A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8)

References (1)

1. Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119: 19-31. [CrossRef] 2. Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci 2005; 102: 8089-96. [CrossRef] 3. Yarotskyy V, Gao G, Peterson BZ, Elmslie KS. The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. J Physiol 2009; 587: 551-65. [CrossRef] 4. Gao Y, Xue X, Hu D, Liu W, Yuan Y, Sun H, et al. Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in Timothy syndrome. Circ Arrhythm Electrophysiol 2013; 6: 614-22. [CrossRef] 5. Krause U, Gravenhorst V, Kriebel T, Ruschewski W, Paul T. A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8). Clin Res Cardiol 2011; 100: 1123-7. [CrossRef] 6. Tester DJ, Ackerman MJ. Genetics of long QT syndrome. Methodist Debakey Cardiovasc J 2014; 10: 29-33. [CrossRef] 7. Jacobs A, Knight BP, McDonald KT, Burke MC. Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). Heart Rhythm 2006; 3: 967-70. [CrossRef] 8. Sicouri S, Timothy KW, Zygmunt AC, Glass A, Goodrow RJ, Belardinelli L, et al. Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine. Heart Rhythm 2007; 4: 638-47. [CrossRef]