Clinical and genetic description of patients with prenatally identified cardiac tumors.
Prenat Diagn
; 39(11): 998-1004, 2019 10.
Article
en En
| MEDLINE
| ID: mdl-31291687
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Rabdomioma
/
Proteína 1 del Complejo de la Esclerosis Tuberosa
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Proteína 2 del Complejo de la Esclerosis Tuberosa
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Neoplasias Cardíacas
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
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Humans
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Male
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
2019
Tipo del documento:
Article
País de afiliación:
México