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Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.
Prenat Diagn. 1999 Jul; 19(7):610-3.PD

Abstract

A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21+2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.

Authors+Show Affiliations

Division of Prenatal Medicine, Department of Obstetrics and Gynaecology, Medical University of Lübeck, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

10419607

Citation

Krapp, M, et al. "Tuberous Sclerosis With Intracardiac Rhabdomyoma in a Fetus With Trisomy 21: Case Report and Review of Literature." Prenatal Diagnosis, vol. 19, no. 7, 1999, pp. 610-3.
Krapp M, Baschat AA, Gembruch U, et al. Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature. Prenat Diagn. 1999;19(7):610-3.
Krapp, M., Baschat, A. A., Gembruch, U., Gloeckner, K., Schwinger, E., & Reusche, E. (1999). Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature. Prenatal Diagnosis, 19(7), 610-3.
Krapp M, et al. Tuberous Sclerosis With Intracardiac Rhabdomyoma in a Fetus With Trisomy 21: Case Report and Review of Literature. Prenat Diagn. 1999;19(7):610-3. PubMed PMID: 10419607.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature. AU - Krapp,M, AU - Baschat,A A, AU - Gembruch,U, AU - Gloeckner,K, AU - Schwinger,E, AU - Reusche,E, PY - 1999/7/27/pubmed PY - 1999/7/27/medline PY - 1999/7/27/entrez SP - 610 EP - 3 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 19 IS - 7 N2 - A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21+2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/10419607/Tuberous_sclerosis_with_intracardiac_rhabdomyoma_in_a_fetus_with_trisomy_21:_case_report_and_review_of_literature_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=1999&volume=19&issue=7&spage=610 DB - PRIME DP - Unbound Medicine ER -