A rare association of long QT syndrome and syndactyly: Timothy Syndrome (LQT 8)

Clinical Research in Cardiology

Volumn 100, Issue 12, 2011, Pages 1123-1127

  Krause, U ^a   Gravenhorst, V ^a   Kriebel, T ^a   Ruschewski, W ^a   Paul, T ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ATRIOVENTRICULAR BLOCK; BRADYCARDIA; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; LETTER; LONG QT SYNDROME; POINT MUTATION; RARE DISEASE; SYNDACTYLY; TIMOTHY SYNDROME;

ANTI-ARRHYTHMIA AGENTS; CALCIUM CHANNELS, L-TYPE; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; DEFIBRILLATORS, IMPLANTABLE; ELECTRIC COUNTERSHOCK; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LONG QT SYNDROME; MUTATION; PHENOTYPE; SYNDACTYLY; TREATMENT OUTCOME;

EID: 84855986290     PISSN: 18610684     EISSN: 18610692     Source Type: Journal    
DOI: 10.1007/s00392-011-0358-4     Document Type: Letter

References (13)

1. Crotti L, Celano G, Dagradi F, Schwartz PJ (2008) Congenital long QT syndrome. Orphanet J Rare Dis 3:18
2. Jacobs A, Knight BP, McDonald KT, Burke MC (2006) Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). Heart Rhythm 3:967-970 (Pubitemid 44103509)
3. Kriebel T, Ruschewski W, Gonzalez M et al (2006) ICD Implantation in infants and small children: The extracardiac technique. Pacing Clin Electrophysiol 29:1319-1325 (Pubitemid 44952380)
4. Marks ML, Trippel DL, Keating MT (1995) Long QT syndrome associated with syndactyly identified in females. Am J Cardiol 76:744-745
5. Marks ML, Whisler SL, Clericuzio C, Keating M (1995) A new form of long QT syndrome associated with syndactyly. J Am Coll Cardiol 25:59-64
6. Reichenbach H, Meister EM, Theile H (1992) The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet. Kinderarztl Prax 60:54-56
7. Shah DP, Baez-Escudero JL, Weisberg IL, Beshai JF, Burke MC (2010) Ranolazine Safely Decreases Ventricular and Atrial Fibrillation in Timothy Syndrome (LQT8). Pacing Clin Electrophysiol 9:30
8. Shimizu W, Aiba T, Antzelevitch C (2005) Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndrome. Curr Pharm Des 11:1561-1572 (Pubitemid 40691452)
9. Sicouri S, TimothyKW, Zygmunt AC et al (2007) Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: Effects of ranolazine. Heart Rhythm 4:638-647 (Pubitemid 46630371)
10. Splawski I, Timothy KW, Decher N et al (2005) Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A 102:8089-8096 (Pubitemid 40800048)
11. Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R (2009) Timothy Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K (eds) Gene Reviews [Internet]
12. Splawski I, Timothy KW, Sharpe LM et al (2004) Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119:19-31 (Pubitemid 39349317)
13. Yarotskyy V, Gao G, Peterson BZ, Elmslie KS (2009) The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. J Physiol 587:551-565