Prenatal diagnosis of a cardiac tumor associated with tuberous sclerosis

Authors

  • Glenys Katiuska Silva González Departamento Provincial de Genética Médica. Las Tunas.
  • Alegna de la Caridad Ochoa Hidalgo Departamento Provincial de Genética Médica. Las Tunas.
  • Bertha de la Caridad Hernández Almaguer Departamento Provincial de Genética Médica. Las Tunas.

Keywords:

TUBEROUS SCLEROSIS, HEART DEFECTS, CONGENITAL, PRENATAL DIAGNOSIS

Abstract

Tuberous sclerosis is a dominant autosomal genetic disease with highly variable penetrance; 50 to 80 % it is associated with the presence of cardiac tumors. This is a case report of a prenatal diagnosis of a cardiac tumor by means of fetal ultrasound in a 32-year-old pregnant woman with 23,2 weeks of gestation and husband with a family history of tuberous sclerosis. The ultrasonographic findings are illustrated and discussed. The couple selects the induced abortion, which is legalized in the country, under the precepts to avoid the risk of cardiac malformation, incompatible with life. Fetal echocardiography helped the early diagnosis of the cardiac tumor, allowing appropriate genetic counseling, useful for diagnosis, management and follow-up of cases like this.

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Author Biographies

Glenys Katiuska Silva González, Departamento Provincial de Genética Médica. Las Tunas.

Especialista de Primer Grado en Genética Clínica. Investigador Agregado. Profesor Asistente.

Alegna de la Caridad Ochoa Hidalgo, Departamento Provincial de Genética Médica. Las Tunas.

Especialista de Primer Grado en Medicina General.

Bertha de la Caridad Hernández Almaguer, Departamento Provincial de Genética Médica. Las Tunas.

Especialista de Segundo Grado de Ginecobstetricia. Profesora Asistente.

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Published

2016-04-20

How to Cite

1.
Silva González GK, Ochoa Hidalgo A de la C, Hernández Almaguer B de la C. Prenatal diagnosis of a cardiac tumor associated with tuberous sclerosis. Rev. electron. Zoilo [Internet]. 2016 Apr. 20 [cited 2025 Sep. 17];41(5). Available from: https://revzoilomarinello.sld.cu/index.php/zmv/article/view/765

Issue

Vol. 41 No. 5 (2016): May (Genetics)

Section

Case reports

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