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Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease

Catecholamine-secreting tumors are rare among the pediatric population but are increasingly being reported in children with sustained hypoxia secondary to cyanotic congenital heart disease (CCHD). With this review, we report the clinical characteristics of these tumors in children with CCHD. The art...

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Detalles Bibliográficos
Autores principales: Agarwal, Swashti, Jindal, Ishita, Balazs, Andrea, Paul, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821216/
https://www.ncbi.nlm.nih.gov/pubmed/31687640
http://dx.doi.org/10.1210/js.2019-00226
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author Agarwal, Swashti
Jindal, Ishita
Balazs, Andrea
Paul, David
author_facet Agarwal, Swashti
Jindal, Ishita
Balazs, Andrea
Paul, David
author_sort Agarwal, Swashti
collection PubMed
description Catecholamine-secreting tumors are rare among the pediatric population but are increasingly being reported in children with sustained hypoxia secondary to cyanotic congenital heart disease (CCHD). With this review, we report the clinical characteristics of these tumors in children with CCHD. The articles included in the present review were identified using PubMed through February 2019. A manual search of the references retrieved from relevant articles was also performed. Pheochromocytomas and paragangliomas (PPGL) in children are commonly associated with high-risk germline or somatic mutations. There is evidently a higher risk of tumorigenesis in children with CCHD as compared with the general pediatric population, even in the absence of susceptible gene mutations. This is due to molecular mechanisms involving the aberrant activation of hypoxia-response elements, likely secondary to sustained hypoxemia, resulting in tumorigenesis. Due to overlapping symptoms with CCHD, the diagnosis of PPGL may be delayed or missed in these patients. We studied all previously reported PPGL cases in children with CCHD and reviewed phenotypic and biochemical features to assess for contributing factors in tumorigenesis. Larger studies are needed to help determine other potential predisposing factors and to establish screening guidelines in this high-risk population. A delay in diagnosis of the PPGL tumors can lead to exacerbation of cardiac failure, and therefore early diagnosis and intervention may provide better outcomes in these patients, necessitating the need for regular surveillance. We recommend routine biochemical screening in patients with sustained hypoxia secondary to CCHD.
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spelling pubmed-68212162019-11-04 Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease Agarwal, Swashti Jindal, Ishita Balazs, Andrea Paul, David J Endocr Soc Mini-Review Catecholamine-secreting tumors are rare among the pediatric population but are increasingly being reported in children with sustained hypoxia secondary to cyanotic congenital heart disease (CCHD). With this review, we report the clinical characteristics of these tumors in children with CCHD. The articles included in the present review were identified using PubMed through February 2019. A manual search of the references retrieved from relevant articles was also performed. Pheochromocytomas and paragangliomas (PPGL) in children are commonly associated with high-risk germline or somatic mutations. There is evidently a higher risk of tumorigenesis in children with CCHD as compared with the general pediatric population, even in the absence of susceptible gene mutations. This is due to molecular mechanisms involving the aberrant activation of hypoxia-response elements, likely secondary to sustained hypoxemia, resulting in tumorigenesis. Due to overlapping symptoms with CCHD, the diagnosis of PPGL may be delayed or missed in these patients. We studied all previously reported PPGL cases in children with CCHD and reviewed phenotypic and biochemical features to assess for contributing factors in tumorigenesis. Larger studies are needed to help determine other potential predisposing factors and to establish screening guidelines in this high-risk population. A delay in diagnosis of the PPGL tumors can lead to exacerbation of cardiac failure, and therefore early diagnosis and intervention may provide better outcomes in these patients, necessitating the need for regular surveillance. We recommend routine biochemical screening in patients with sustained hypoxia secondary to CCHD. Endocrine Society 2019-09-05 /pmc/articles/PMC6821216/ /pubmed/31687640 http://dx.doi.org/10.1210/js.2019-00226 Text en Copyright © 2019 Endocrine Society https://creativecommons.org/licenses/by-nc-nd/4.0/ This article has been published under the terms of the Creative Commons Attribution Non-Commercial, No-Derivatives License (CC BY-NC-ND; https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Mini-Review
Agarwal, Swashti
Jindal, Ishita
Balazs, Andrea
Paul, David
Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease
title Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease
title_full Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease
title_fullStr Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease
title_full_unstemmed Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease
title_short Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease
title_sort catecholamine-secreting tumors in pediatric patients with cyanotic congenital heart disease
topic Mini-Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821216/
https://www.ncbi.nlm.nih.gov/pubmed/31687640
http://dx.doi.org/10.1210/js.2019-00226
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