A rare association of long QT syndrome, syndactyly and atrial septal defect (timothy syndrome) – Case report and literature review

Abstract

Timothy syndrome (TS) is a rare genetic disorder characterized by an abnormally prolonged cardiac “repolarization” time (long QT interval). This predisposes individuals to arrhythmias, cardiac arrest and sudden death. Other features associated with this syndrome are webbing of fingers and/or toes (syndactyly); congenital heart defects (ASD, VSD, PDA or TOF); a weakened immune system; developmental delays and autism. About 25 cases of timothy syndrome have been reported in the literature until now. We report a case of timothy syndrome presenting at the age of 30 years with ASD, long QT syndrome, syndactyly and recurrent ventricular arrhythmias.