT syndrome. Ann N Y Acad Sci 1992, 644:112-141.
5. Breithardt G, Wichter T, Haverkamp W, Borgrefe M, Block M, Hammel D, Scheid HH: Implantable cardioverter defibrillator therapy in patients with arrhythmogenic right ventricular cardiomyopathy, long QT syndrome, or no structural heart disease. Am Heart J 1994, 127(4 pt 2):1151-1158.
6. Garson A Jr, Dick M II, Foumier A, Gillette PC, Hamilton R, Kugler JD, van Hare GF III, Vetter V, Vick W III: The long QT syndrome in children. An international study of 287 patients. Circulation 1993, 7:1866-1872.
7. Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, MacCluer J, Hall WJ, Weitkamp L, Vincent GM, Garson A Jr.: The long QT syndrome. Prospective longitudinal study of 328 families. Circulation 1991, 84: 1136-1144.
8. Keating M, Atkinson D, Kunn C, Timothy K, Vincent GM, Leppert M: Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991, 252:704-706.
9. Benhorin J, Kalman YM, Medina A, Towbin J, Rave-Harel N, Dyer TD, Blangero J, MacCluer JW, Kerem B: Evidence of genetic heterogeniety in the long QT syndrome. Science 1993, 260:1960-1961.
10. Curran M, Atkinson D, Timothy K, Vincent GM, Moss AJ, Leppert M, Keating M: Locus heterogeneity of autosomal dominant long QT syndrome. J Clin Invest 1993, 92:799-803.
11. Vincent GM, Timothy K, Leppert M, Keating M: The spectrum of symptoms and QT intervals in carriers of the gene for the long QT syndrome. N Engl J Med 1992, 327:846-852.
12. Shimizu W, Kamakura S, Ohe T, Kurita T, Takaki H, Aihara N, Shimomura K: Diagnostic value of recovery time measured by body surface mapping in patients with congenital long QT syndrome. Am J Cardiol 1994, 74:780-785.
13. De Ambroggi L, Negroni MS, Monza E, Bertoni T, Schwartz PJ: Dispersion of ventricular repolarization in the long QT syndrome. Am J Cardiol 1991, 68:614-620.
14. Yoshinaga M, Tomari T, Aihoshi S, Kawashita T, Nishi J, Tanaka Y: Exponential correction of QT interval to minimize the effect of the heart rate in children. Jpn Circ J 1993, 57:102-108.
15. Berul CI, Sweeten TL, Dubin AM, Shah MJ, Vetter VL: Use of the rate-corrected JT interval for prediction of repolarization abnormalities in children. Am J Cardiol 1994, 74:1254-1257. The first study examining the use of the JT interval to predict repolarization abnormalities in children. Eventually, JT interval measurement may replace QT measurement for identifying patients with repolarization defects because, unlike the QT interval, it does not include the depolarization phase in the measurement.
16. Towbin JA, Li H, Taggert RT, Lehmann MH, Schwartz PJ, Satler CA, Ayyagari R, Robinson JL, Moss A, Hejtmancik JF: Evidence for genetic heterogeneity In Romano-Ward long QT syndrome: analysis of 23 families. Circulation 1994, 90:2635-2644. This study presents HRAS1 region linkage information on a large collection of LQTS families. It establishes definite linkage of the LQTS to the LQT1 locus in one family, suggests linkage in six families and can't rule out linkage in eight families. In eight families, there is a negative LOD score between the LOTS and markers in the HRAS1 region, supporting genetic heterogeneity of the disorder.
17. Tanaka T, Nakahara K-i, Kato N, Imai T, Yamazaki T, Tomita H, Shimokawa H, Matsuhashi H, Sato N, Matsui M, Kihira S, Shimizu A, Sano T, Haneda N, Kino M, Miyakita Y, Matsuoka R, Nagai R, Yazaki Y, Nakamura Y: Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families. Hum Genet 1994, 94:380-384. This study is very similar to that of Towbin et al. (Circulation 1994, 90:2635-2644) and finds a similar prevalence of LQT1-linked long QT syndrome among 13 Japanese LQTS families.
