A rare case report of corrected transposition of the great arteries in association with tuberous sclerosis and cardiac rhabdomyomas

Garg, Rajiv; Thakkar, Bhavesh; Oswal, Nilesh

doi:10.1017/s1047951113002047

Cited by 2 publications

(1 citation statement)

References 9 publications

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“…Los rabdomiomas cardíacos fetales pueden ir asociados a transposición de grandes vasos, estenosis pulmonar, doble salida de ventrículo derecho. (8,9,10) La literatura es implia en cuanto a las manifestaciones clínicas de esta entidad la cuales pueden afectar Piel, Riñones, Sistema Nervioso Central, sistema cardiovascular en entre otros como se describe a continuación.…”

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Prenatal diagnosis of Fetal Cardiac Rhabdomyomaassociated with Familial Tuberous Sclerosis

Pestañas León,

Aguirre-Cruz,

Sosa-Palaviccini

et al. 2024

Interamerican Journal of Health Sciences

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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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Section: Discussionunclassified

Prenatal diagnosis of Fetal Cardiac Rhabdomyomaassociated with Familial Tuberous Sclerosis

Pestañas León,

Aguirre-Cruz,

Sosa-Palaviccini

et al. 2024

Interamerican Journal of Health Sciences

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Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

et al. 2019

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Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors’ size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn’s family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.

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A rare case report of corrected transposition of the great arteries in association with tuberous sclerosis and cardiac rhabdomyomas

Cited by 2 publications

References 9 publications

Prenatal diagnosis of Fetal Cardiac Rhabdomyomaassociated with Familial Tuberous Sclerosis

Prenatal diagnosis of Fetal Cardiac Rhabdomyomaassociated with Familial Tuberous Sclerosis

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

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