Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex

摘要: Abstract Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. Rhabdomyoma most common cardiac tumor diagnosed fetuses, neonates infants, closely linked to TSC. Here we describe an autopsy case of right ventricular rhabdomyoma The deceased was 3-month-old male infant, TSC with had been before his death. Since not physically blocking blood flow, he undergone surgical intervention. At autopsy, patient’s height 62 cm body weight 6 kg. heart weighed 37.3 g ventricle filled tumor. measured 2.1 cm × 1.6 cm, being fusion multiple tumors attachment sites myocardium. Histologically, as rhabdomyoma, positive for mammalian target rapamycin (mTOR). brain 795.0 g, without hydrocephalus. cut surface revealed cortical tubers subependymal nodules. Through screening TSC1 (hamartin) TSC2 (tuberin) genes, nonsense mutation, c.1108C>T:p.Gln370∗, detected gene. Immediate cause death determined be obstruction insidious growth. This highlights need forensic pathologists perform complete determine sudden tumor, examination.