Association between cardiac tumors and tuberous sclerosis in the fetus and neonate

Tworetzky, Wayne; McElhinney, Doff B.; Margossian, Rene; Moon-Grady, Anita J.; Sallee, Denver; Goldmuntz, Elizabeth; Velde, Mary E. van der; Silverman, Norman H.; Allan, L D

doi:10.1016/s0002-9149(03)00677-5

Cited by 156 publications

(122 citation statements)

References 16 publications

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“…Multiple foetal / neonatal cardiac rhabdomyomas were significantly associated with TSC; they can be found in up to 95 % cases of TSC (ref. 8,9 ). In contrast, the occurrence of single intracardiac rhabdomyoma is not overrepresented in persons with TSC compared to non TSC patients 2 and single giant progressing rhabdomyoma is very rare in persons with TSC.…”

Section: Discussionmentioning

confidence: 99%

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

Godava¹,

Filipová²,

Dubrava³

et al. 2017

BIOMED PAP

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Background. Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC. Case report. This report presents family without obvious history of TSC with occurrence of giant mediastinal rhabdomyoma affecting the haemodynamics in male foetus, without other TSC symptoms. Girl from the next gravidity had prenatally detected multiple rhabdomyomas and small subcortical tuber of brain detected after birth. DNA analysis found novel c.4861A>T TSC2 variant and large deletion in TSC2 in tumour tissue from male foetus. The novel TSC2 variant was also present in the girl and her healthy father, in silico analysis suggested its functional effect on TSC2. Brain MRI of the father detected mild TSC specific abnormality. Conclusion. We suggest the novel TSC2 mutation is a cause of mild TSC in this family and has reduced expression. The clinical and molecular findings in this family also emphasize that TSC diagnosis should be also evaluated in case of single giant foetal cardiac rhabdomyoma.

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Section: Discussionmentioning

confidence: 99%

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

Godava¹,

Filipová²,

Dubrava³

et al. 2017

BIOMED PAP

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“…Debe hacerse notar que pueden no documentarse lesiones en la RNM y existir complicaciones neurológicas clínicas, de manera que una RNM normal no predice el pronóstico neurológico del neonato. El desarrollo sicomotor de estos niños puede ser variable aunque es común el retraso sicomotor y convulsiones (12,13). Es frecuente encontrar familiares afectados asintomáticos (que no han sido diagnosticados) a partir del estudio de un feto con hallazgo de rabdomioma (12).…”

Section: El Crecimientounclassified

“…Es frecuente encontrar familiares afectados asintomáticos (que no han sido diagnosticados) a partir del estudio de un feto con hallazgo de rabdomioma (12). La consejería a los padres es difícil, pero es importante decir que cuando existen numerosos rabdomiomas debe considerarse a efectos pronósticos que el feto es portador de una esclerosis tuberosa, por otra parte, si el feto tiene sólo un rabdomioma las posibilidades son menores, recordando que pueden pasar desapercibidas en el examen prenatal masas muy pequeñas, las cuales pueden no advertirse siendo necesario reevaluación post natal (13). Por otro lado en escenario de un feto con historia familiar de esclerososis tuberosa la ecocardiografía normal no excluye el diagnóstico, se estima que los fetos con esclerosis tuberosa presentan rabdomiomas en un 40 -60 %.…”

Section: El Crecimientounclassified

Diagnóstico prenatal de rabdomioma fetal asociado a esclerosis tuberosa. A propósito de un caso.

López

2017

Rev. chil. obstet. ginecol.

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RESUMENLos rabdomiomas son los tumores benignos cardíacos más frecuentes encontrados en vida fetal y postnatal, asociándose frecuentemente a esclerosis tuberosa. A propósito de un caso manejado en nuestra maternidad el año 2014 se revisó la literatura existente sobre su diagnóstico, manejo, implicancias pronósticas. Se trata de una embarazada de 23 años que fue referida a las 25 semanas a nuestro servicio, el estudio ecográfico revela tres imágenes cardiacas concordantes con rabdomiomas en las paredes ventriculares y el septum. No se detectan otras anormalidades y se controla en forma seriada con ultrasonido. Se realiza a las 33 semanas resonancia nuclear magnética fetal con el objetivo de evidenciar signos de esclerosis tuberosa los cuales se evidencian en el examen y se confirman en exámenes postnatales. Se comenta el diagnóstico diferencial con otros neoplasias benignas cardiacas como teratomas, fibromas y hemangiomas. Las posibles complicaciones de los rabdomiomas dependerán de su ubicación y tamaño, produciendo alteraciones en flujo o bien menos frecuentemente arritmias. La asociación más importante de esta patología es con esclerosis tuberosa de manera que se debe realizar una cuidadosa anamnesis familiar, estudios de imágenes que deben abarcar el SNC, corazón y riñones. Finalmente en ese contexto realizar la mejor consejería a los padres. PALABRAS CLAVE: Rabdomioma, esclerosis tuberosa. ABSTRACTRhabdomyomas are the most common benign cardiac tumors found in fetal and postnatal life, frequently being associated with tuberous sclerosis. In relation to a case handled in our maternity unit in 2014, existing literature on cardiac rhabdomyomas diagnosis, management and prognostic implications, was revised. The case concerned a 25 week pregnant 23 year old patient, who was referred to our facility; ultrasound examination reveals three cardiac images consistent with rhabdomyomas in the ventricular walls and the septum. No other abnormalities are detected and the patient is monitored with a series of ultrasound. At 33 weeks a fetal magnetic resonance imaging is performed in order to show signs of tuberous sclerosis which are noted in the examination and confirmed in post natal tests. Differential diagnosis with other benign cardiac neoplasms such as teratomas, fibromas and hemangiomas is discussed. Possible complications of the rhabdomyomas will depend on its location and size, producing changes in flow or less frequent arrhythmias.

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“…Cardiac rhabdomyomas are sometimes found by chance at routine antenatal scanning and are associated with a substantial risk of TS, particularly if multiple lesions are present. 8 Angiomyolipomas (AMLs) are the most common renal manifestation of TS 1 developing during later childhood and adolescence. As the name implies, they are composed of blood vessels, smooth muscle and adipose tissue.…”

Section: In Briefmentioning

confidence: 99%