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

Haruna Egashira; Sho Hosaka; Yoshihiro Nozaki

doi:10.1017/S1047951126113237

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

Cardiol Young. 2026 May 15:1-3. doi: 10.1017/S1047951126113237. Online ahead of print.

Authors

Haruna Egashira¹, Sho Hosaka², Yoshihiro Nozaki²

Affiliations

¹ Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
² Department of Child Health, Institute of Medicine, University of Tsukubahttps://ror.org/02956yf07, Tsukuba, Japan.

PMID: 42136564
DOI: 10.1017/S1047951126113237

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: EPAS1; congenital heart disease; pheochromocytoma.