A Rare Association of Long QT Syndrome and Syndactyly: Timothy Syndrome (LQT 8)

Overview

Journal Clin Res Cardiol

Specialty Cardiology & Vascular Diseases

Date 2011 Sep 15

PMID 21915623

Citations 17

Authors

U Krause

V Gravenhorst

T Kriebel

W Ruschewski

T Paul

Affiliations

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Citing Articles

A Natural History Study of Timothy Syndrome.

Timothy K, Bauer R, Larkin K, Walsh E, Abrams D, Corcia C Orphanet J Rare Dis. 2024; 19(1):433.

PMID: 39580446 PMC: 11585941. DOI: 10.1186/s13023-024-03445-x.

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.

Jiang C, Zhang Y Expert Rev Mol Med. 2023; 25:e17.

PMID: 37132248 PMC: 10407238. DOI: 10.1017/erm.2023.11.

Geno- and phenotypic characteristics and clinical outcomes of gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.

Borbas J, Vamos M, Hategan L, Hanak L, Farkas N, Szakacs Z Front Cardiovasc Med. 2022; 9:1021009.

PMID: 36523353 PMC: 9745330. DOI: 10.3389/fcvm.2022.1021009.

Fetal Bradycardia Caused by Monogenic Disorders-A Review of the Literature.

Westphal D, Hauser M, Beckmann B, Wolf C, Hessling G, Oberhoffer-Fritz R J Clin Med. 2022; 11(23).

PMID: 36498454 PMC: 9741304. DOI: 10.3390/jcm11236880.

Update on the Molecular Genetics of Timothy Syndrome.

Bauer R, Timothy K, Golden A Front Pediatr. 2021; 9:668546.

PMID: 34079780 PMC: 8165229. DOI: 10.3389/fped.2021.668546.

References

Crotti L, Celano G, Dagradi F, Schwartz P . Congenital long QT syndrome. Orphanet J Rare Dis. 2008; 3:18. PMC: 2474834. DOI: 10.1186/1750-1172-3-18. View

Shah D, Baez-Escudero J, Weisberg I, Beshai J, Burke M . Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8). Pacing Clin Electrophysiol. 2010; 35(3):e62-4. DOI: 10.1111/j.1540-8159.2010.02913.x. View

Kriebel T, Ruschewski W, Gonzalez y Gonzalez M, Walter K, Kroll J, Kampmann C . ICD Implantation in infants and small children: the extracardiac technique. Pacing Clin Electrophysiol. 2007; 29(12):1319-25. DOI: 10.1111/j.1540-8159.2006.00542.x. View

Jacobs A, Knight B, McDonald K, Burke M . Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). Heart Rhythm. 2006; 3(8):967-70. DOI: 10.1016/j.hrthm.2006.04.024. View

Marks M, Trippel D, Keating M . Long QT syndrome associated with syndactyly identified in females. Am J Cardiol. 1995; 76(10):744-5. DOI: 10.1016/s0002-9149(99)80216-1. View

Splawski I, Timothy K, Decher N, Kumar P, Sachse F, Beggs A . Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005; 102(23):8089-96. PMC: 1149428. DOI: 10.1073/pnas.0502506102. View

Sicouri S, Timothy K, Zygmunt A, Glass A, Goodrow R, Belardinelli L . Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine. Heart Rhythm. 2007; 4(5):638-47. PMC: 1951535. DOI: 10.1016/j.hrthm.2006.12.046. View

Yarotskyy V, Gao G, Peterson B, Elmslie K . The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. J Physiol. 2008; 587(3):551-65. PMC: 2670080. DOI: 10.1113/jphysiol.2008.161737. View

Shimizu W, Aiba T, Antzelevitch C . Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndrome. Curr Pharm Des. 2005; 11(12):1561-72. PMC: 1475802. DOI: 10.2174/1381612053764823. View

10.

Splawski I, Timothy K, Sharpe L, Decher N, Kumar P, Bloise R . Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004; 119(1):19-31. DOI: 10.1016/j.cell.2004.09.011. View

11.

Reichenbach H, Meister E, THEILE H . [The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet]. Kinderarztl Prax. 1992; 60(2):54-6. View

12.

Marks M, Whisler S, Clericuzio C, Keating M . A new form of long QT syndrome associated with syndactyly. J Am Coll Cardiol. 1995; 25(1):59-64. DOI: 10.1016/0735-1097(94)00318-k. View