Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

Authors :: Bondavalli D
White SM
Steer A
Pflaumer A
Winship I
Source :: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Apr; Vol. 167A (4), pp. 802-4. Date of Electronic Publication: 2015 Feb 05.
Publication Year :: 2015
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.<br /> (© 2015 Wiley Periodicals, Inc.)