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Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review

Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as wel...

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Detalles Bibliográficos
Autores principales: Szczałuba, Krzysztof, Makuła, Ewa, Piórecka-Makuła, Anna, Sicińska, Justyna, Rydzanicz, Małgorzata, Gasperowicz, Piotr, Płoski, Rafał, Werner, Bożena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652740/
https://www.ncbi.nlm.nih.gov/pubmed/32964316
http://dx.doi.org/10.1007/s13353-020-00582-4
Descripción
Sumario:Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac tumors in clinical practice.