Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning

New England Journal of Medicine

Volumn 341, Issue 15, 1999, Pages 1121-1125

  Ackerman, Michael J ^a   Tester, David J ^a   Porter, Co Burn J ^a   Edwards, William D ^b  

^a Mayo Eugenio Litta Children's Hospital   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CAUSE OF DEATH; DROWNING; FEMALE; HUMAN; LONG QT SYNDROME; PRIORITY JOURNAL; QT INTERVAL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; HUMANS; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; NEAR DROWNING; PEDIGREE; POLYMERASE CHAIN REACTION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 0033533770     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199910073411504     Document Type: Article

References (14)

1. O'Flaherty JE, Pine PL. Prevention of pediatric drowning and near-drowning: a survey of members of the American Academy of Pediatrics. Pediatrics 1997;99:169-74.
2. Mizuta R, Fujita H, Osamura T, Kidowaki T, Kiyosawa N. Childhood drownings and near-drownings in Japan. Acta Paediatr Jpn 1993;35:186-92.
3. Kallas HJ, O'Rourke PP. Drowning and immersion injuries in children. Curr Opin Pediatr 1993;5:295-302.
4. Ackerman MJ. The long QT syndrome: ion channel diseases of the heart. Mayo Clin Proc 1998;73:250-69.
5. Abbott GW, Sesti F, Splawski I, et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999; 97:175-87.
6. Garson A Jr, Dick M II, Fournier A, et al. The long QT syndrome in children: an international study of 287 patients. Circulation 1993;87:1866-72.
7. Moss AJ, Schwartz PJ, Crampton RS, et al. The long QT syndrome: prospective longitudinal study of 328 families. Circulation 1991;84:1136-44.
8. Ackerman MJ, Schroeder JJ, Berry R, et al. A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. Pediatr Res 1998;44:148-53.
9. Anderson MA, Gusella JF. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro 1984;20: 856-8.
10. Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT. Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1, Genomics 1998;51:86-97.
11. Wang Q, Li Z, Shen J, Keating MT. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 1996; 34:9-16.
12. Moss AJ, Zareba W, Benhorin J, et al. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995;92:2929-34.
13. Maron BJ, Moller JH, Seidman CE, et al. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. Circulation 1998;98:1460-71.
14. Priori SG, Barhanin J, Hauer RNW, et al. Genetic and molecular basis of cardiac arrhythmias: impact on clinical management. Circulation 1999; 99:518-28.