[MIM 601 005]

Very rare. It is due to a mutation on the short arm of chromosome 12 that causes dysfunction of the CAC-NA1C calcium channel.  Association of a congenital long QT (LQT8) (or other disturbances of  cardiac rhythm as a 2/1 AVB) with a syndactyly, a congenital heart defect, a some immunodepression and an autistic-like behavior.

Anesthetic implications:

see long congenital QT

References:

-         Reynolds AMJ, Auden SM, Sobczyzk WL. 
Perioperative considerations in a newly described subtype of congenital long QT syndrome.
Paediatr Anaesth 1997; 7: 237-41

-        Yates D, Yates A, Collyer T. 
A life-threatening complication of the arterial tourniquet in Timothy syndrome. 
Pediatr Anesth 2007; 17: 492-5.

-        Nathan AT, Antzelevitch C, Montenegro LM, Vetter VL. 
Case scenario: anesthesia-related caardiac arrest in a child with Timothy syndrome. 
Anesthesiology 2012; 117:1117-26

-        Isserman RS, Simpao AF, Schwartz AJ, Pearsall MF.
T-wave alternans and long QT syndrome.
Anesthesiology 2017; 127: 567.

Updated: September 2017