Unmasking Antenatal Tuberous Sclerosis and 13 Years Retrospective Review of Its Diverse Presentations, Clinical-Imaging Follow Up and Learning the Latest Advances in Management

Abstract

A 27 year old multigravida, presented with giant left ventricular cardiac rhabdomyoma at the 23rd gestational week. A previous bad obstetric history prompted amniocentesis. A heterozygous, pathogenic, missense variant in exon 40 of the Tuberous Sclerosis (TSC 2) gene with autosomal dominant inheritance was extracted from fetal DNA by targeted gene capture. Sanger's sequencing confirmed the same. This fetus highlighted the need for genetic assessment in every cardiac rhabdomyoma and a paradigm shift in fetal counseling protocol. We retrospectively reviewed our personal, multi-centric 13 years (2008-2020) database of cardiac rhabdomyomas in the fetal and pediatric cohort. Cardiac rhabdomyoma preceded extra-cardiac manifestations of Tuberous Sclerosis in 87.5% of our cohort. This article underscores this forgotten ominous association. We propose a paradigm shift in fetal counseling in such a scenario, remembering the heterogeneous timing and presentations of this widely variable genetic lesion.