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Early-onset pheochromocytoma with a somatic EPAS1 mutation in an 8-year-old boy with unrepaired pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries

Published online by Cambridge University Press:  15 May 2026

Haruna Egashira ,
Sho Hosaka  and
Yoshihiro Nozaki Open the ORCID record for Yoshihiro Nozaki [Opens in a new window]
Haruna Egashira
Affiliation:
Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan
Sho Hosaka
Affiliation:
Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Japan
Yoshihiro Nozaki*
Affiliation:
Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Japan
*
Corresponding author: Yoshihiro Nozaki; Email: nozaki.yoshihiro.wj@alumni.tsukuba.ac.jp
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Abstract

We report the case of an 8-year-old boy with unrepaired cyanotic CHD who developed pheochromocytoma and presented with hypertensive heart failure. Imaging revealed a tumour in the right adrenal gland. A genetic analysis identified a somatic EPAS1 mutation. This case highlights the potential for early pheochromocytoma development in patients with unrepaired CHD and severe cyanosis. This case provides a hypothesis-generating observation suggesting that chronic hypoxia may act synergistically with a pseudohypoxia mutation, potentially leading to an earlier-than-expected presentation of pheochromocytoma.

Keywords

congenital heart diseaseEPAS1pheochromocytoma

Information

Type
Case Report
Information
Cardiology in the Young , Volume 36 , Issue 4 , April 2026 , pp. 876 - 878
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Copyright
© The Author(s), 2026. Published by Cambridge University Press

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References

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