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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Bibliographic Details
Published in:Journal of applied genetics 2020-12, Vol.61 (4), p.559-565
Main Authors: Szczałuba, Krzysztof, Makuła, Ewa, Piórecka-Makuła, Anna, Sicińska, Justyna, Rydzanicz, Małgorzata, Gasperowicz, Piotr, Płoski, Rafał, Werner, Bożena
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Biomedical and Life Sciences
Children
Embolism
Gorlin syndrome
Health aspects
Heart
Human Genetics
Human Genetics • Original Paper
Life Sciences
Literature reviews
Medical colleges
Medical genetics
Microbial Genetics and Genomics
Pediatric cardiology
Pediatrics
Plant Genetics and Genomics
Tumors
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Summary: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.
ISSN:1234-1983
2190-3883
DOI:10.1007/s13353-020-00582-4