title: Fetal intracardiac rhabdomyoma in beckwith-wiedemann syndrome.
abstract: Fetal cardiac tumors are a rare finding in prenatal ultrasonography. Most of them are rhabdomyoma, which are thought to be pathognomonic for tuberous sclerosis complex. We present an infant with prenatally diagnosed cardiac rhabdomyoma (CR), who was found to suffer from Beckwith-Wiedemann syndrome (BWS). This congenital overgrowth syndrome is characterized by macrosomia, macroglossia, omphalocele, hypoglycemia, and hemihypertrophy. BWS patients have an increased risk for formation of benign and malignant tumors, typically intra-abdominally located, but, to the best of our knowledge, fetal CRs have not been reported before. BWS must be added to the list of differential diagnoses and to the prenatal counseling of the parents in cases of prenatal detection of CR.
authors.affiliation: Department of Neonatology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Ann Carolin
authors.initials: AC
authors.lastname: Longardt
authors.forename: Andreas
authors.initials: A
authors.lastname: Nonnenmacher
authors.forename: Luitgard
authors.initials: L
authors.lastname: Graul-Neumann
authors.forename: Bernd
authors.initials: B
authors.lastname: Opgen-Rhein
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Henrich
authors.forename: Christoph
authors.initials: C
authors.lastname: Bührer
authors.forename: Dieter
authors.initials: D
authors.lastname: Hüseman
mesh_terms: D000293:Adolescent; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications*; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005318:Fetal Heart / Q000000981:diagnostic imaging*; D006338:Heart Neoplasms / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology; D006801:Humans; D008297:Male; D011247:Pregnancy; D012207:Rhabdomyoma / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology; D016216:Ultrasonography, Prenatal / Q000379:methods*
keywords: Beckwith-Wiedemann syndrome; cardiac rhabdomyoma; fetal cardiac tumor; prenatal diagnosis; tuberous sclerosis complex