Prenatal Diagnosis of Rhabdomyomas and Cerebral Tuberous Sclerosis by Magnetic Resonance Imaging in One Fetus of a Dizygotic Twin Pregnancy Associated With a Frameshift Mutation in the TSC2 Gene

摘要

A 28-year-old woman, gravida 3, para 0, was referredto our hospital at 30 weeks of gestation for evaluationof cardiac tumors in one fetus of a twin pregnancy. Thewoman had not undergone any assisted reproductivetechnology. She and her husband were healthy and hadno family history of tuberous sclerosis complex (TSC) orcardiac tumors. Previous sonographic examination hadrevealed a dichorionic and diamniotic twin pregnancy.Detailed sonographic examination of the fetuses demonstrated a normal heart in one male co-twin and multiple rhabdomyomas in the left ventricle (LV) in theother male co-twin. The affected co-twin had six intracardiac tumors, including three tumors measuring 1.87×1.42 cm, 1.12× 1.04 cm and 0.84× 1.00 cm, respectivelyin the inlet of the LV, a 1.41 × 0.74-cm tumor in the apexof the LV, and a 0.52 × 1.12-cm tumor in the LV sideof the interventricular septum near the apex.