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 kn...

To cite: Shukla AK, Reddy AK, Latha A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-209256 DESCRIPTION A 22-year-old primiparous woman was referred for a routine antenatal fetal scan. During the scan multiple intracardiac echogenic tumours were detected at 24 weeks gestation. A smaller mass was visible in the left ventricle while a larger one was s...

Introduction A heart tumor in children is rare and the most primary tumor of the heart is rhabdomyoma. We report a case of cardiac mass diagnosed at 32th weeks of pregnancy while the mother had gestational diabetes Mellitus. Serial echocardiography revealed regression of the tumor; then follow up of the patient confirmed tuberous sclerosis.