Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report

Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report

Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in TSC1 or TSC2 genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who...

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Bibliographic Details
Main Authors: Aya Kawasaki, MD, Hidefumi Tonoki, MD, PhD, Osamu Sasaki, MD, PhD, Yoko Matsushita, MD, PhD, Michiko Watari, MD, PhD, Nobuhiro Takahashi, MD, Satoko Fujieda, MD
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Radiology Case Reports
Subjects:
Fetal cardiac tumor
Rhabdomyomas
TSC1 or TSC2 gene
Tuberous sclerosis (TS)
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043324013281
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