RESUMEN
Rare hereditary affection, the Bourneville's tuberous sclerosis (BTS) is an autosomal dominant inherited phakomatosis. Rhabdomyomes are the most frequent cardiac tumors in children and infants, they are one of the most premature modes of revelation of the STB. They sometimes allow to envisage the diagnosis in antenatal period at the same time as the genetic and neurological explorations. We report the diagnosis of a fetal BTS evoked by the antenatal discovery of a cardiac rhabdomyome. The antenatal cerebral explorations, realized by magnetic resonance imagery (MRI), put evidence cerebral localisations confirming the diagnosis.
Asunto(s)
Neoplasias Cardíacas/diagnóstico , Diagnóstico Prenatal , Rabdomioma/diagnóstico , Esclerosis Tuberosa/diagnóstico , Adulto , Femenino , Neoplasias Cardíacas/complicaciones , Humanos , Rabdomioma/complicaciones , Esclerosis Tuberosa/complicacionesRESUMEN
Thirty-four observations of papillary fibroelastoma (PFE) of the mitral valve have to date been reported in the literature. Our findings are the tenth so far documented on PFE revealed by a cerebral ischaemic vascular accident. The echocardiographic investigation detected a pedunculated tumour of the mitral valve 9 mm in diameter, and associated with moderate mitral leakage. The tumour was surgically excised tumour confirmed the original PFE diagnosis. The evolution seven years after surgery is favourable, with no signs of tumour recurrence and good functioning of the mitral valve system.