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Fetal intracardiac rhabdomyoma in beckwith‐wiedemann syndrome
Author(s) -
Longardt Ann Carolin,
nenmacher Andreas,
GraulNeumann Luitgard,
OpgenRhein Bernd,
Henrich Wolfgang,
Bührer Christoph,
Hüseman Dieter
Publication year - 2014
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22164
Subject(s) - medicine , macroglossia , beckwith–wiedemann syndrome , rhabdomyoma , hemihypertrophy , tuberous sclerosis , pathognomonic , omphalocele , prenatal diagnosis , gigantism , arthrogryposis , fetus , intracardiac injection , obstetrics , surgery , pregnancy , radiology , pathology , tongue , biochemistry , gene expression , chemistry , disease , genetics , biology , dna methylation , gene
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. © 2014 Wiley Periodicals, Inc. J Clin Ultrasound 42 :569–573, 2014