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Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl

We report the case of an 11-year-old girl who complained about severe asthenia, orthostatic dizziness and abdominal pain for 4 weeks. The primary investigation concluded on febrile urinary tract infection treated by antibiotics. Symptom persistence prompted cardiological and endocrinological investi...

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Autores principales: D’Angelo, Lisa, Parent, Anne-Simone, Derwael, Céline, Hustinx, Roland, Seghaye, Marie-Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10056940/
https://www.ncbi.nlm.nih.gov/pubmed/36976726
http://dx.doi.org/10.3390/pediatric15010019
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author D’Angelo, Lisa
Parent, Anne-Simone
Derwael, Céline
Hustinx, Roland
Seghaye, Marie-Christine
author_facet D’Angelo, Lisa
Parent, Anne-Simone
Derwael, Céline
Hustinx, Roland
Seghaye, Marie-Christine
author_sort D’Angelo, Lisa
collection PubMed
description We report the case of an 11-year-old girl who complained about severe asthenia, orthostatic dizziness and abdominal pain for 4 weeks. The primary investigation concluded on febrile urinary tract infection treated by antibiotics. Symptom persistence prompted cardiological and endocrinological investigations. A fluctuation in blood pressure, long QT interval, dilation of the aortic root and left ventricular hypertrophy were documented. Elevated levels of urinary catecholamines together with the presence of a right-sided adrenal mass shown via abdominal ultrasound and magnetic resonance imaging were highly suggestive of a pheochromocytoma. This was confirmed by through iodine-123-metaiodobenzylguathdine ([(123)I]-mIBG) scintigraphy. Genetic analysis allowed for the exclusion of pathogenic mutations in genes implicated in hereditary paragangliomas and pheochromocytomas but showed a rare somatic mutation in exon 3 of the von Hippel-Lindau gene. The patient was treated with a β-blocker and calcium channel antagonist and underwent laparoscopic right-sided adrenalectomy. Cardiac manifestations resolved soon after surgery indicating that they were secondary to the pheochromocytoma. After 5 years of follow-up, the patient remains asymptomatic without any sign of tumor recurrence. The presence of aortic root dilation, a prolonged QT-interval and left ventricular hypertrophy may be early cardiac manifestations of a pheochromocytoma in a child and should prompt this diagnosis to be evoked.
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spelling pubmed-100569402023-03-30 Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl D’Angelo, Lisa Parent, Anne-Simone Derwael, Céline Hustinx, Roland Seghaye, Marie-Christine Pediatr Rep Case Report We report the case of an 11-year-old girl who complained about severe asthenia, orthostatic dizziness and abdominal pain for 4 weeks. The primary investigation concluded on febrile urinary tract infection treated by antibiotics. Symptom persistence prompted cardiological and endocrinological investigations. A fluctuation in blood pressure, long QT interval, dilation of the aortic root and left ventricular hypertrophy were documented. Elevated levels of urinary catecholamines together with the presence of a right-sided adrenal mass shown via abdominal ultrasound and magnetic resonance imaging were highly suggestive of a pheochromocytoma. This was confirmed by through iodine-123-metaiodobenzylguathdine ([(123)I]-mIBG) scintigraphy. Genetic analysis allowed for the exclusion of pathogenic mutations in genes implicated in hereditary paragangliomas and pheochromocytomas but showed a rare somatic mutation in exon 3 of the von Hippel-Lindau gene. The patient was treated with a β-blocker and calcium channel antagonist and underwent laparoscopic right-sided adrenalectomy. Cardiac manifestations resolved soon after surgery indicating that they were secondary to the pheochromocytoma. After 5 years of follow-up, the patient remains asymptomatic without any sign of tumor recurrence. The presence of aortic root dilation, a prolonged QT-interval and left ventricular hypertrophy may be early cardiac manifestations of a pheochromocytoma in a child and should prompt this diagnosis to be evoked. MDPI 2023-03-17 /pmc/articles/PMC10056940/ /pubmed/36976726 http://dx.doi.org/10.3390/pediatric15010019 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
D’Angelo, Lisa
Parent, Anne-Simone
Derwael, Céline
Hustinx, Roland
Seghaye, Marie-Christine
Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl
title Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl
title_full Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl
title_fullStr Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl
title_full_unstemmed Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl
title_short Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl
title_sort unusual cardiac manifestations of a pheochromocytoma in a girl
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10056940/
https://www.ncbi.nlm.nih.gov/pubmed/36976726
http://dx.doi.org/10.3390/pediatric15010019
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