RT Journal Article
SR Electronic
T1 Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 1116
OP 1118
DO 10.1136/jmg-2024-110349
VO 61
IS 12
A1 Petit, Florence
A1 Devisme, Louise
A1 Tchernitchko, Dimitri
A1 Domanski, Olivia
A1 Gonzalez-Corcia, Cecilia
A1 Wemeau-Stervinou, Lidwine
A1 Lejeune, Sophie
YR 2024
UL http://jmg.bmj.com/content/61/12/1116.abstract
AB Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal disorder, primarily characterised in adults by cutaneous features, pulmonary cysts that predispose to spontaneous pneumothorax and renal tumours. The syndrome is caused by pathogenic variants in the FLCN tumour suppressor gene, which plays a role in the mammalian target of rapamycin (mTOR) signalling pathway. We present the case of a newborn infant diagnosed with BHDS, who died of sudden cardiac death due to complications from cardiac rhabdomyoma. This is only the second reported case of such an association. Both cases were initially misdiagnosed with tuberous sclerosis complex, highlighting the diagnostic challenges. We discuss this differential diagnosis and suggest that cardiac rhabdomyomas, although rare, may be associated with BHDS and potentially life threatening. Therefore, we recommend cardiac screening in newborns at risk.