18. Jiang C, Atkinson D, Towbin JA, Splawski I, Lehman MH, Li H, Timothy K, Taggert RT, Vincent GM, Moss AJ, Keating MT: Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further hetero geneity. Nat Genet 1994, 8:141-147. In this study, linkage of the LQTS to loci on chromosomes 3 (LQT3) and 7 (LQT2) were established. This study was the foundation for the subsequent identification of the LOT2 and LQT3 genes.
19. Schott J-J, Peltier S, Foley P, Drouin E, Bouhour JB, Donnely P, Vergnaud G, Moisan J-P, Le Marec H, Pascal O: Mapping of a new gene for the long QT syndrome. Circulation 1994, 90:1-605.
20. Keating M: Linkage analysis and the long QT syndrome: Using genetics to study cardiovascular disease. Circulation 1992, 85:1973-1986.
21. Russell MW, Brody LC, Munroe D, Dick MII, Collins FS: Characterization of a recombination event excluding the Harvey-ras-1 locus in Romano-Ward family linked to chromosome 11p15 and isolation of a polymorphic repeat telomeric to H-ras-1. Am J Hum Genet 1994, 55(suppl):A353.
22. Roy N, Kahlem P, Dausse E, Bennaceur M, Faure S, Weissenbach J, Komajda M, Denjoy I, Coumel P, Schwartz K, et al.: Exclusion of HRAS from the long QT locus. Nat Genet 1994, 8:113-114. A brief report describing the inheritance of an unaffected HRAS1 haplotype by an affected individual in a LQT1 -linked long QT syndrome family.
23. Gellens M, George A, Chen L, Chahine M, Hon R, Barchi R, Kallen R: Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage dependant sodium channel. Proc Natl Acad Sci U S A 1992, 89:554-558.
24. + channel α-subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet 1995, 68:6 7-70.
25. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson J, Moss AJ, Towbin JA, Keating MT: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995, 80:805-811. In two large unrelated families with LQTS-linked LQTS, all affected family members are demonstrated to have an identical 9-base-pair, in-frame deletion, indicating that the SCN5A gene is responsible for LQT3-linked LQTS.
26. Fontaine B, Khurana TS, Hoffman EP, Bruns G, Haines JL, Trofatter JA, Hanson MP, Rich J, Macfarlane H, Yasek DM, Romano D, Gusella J, Brown R: Hyperkalemic periodic paralysis and the skeletal muscle sodium channel gene. Science 1990, 250:1000-1002.
27. 2+ and modulated by cAMP. Nature 1993, 365:445-448.
28. Warmke JE, Ganetsky B: A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci U S A 1994, 91:3438-3442. In this study, the HERG gene is cloned and mapped to chromosome 7. Some of the properties of the HERG channel are also investigated.
29. Curran ME, Splawski I, Timothy K, Vincent GM, Green ED, Keating MT: A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995, 80:795-803. Using single strand conformational polymorphism analysis, this study describes six LQTS families in whom the affected members possess abnormalities of the HERG gene. In one case, a new mutation in the HERG gene caused "spontaneous" long QT syndrome in an offspring of two unaffected parents. This study presents definitive evidence that the HERG gene is responsible for LQT2-linked LQTS.
30. Jackman WM, Friday KJ, Anderson JL, Aliot EM, Clark M, Lazzara R: The long QT syndromes: a critical review, new clinical observations and a unifying hypothesis. Prog Cardiovasc Dis 1988, 31:115-172.
31. KR current.
32. Shibasaki T: Conductance and kinetics of delayed rectifier potassium channels in nodal cells of the rabbit heart. J Physiol 1987, 387:227-250.
33. Keating M, Dunn C, Atkinson D, Timothy K, Vincent GM, Leppert M: Consistent linkage of the long QT syndrome to the Harvey Ras-1 locus on chromosome 11. Am J Hum Genet 1991, 49:1335-1339.