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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2020
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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 |
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author | Szczałuba, Krzysztof Makuła, Ewa Piórecka-Makuła, Anna Sicińska, Justyna Rydzanicz, Małgorzata Gasperowicz, Piotr Płoski, Rafał Werner, Bożena |
author_facet | Szczałuba, Krzysztof Makuła, Ewa Piórecka-Makuła, Anna Sicińska, Justyna Rydzanicz, Małgorzata Gasperowicz, Piotr Płoski, Rafał Werner, Bożena |
author_sort | Szczałuba, Krzysztof |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7652740 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-76527402020-11-12 Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review Szczałuba, Krzysztof Makuła, Ewa Piórecka-Makuła, Anna Sicińska, Justyna Rydzanicz, Małgorzata Gasperowicz, Piotr Płoski, Rafał Werner, Bożena J Appl Genet Human Genetics • Original Paper 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. Springer Berlin Heidelberg 2020-09-22 2020 /pmc/articles/PMC7652740/ /pubmed/32964316 http://dx.doi.org/10.1007/s13353-020-00582-4 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Human Genetics • Original Paper Szczałuba, Krzysztof Makuła, Ewa Piórecka-Makuła, Anna Sicińska, Justyna Rydzanicz, Małgorzata Gasperowicz, Piotr Płoski, Rafał Werner, Bożena Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review |
title | Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review |
title_full | Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review |
title_fullStr | Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review |
title_full_unstemmed | Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review |
title_short | Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review |
title_sort | intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with gorlin syndrome and a literature review |
topic | Human Genetics • Original Paper |
url | 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 |
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