Cardiac rhabdomyoma: an antenatal illustration

Shukla, Anil Kumar; Reddy, Ajit Kumar; Latha, A; Jayamohan, Annitha Elavarasi

doi:10.1136/bcr-2014-209256

Cited by 6 publications

(3 citation statements)

References 3 publications

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“…Involution may be related to an inability of tumors to divide as the cardiac chambers grow, and this consideration may indicate that some yet incompletely identified factors involved in homeostatic regulation of cardiac biology could lead to tumor masses regression 13 .…”

Section: Discussionmentioning

confidence: 99%

Multiple cardiac rhabdomyomas, prenatal diagnosis. Case report

Carrillo-Lima¹,

Pacheco-López²,

Castro-Santiago³

et al. 2022

ACME

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Cardiac tumors are rare in children, having a maximum reported incidence of 0.027% in prenatal diagnosis, increasing the incidence in necropsy diagnosis; rhabdomyomas are the most frequent cardiac tumors; some cases are associated with tuberous sclerosis. We present the report of two cases in our unit that were diagnosed prenatal with follow-up after birth and one of them was associated with tuberous sclerosis. Both cases were admitted in a third level center, uncomplicated, without requiring surgical treatment, and could be discharged.

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Section: Discussionmentioning

confidence: 99%

Multiple cardiac rhabdomyomas, prenatal diagnosis. Case report

Carrillo-Lima¹,

Pacheco-López²,

Castro-Santiago³

et al. 2022

ACME

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“…La involución puede estar relacionada con la incapacidad de los tumores para dividirse mientras crecen las cámaras cardiacas y esta consideración puede indicar que algunos factores aún incompletamente identificados, involucrados en la regulación homeostática de la biología cardiaca, podrían conducir a la regresión de las masas 13 .…”

Section: Discussionunclassified

Rabdomiomas cardiacos múltiples, diagnóstico prenatal. Reporte de casos

Carrillo-Lima¹,

Pacheco-López²,

Castro-Santiago³

et al. 2021

ACM

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Los tumores cardiacos son raros en la población infantil, teniendo una incidencia máxima reportada del 0.027% en el diagnóstico prenatal, incrementándose la incidencia en el diagnóstico por necropsia. Los rabdomiomas son los tumores cardiacos más frecuentes, algunos casos pueden asociarse con esclerosis tuberosa. Presentamos el reporte de dos casos en nuestra unidad a los cuales se les realizó diagnóstico prenatal con seguimiento posterior al nacimiento y asociándose uno de ellos a esclerosis tuberosa. Ambos casos recibieron atención en un centro de tercer nivel, sin complicaciones, sin requerir tratamiento quirúrgico, pudiendo ser egresados.

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“…5 Multiple cardiac rhabdomyo-mas identified by fetal ultrasound are highly supportive of a prenatal diagnosis of TSC. 6,7 However monozygotic twins with TSC are rarely reported prenatally. Here, we report two cases of monochorionic diamniotic twins diagnosed prenatally as having TSC and discordant fetal phenotypes.…”

Section: Introductionmentioning

confidence: 99%

Prenatal Phenotypical Discrepancy in Monozygotic Twins with Tuberous Sclerosis Complex

Xiong

Chen

et al. 2022

Maternal Fetal Med

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Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder characterized by the development of hamartomas in the brain, heart, skin, kidney, lung, retina, and so on. One fetus from family 1 had a cardiac rhabdomyoma from 21 weeks and 6 days of gestational age, and developed multiple rhabdomyomas and tubers in the brain at 23 weeks and 5 days. The counter monozygotic twin fetus remained negative throughout the pregnancy according to imaging examination. A nonsense mutation in TSC2 (c.4762C>T, p.Gln1588*) was identified in both twins, but not in the mother. Family 2 was one pair of twin fetuses caused by a microdeletion of exon 30 within TSC2 inherited from their apparently asymptomatic mother with mosaic status. The larger fetus was identified as having the first cardiac rhabdomyoma from 17 weeks and 4 days of gestational age. The smaller fetus developed multiple rhabdomyomas until 25 weeks and 6 days of gestational age. Both families terminated the pregnancy. Here, we provide intrauterine examples of clinical variability among monozygotic twins suffering from TSC.

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Cardiac rhabdomyoma: an antenatal illustration

Cited by 6 publications

References 3 publications

Multiple cardiac rhabdomyomas, prenatal diagnosis. Case report

Multiple cardiac rhabdomyomas, prenatal diagnosis. Case report

Rabdomiomas cardiacos múltiples, diagnóstico prenatal. Reporte de casos

Prenatal Phenotypical Discrepancy in Monozygotic Twins with Tuberous Sclerosis Complex

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