Cargando…

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...

Descripción completa

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
_version_ 1783607753956130816
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
work_keys_str_mv AT szczałubakrzysztof intracardiactumorasararemanifestationofgeneticsyndromespresentationofafamilywithgorlinsyndromeandaliteraturereview
AT makułaewa intracardiactumorasararemanifestationofgeneticsyndromespresentationofafamilywithgorlinsyndromeandaliteraturereview
AT pioreckamakułaanna intracardiactumorasararemanifestationofgeneticsyndromespresentationofafamilywithgorlinsyndromeandaliteraturereview
AT sicinskajustyna intracardiactumorasararemanifestationofgeneticsyndromespresentationofafamilywithgorlinsyndromeandaliteraturereview
AT rydzaniczmałgorzata intracardiactumorasararemanifestationofgeneticsyndromespresentationofafamilywithgorlinsyndromeandaliteraturereview
AT gasperowiczpiotr intracardiactumorasararemanifestationofgeneticsyndromespresentationofafamilywithgorlinsyndromeandaliteraturereview
AT płoskirafał intracardiactumorasararemanifestationofgeneticsyndromespresentationofafamilywithgorlinsyndromeandaliteraturereview
AT wernerbozena intracardiactumorasararemanifestationofgeneticsyndromespresentationofafamilywithgorlinsyndromeandaliteraturereview