Abstract

Rhabdomyomatosis of the heart associated with tuberous sclerosis. A case report and review of the literature

Author(s): Kouroupi Maria, Alexiadis Triantafyllos, Karamanidis Dimitrios, Koutsougeras Gerasimos, Giatromanolaki Alexandra and Lambropoulou Maria

Congenital heart rhabdomyomatosis is a rare condition that is associated in most cases with tuberous sclerosis, a genetic syndrome inherited with an autosomal dominant pattern. The last is caused by a mutation in tuberous sclerosis 1 or tuberous sclerosis 2 genes. We report a case of heart rhabdomyomatosis, associated with tuberous sclerosis. The lesion was discovered at 21st week of gestation of a 36-year-old woman.