Key result
A 30-year-old patient presented with a rare case of Timothy syndrome characterized by atrial septal defect, long QT syndrome, syndactyly, and recurrent ventricular arrhythmias.
Case Report (n=1)
This case report highlights a rare presentation of Timothy syndrome in a 30-year-old adult with long QT syndrome, syndactyly, and an atrial septal defect.
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Alerts clinicians to rare adult Timothy syndrome survival; extends phenotypic spectrum but leaves management questions open.
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.
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Sihag et al. (2017) conducted a case report in Timothy syndrome (n=1). A 30-year-old patient presented with a rare case of Timothy syndrome characterized by atrial septal defect, long QT syndrome, syndactyly, and recurrent ventricular arrhythmias.
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