title: Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?
abstract: We report on a child with two cardiac rhabdomyomas. Initially, a diagnosis of Tuberous Sclerosis Complex (TSC) syndrome was suspected, although this could neither be confirmed clinically nor genetically. Coincidentally, Birt Hogg Dubé syndrome (BHD) had been previously diagnosed in members of the extended family; this prompted a diagnostic re-evaluation of the child who was found to have the known family FLCN mutation. We recommend consideration of cardiac rhabdomyomas as part of the clinical BHD spectrum.
authors: Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, Australia; Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.
authors: Davide
authors: D
authors: Bondavalli
authors: Susan M
authors: SM
authors: White
authors: Andrew
authors: A
authors: Steer
authors: Andreas
authors: A
authors: Pflaumer
authors: Ingrid
authors: I
authors: Winship
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000000981:diagnostic imaging*; D006338:Heart Neoplasms / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008297:Male; D012207:Rhabdomyoma / Q000000981:diagnostic imaging*; D014463:Ultrasonography
keywords: BHD; cancer genetics