Prenatal diagnosis of Fetal Cardiac Rhabdomyoma associated with Familial Tuberous Sclerosis




Fetal cardiac rhabdomyoma, Tuberous sclerosis, Transposition of great vessels, Prenatal diagnosis


Introduction: Of the fetal heart tumors, the most common are rhabdomyomas. Its prevalence is based on 11,000 autopsies performed on children and is 0.027%.1 Its diagnosis in the prenatal stage is a challenge, however, it has been reported in the second and third trimesters of gestation.
Clinical case: 19-year-old female patient with a history of presenting with lipothymia at 2 years of age. Given these manifestations, she underwent different studies, including Cranial Magnetic Resonance (MRI), which concluded as a diagnosis of Tuberous Sclerosis. In its current state of gestation, at week 33, a finding is seen that corresponds to unilateral pulmonary agenesis; at 35 weeks, liver and kidney ultrasounds are performed on the mother and fetal ultrasound. Serial ultrasound findings revealed maternal hepatic and renal hemangiolipoma. Fetal biventicular rhabdomyoma with probable transposition of the great vessels and pulmonary artery stenosis.
Discussion: Rhabdomyomas are the most common fetal cardiac tumors. In our clinical case, the pregnant woman had a history of Bourneville Tuberous Sclerosis. The definitive diagnosis of maternal pathologies was made in the 3rd trimester. It was complicated to manage due to suspicion of additional heart disease of the Classical Transposition of the Great Vessels type, evidenced by imaging studies. He was subsequently referred to a more complex center for better follow-up and definitive treatment.
Conclusions: Fetal rhabdomyoma diagnosed prenatally is complex, requiring serial imaging studies and multidisciplinary follow-up. It is important to monitor the hemodynamic status and any cardiovascular repercussions of the pregnant woman. In addition, fetal structures including the central nervous system, heart and renal parenchyma must be carefully evaluated to avoid significant sequelae in those affected.


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How to Cite

Pestañas León AR, Aguirre-Cruz B, Sosa-Palaviccini MO, Auza-Santivañez JC, Apaza-Huanca B, Márquez Molina J, Díaz Lara Y. Prenatal diagnosis of Fetal Cardiac Rhabdomyoma associated with Familial Tuberous Sclerosis. Interamerican Journal of Health Sciences [Internet]. 2024 Feb. 23 [cited 2024 Jul. 21];4:183. Available from:



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