What question did this study set out to answer?

To explore the connection between unrepaired congenital heart disease and the early onset of pheochromocytoma in a child.

May 17, 2026

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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

Key Points

To explore the connection between unrepaired congenital heart disease and the early onset of pheochromocytoma in a child.
Case report of an 8-year-old boy with unrepaired cyanotic congenital heart disease presenting with pheochromocytoma.
Imaging conducted to identify adrenal gland tumor.
Genetic analysis performed to detect mutations in EPAS1.
Tumor identified in the right adrenal gland of the boy.
Somatic EPAS1 mutation confirmed through genetic analysis.
Observation suggests chronic hypoxia may contribute to earlier pheochromocytoma development.

Abstract

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.

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Cite This Study

Egashira et al. (Fri,) studied this question.

synapsesocial.com/papers/6a095bef7880e6d24efe1dd3 https://doi.org/https://doi.org/10.1017/s1047951126113237

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