Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex

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 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 2.1cm × 1.6cm, 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.

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

“…In recent years, the number of diagnoses in the fetal period has increased along with technological advances in fetal ultrasound [ 30 ]. In most cases, it is asymptomatic and does not require treatment, but it is a lesion that can cause perinatal to neonatal death and is one of the emergency states of TSC [ 31 ]. The treatment with mTOR inhibitors (everolimus, sirolimus) is effective for cardiac rhabdomyomas of TSC [ 32 , 33 ], and the Japanese Society of Tuberous Sclerosis has published an “Expert opinion consensus for everolimus treatment” ( (in Japanese), last accessed on 27 August 2022).…”

Complejo esclerosis tuberosa: reporte de un caso clínico neonatal

“…El rabdomioma es un tumor benigno que se presenta en cualquier lugar del corazón, pero es más común en el ventrículo. Las localizaciones más frecuentes son el ventrículo izquierdo y el tabique ventricular, aunque hasta un 30% se localizan en la pared (6) auricular o en el ventrículo derecho .…”

“…Está estrechamente relacionado con la esclerosis tuberosa y se observa en el 60% de los pacientesy los síntomas que resultan del rabdomioma cardíaco son en gran parte consecuencia del tamaño del tumor o de la ubicación dentro del corazón. La cirugía se recomienda solo para pacientes con arritmias (6) refractarias o compromiso hemodinámico severo .…”