Vol - 25, Issue - 6
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[This article belongs to Volume - 25, Issue - 6]
International Medical Journal
Journal ID : IMJ-10-06-2020-501
Total View : 252
Title : Fetal Cardiac Rhabdomyoma helps to diagnose maternal and fetal tuberous sclerosis: a case report from a tertiary care hospital in India

Abstract : Cardiac Rhabdomyomas are the most common benign cardiac tumours of infancy. They are often associated with Tuberous Sclerosis Complex (TSC). Familial TSC has got about 95% penetrance. Being characterized by cutaneous stigmata in the form of facial angiofibromas, adenoma sebaceum and ashleaf macules, they are easily diagnosed in the clinical scenario. Neonatal tuberous sclerosis is not so commonly diagnosed from cutaneous stigmata. Occult TSC can be retrospectively diagnosed based on echocardiographic findings of cardiac rhabdomyomas in infants. This case report is an example of one rare case where maternal and neonatal tuberous sclerosis was diagnosed retrospectively after the diagnosis of fetal cardiac rhabdomyoma on level II ultrasound and subsequent confirmation on echocardiography. Presenly baby is asymptomatic and is planned for conservative management and follow-up
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