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Case Reports
. 2019 Oct;39(11):998-1004.
doi: 10.1002/pd.5521. Epub 2019 Jul 23.

Clinical and genetic description of patients with prenatally identified cardiac tumors

Luisa F Mariscal-Mendizábal  1 , Rosalba Sevilla-Montoya  1 , Alfonso J Martínez-García  2 , Carmen Alaez-Verson  3 , Irma E Monroy-Muñoz  1 , Javier Pérez-Durán  1 , Jorge A Cerón-Albarrán  1 , Karol Carrillo-Sánchez  3 , Carolina Molina-Garay  3 , Luis L Flores-Lagunes  3 , Marco Jimenez-Olivares  3 , Mónica Aguinaga-Ríos  1
Affiliations
Case Reports

Clinical and genetic description of patients with prenatally identified cardiac tumors

Luisa F Mariscal-Mendizábal et al. Prenat Diagn. 2019 Oct.

Abstract

Objective: Rhabdomyomas are the most common type of prenatal cardiac tumors. When isolated, 50% to 70% are related to the tuberous sclerosis complex (TSC). The aim of this study was to reinforce the importance of additional clinical data in patients with prenatal heart tumors.

Methods: From 2010 to 2017, 10 prenatally detected cardiac tumors were referred to the Genetics Department, and a complete family history was taken. Postnatal echocardiographic and full clinical evaluation were completed. Next generation sequencing (NGS) of the TSC1 and TSC2 genes was performed.

Results: The 10 cases were postnatally confirmed as rhabdomyomas. Four de novo and four family cases were detected, and only one patient was previously aware of the TSC diagnosis. Molecular analysis by NGS was performed in four patients with three TSC2 mutations, two of which were previously reported and one not.

Discussion: Prenatal cardiac tumors are associated with TSC in 60% of cases. Prenatal diagnosis of cardiac tumors permits a further analysis of family members using the fetus as a clue for familial disease diagnosis.

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References

REFERENCES

    1. DeVore GR, Hakim S, Kleinman CS, Hobbins JC. The in utero diagnosis of an interventricular septal cardiac rhabdomyoma by means of real-time-directes, M-mode echocardiography. Am J Obstet Gynecol. 1982;143(8):967-969.
    1. Chitayat D, Mcgillivray BC, Diamant S, Wittmann BK, Sandor GGS. Role of prenatal detection of cardiac sclerosis-report of two cases. Prenat Diagn. 1988;8(8):577-584.
    1. Potondi A. Congenital Rhabdomyoma of the heart and intrauterine digitalis poisoning. J Forensic Sci. 1966;11(1):81-88.
    1. Soltan MH, Keohane C. Hydrops fetalis due to congenital cardiac rhabdomyoma: case report. BJOG. 1981;88(7):771-773.
    1. Bejiqi R, Retkoceri R, Bejiqi H. Prenatally diagnosis and outcome of fetuses with cardiac rhabdomyoma-single centre experience. Maced J Med Sci. 2017;5(2):193-196.

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