Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

Davide Bondavalli; Susan M White; Andrew Steer; Andreas Pflaumer; Ingrid Winship

doi:10.1002/ajmg.a.36917

Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

Am J Med Genet A. 2015 Apr;167A(4):802-4. doi: 10.1002/ajmg.a.36917. Epub 2015 Feb 5.

Authors

Davide Bondavalli¹, Susan M White, Andrew Steer, Andreas Pflaumer, Ingrid Winship

Affiliation

¹ 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.

PMID: 25655561
DOI: 10.1002/ajmg.a.36917

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.

Keywords: BHD; cancer genetics.

MeSH terms

Birt-Hogg-Dube Syndrome / diagnostic imaging*
Heart Neoplasms / diagnostic imaging*
Humans
Infant
Male
Rhabdomyoma / diagnostic imaging*
Ultrasonography