Premium
Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?
Author(s) -
Bondavalli Davide,
White Susan M,
Steer Andrew,
Pflaumer Andreas,
Winship Ingrid
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36917
Subject(s) - tuberous sclerosis , folliculin , birt–hogg–dubé syndrome , medicine , rhabdomyoma , feature (linguistics) , pathology , surgery , genetics , biology , pneumothorax , philosophy , gene , linguistics
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. © 2015 Wiley Periodicals, Inc.