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Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature
Frudit, Paula; Vitturi, Bruno Kusznir; Navarro, Flavia Cristina; Rondelli, Ivan; Pozzan, Geanete.
Affiliation
  • Frudit, Paula; Santa Casa de São Paulo. School of Medical Sciences. São Paulo. BR
  • Vitturi, Bruno Kusznir; Santa Casa de São Paulo. School of Medical Sciences. São Paulo. BR
  • Navarro, Flavia Cristina; Irmandade da Santa Casa de Misericórdia de São Paulo. Department of Pediatrics. São Paulo. BR
  • Rondelli, Ivan; Irmandade da Santa Casa de Misericórdia de São Paulo. Department of Pathology. São Paulo. BR
  • Pozzan, Geanete; Irmandade da Santa Casa de Misericórdia de São Paulo. Department of Pathology. São Paulo. BR
Autops. Case Rep ; 9(4): e2019125, Oct.-Dec. 2019. ilus, tab
Article in English | LILACS | ID: biblio-1024200
Responsible library: BR26.7
ABSTRACT
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.
Subject(s)


Full text: Available Collection: International databases Database: LILACS Main subject: Rhabdomyoma / Tuberous Sclerosis / Heart Neoplasms Type of study: Prognostic study Limits: Female / Humans / Infant, Newborn Language: English Journal: Autops. Case Rep Journal subject: Anatomia / Patologia Cl¡nica / Patologia Legal Year: 2019 Document type: Article Affiliation country: Brazil Institution/Affiliation country: Irmandade da Santa Casa de Misericórdia de São Paulo/BR / Santa Casa de São Paulo/BR

Full text: Available Collection: International databases Database: LILACS Main subject: Rhabdomyoma / Tuberous Sclerosis / Heart Neoplasms Type of study: Prognostic study Limits: Female / Humans / Infant, Newborn Language: English Journal: Autops. Case Rep Journal subject: Anatomia / Patologia Cl¡nica / Patologia Legal Year: 2019 Document type: Article Affiliation country: Brazil Institution/Affiliation country: Irmandade da Santa Casa de Misericórdia de São Paulo/BR / Santa Casa de São Paulo/BR
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