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Fetal rhabdomyoma: a prenatal echocardiographic marker of tuberous sclerosis.
Am J Perinatol. 1992 Mar; 9(2):111-4.AJ

Abstract

Little is known about the intrauterine course of tuberous sclerosis (TS) and the fetal age at which specific abnormalities may be detected. A case of neonatal TS diagnosed prenatally by the echocardiographic finding of a cardiac rhabdomyoma is presented. Literature review revealed that 50% of prenatally diagnosed rhabdomyomas are asymptomatic. Although cardiac rhabdomyomas tend to regress during the first year of life, they may for months be the only manifestation of TS. The number of new mutations may have been overestimated. The combination of computed tomography, echocardiography, and renal sonograms allows for the detection of other family members with latent TS. The incidence of TS in cases of cardiac rhabdomyomas is probably higher than previously reported.

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Authors+Show Affiliations

Giacoia GP
Department of Pediatrics, University of Oklahoma College of Medicine-Tulsa.

MeSH

AdultEchocardiographyFemaleFetal DiseasesHeart AtriaHeart NeoplasmsHeart VentriclesHumansPregnancyRhabdomyomaTuberous SclerosisUltrasonography, Prenatal

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

1590864

Citation

Giacoia, G P.. "Fetal Rhabdomyoma: a Prenatal Echocardiographic Marker of Tuberous Sclerosis." American Journal of Perinatology, vol. 9, no. 2, 1992, pp. 111-4.
Giacoia GP. Fetal rhabdomyoma: a prenatal echocardiographic marker of tuberous sclerosis. Am J Perinatol. 1992;9(2):111-4.
Giacoia, G. P. (1992). Fetal rhabdomyoma: a prenatal echocardiographic marker of tuberous sclerosis. American Journal of Perinatology, 9(2), 111-4.
Giacoia GP. Fetal Rhabdomyoma: a Prenatal Echocardiographic Marker of Tuberous Sclerosis. Am J Perinatol. 1992;9(2):111-4. PubMed PMID: 1590864.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fetal rhabdomyoma: a prenatal echocardiographic marker of tuberous sclerosis. A1 - Giacoia,G P, PY - 1992/3/1/pubmed PY - 1992/3/1/medline PY - 1992/3/1/entrez SP - 111 EP - 4 JF - American journal of perinatology JO - Am J Perinatol VL - 9 IS - 2 N2 - Little is known about the intrauterine course of tuberous sclerosis (TS) and the fetal age at which specific abnormalities may be detected. A case of neonatal TS diagnosed prenatally by the echocardiographic finding of a cardiac rhabdomyoma is presented. Literature review revealed that 50% of prenatally diagnosed rhabdomyomas are asymptomatic. Although cardiac rhabdomyomas tend to regress during the first year of life, they may for months be the only manifestation of TS. The number of new mutations may have been overestimated. The combination of computed tomography, echocardiography, and renal sonograms allows for the detection of other family members with latent TS. The incidence of TS in cases of cardiac rhabdomyomas is probably higher than previously reported. SN - 0735-1631 UR - https://www.unboundmedicine.com/medline/citation/1590864/Fetal_rhabdomyoma:_a_prenatal_echocardiographic_marker_of_tuberous_sclerosis_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2007-994681 DB - PRIME DP - Unbound Medicine ER -