Symptomatic improvement using everolimus in infants with cardiac rhabdomyoma

Dhulipudi, Bhargavi; Bhakru, Shweta; Rajan, Sudarsan; Doraiswamy, Vinoth; Koneti, Nageswara Rao

doi:10.4103/apc.apc_79_18

Cited by 19 publications

(9 citation statements)

References 12 publications

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“…Por lo que se colige que existe potencial bene-ficio con el uso de este medicamento en casos sintomáticos seleccionados. Aún se necesitan estudios multicéntricos para determinar su seguridad y eficacia en una población más grande (16) .…”

Section: Casounclassified

Diagnóstico prenatal y seguimiento de tumores cardiacos fetales: serie de casos y revisión de la literatura

Carrasco¹,

Armas²,

Ríos³

et al. 2023

Rev peru ginecol obstet.

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Antecedentes. Los tumores cardiacos son frecuentes en la etapa fetal e infantil, siendoel rabdomioma el más prevalente en la vida fetal. Su diagnóstico se ha incrementadodebido al cribado por ecografía. Objetivo. Comunicar la primera serie peruana decasos con diagnóstico prenatal de tumores cardiacos fetales en un instituto maternoperinatal. Métodos. Estudio descriptivo de serie de casos. Se revisó la base de datosde todos los fetos con diagnóstico prenatal de tumores cardiacos a partir de enerode 2009 hasta enero de 2021 en el Instituto Nacional Materno Perinatal (INMP), Lima,Perú. Estos pacientes fueron seguidos por vía telefónica y en dos casos se les realizócontrol ecocardiográfico. Resultados. Se halló 6 casos de pacientes diagnosticadoscon tumores cardiacos en los últimos 12 años en el INMP, con reducción de tamañoen el seguimiento de todos los casos y la asociación con esclerosis tuberosa en lamitad de ellos. Conclusiones. Los rabdomiomas cardiacos representan los tumoresmás frecuentes en la vida fetal. La mayoría tienen en común la remisión parcialdel tumor. Sin embargo, la evolución clínica depende de la ubicación, tamaño y suasociación o no de esclerosis tuberosa. Por ello es recomendable un seguimientoestricto, especialmente del sistema nervioso central.

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Section: Casounclassified

Diagnóstico prenatal y seguimiento de tumores cardiacos fetales: serie de casos y revisión de la literatura

Carrasco¹,

Armas²,

Ríos³

et al. 2023

Rev peru ginecol obstet.

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“…Кардиальная рабдомиома (КР) -наиболее часто диагностируемая доброкачественная неонатальная опухоль [2]. Она встречается в 45-80 % среди выявленных случаев первичных опухолей плода [3]. Рабдомиома состоит из поперечно-полосатых мышечных волокон [1].…”

Section: Introductionunclassified

“…Сообщается, что опухоли сердца выявляются не ранее 15-й недели гестации [5]. Как правило, рабдомиомы бывают множественными, четко очерченными и некапсулированными, но 10 % могут возникать как единичные интрамуральные или внутриполостные образования [3].…”

Section: Introductionunclassified

“…Часто отмечается питтинг эмали постоянных зубов [7]. Это вызвано мутациями в гене TSC1 или TSC2, расположенных на хромосомах 9q34 и 16p13.3 соответственно [6], что приводит к активации белка m-TOR, который отвечает за аномальный пролиферативный клеточный ответ и активацию клеток [3]. Церебральные поражения обусловливают наиболее тяжелые клинические проявления заболевания, такие как судороги, умственная отсталость и поведенческие аномалии и другие [6].…”

Section: Introductionunclassified

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Asymptomatic course of rhabdomyoma of the heart

Chepurnenko,

Nasytko,

Shavkuta

2023

Kardiologiia

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The article describes a clinical case of cardiac rhabdomyoma first diagnosed in an 18-year-old girl. At the age of 12 months, the patient first developed generalized, prolonged convulsive seizure with the eyeballs rolling upward, tonic arm tension, and profuse salivation. From 1.5 to 2 years, according to her mother, the girl had frequent "freezing" with fixed stare. Anticonvulsant therapy was not administered. From the age of 2 years 8 months, the child began to experience episodes of drowsiness, lethargy, blurred speech, and repeated vomiting lasting up to 2 weeks. The patient was regularly treated at the neurological department. According to CT at the age of four, the patient showed characteristic alterations in the brain and was diagnosed with tuberous sclerosis, symptomatic generalized epilepsy, and psychoorganic syndrome. Only at the age of 18, cardiac ultrasound detected a 7x6 mm hyperechoic formation with endogenous growth buried in the myocardium of the left ventricular (LV) anterior-lateral wall and another one in the area of the LV lateral wall with endogenous growth of 2×4 mm. Magnetic resonance imaging (MRI) revealed multiple focal formations with clear, even contours in the area of the middle anterior septal segment (closely adjacent to papillary muscles) in the region of the apex, buried in the myocardium. The formation sizes were 9×7 mm, 8×13 mm, and 7.5×6 mm, respectively, and they moderately accumulated the contrast agent. Lesions with identical characteristics and a diameter up to 4.5 mm were visualized on the anterior wall in the region of the apex, in the depth of the myocardium. Due to the absence of arrhythmias and hemodynamic disorders, immunosuppressive therapy was not administered. Follow-up and dynamic MRI control of the heart were recommended. If signs of tumor growth are detected, consider immunosuppressive therapy with everolimus. The case is of interest for a long asymptomatic growth of rhabdomyoma. Generally, cardiac rhabdomyomas are diagnosed in the postnatal period and may be the earliest manifestation of tuberous sclerosis.

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“…Everolimus has been successfully used off-label in pediatric case reports of symptomatic CRs associated with TSC [ 7 , 8 , 9 ]. The optimal dosage for neonates is still unknown and is currently under debate [ 3 , 5 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 ].…”

Section: Introductionmentioning

confidence: 99%

Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review

et al. 2021

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Background: Cardiac rhabdomyomas (CRs) are the most common cardiac tumors in newborns. Approximately 80–90% of cases are associated with tuberous sclerosis complex (TSC). In selective cases, Everolimus has resulted in a remarkable tumoral regression effect in children with TS. The optimal dosage for neonates is still unknown. Case presentation: We describe the use of Everolimus in a neonate with multiple biventricular CRs, causing subaortic obstruction, in which a low-dose treatment (0.1 mg/die), in an effort to maintain serum trough levels of 3–7 ng/mL, was successfully used off-label, without adverse effects. Conclusions: We showed that a low-dose Everolimus regimen may be an effective and safe treatment for CR regression in TS neonates, when the minimum therapeutic range was maintained.

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Symptomatic improvement using everolimus in infants with cardiac rhabdomyoma

Cited by 19 publications

References 12 publications

Diagnóstico prenatal y seguimiento de tumores cardiacos fetales: serie de casos y revisión de la literatura

Diagnóstico prenatal y seguimiento de tumores cardiacos fetales: serie de casos y revisión de la literatura

Asymptomatic course of rhabdomyoma of the heart

Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review

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