Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound.
The authors report a case of tuberous sclerosis (TS), diagnosed by prenatal ultrasound, which was suspected by the detection of intracardiac tumours and confirmed by the family investigation. Cardiac rhabdomyomata can be visualized early on echography and must suggest this diagnosis. The place of genetic counselling and prenatal diagnosis in TS is examined.
D004452:Echocardiography; D005260:Female; D006338:Heart Neoplasms / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012207:Rhabdomyoma / Q000150:complications / Q000175:diagnosis*; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D014463:Ultrasonography