Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine

We report a detailed case of type 2 TS due to p.(Gly402Ser) mutation in exon 8 the CACNA1C gene. The patient shows marked prolongation repolarization with mean QTc 540 ms. He no structural heart disease, syndactyly, or cranio-facial abnormalities. However, he developmental delays, without autism, and dental cardiac phenotype is very severe, resuscitated arrest at 2.5 years age, followed by 26 appropriate shocks during nine follow-up. Adding mexiletine nadolol resulted reduction slight decrease number shocks.