Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex.

Autor: Kondo T; Medical Examiner's Office of Hyogo Prefecture, Kobe, Japan; Division of Legal Medicine, Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: kondo@med.kobe-u.ac.jp., Niida Y; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Uchinada, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan., Nagasaki Y; Medical Examiner's Office of Hyogo Prefecture, Kobe, Japan., Ueno Y; Medical Examiner's Office of Hyogo Prefecture, Kobe, Japan; Division of Legal Medicine, Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan., Nishimura A; Medical Examiner's Office of Hyogo Prefecture, Kobe, Japan; Department of Forensic Medicine, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
Jazyk: angličtina
Zdroj: Legal medicine (Tokyo, Japan) [Leg Med (Tokyo)] 2019 Feb; Vol. 36, pp. 37-40. Date of Electronic Publication: 2018 Oct 09.
DOI: 10.1016/j.legalmed.2018.10.001
Abstrakt: 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 is the most common cardiac tumor diagnosed in fetuses, neonates and infants, and is closely linked to TSC. Here we describe an autopsy case of right ventricular rhabdomyoma in TSC. The deceased was a 3-month-old male infant, and TSC with a cardiac tumor had been diagnosed before his death. Since the cardiac tumor had not been physically blocking the blood flow, he had not undergone surgical intervention. At autopsy, the patient's height was 62 cm and his body weight was 6 kg. The heart weighed 37.3 g and the right ventricle was filled with the tumor. The tumor measured 2.1 cm × 1.6 cm, being a fusion of multiple tumors with several attachment sites to the myocardium. Histologically, the tumor was diagnosed as a rhabdomyoma, and was positive for mammalian target of rapamycin (mTOR). The brain weighed 795.0 g, without hydrocephalus. The cut surface of the brain revealed multiple cortical tubers and subependymal nodules. Through screening for the TSC1 (hamartin) and TSC2 (tuberin) genes, a nonsense mutation, c.1108C>T:p.Gln370 ∗ , was detected in the TSC2 gene. Immediate cause of death was determined to be ventricular obstruction by a cardiac rhabdomyoma with insidious growth. This case highlights the need for forensic pathologists to perform a complete autopsy to determine the cause of sudden death with cardiac tumor, including genetic examination.
(Copyright © 2018 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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