title: Pheochromocytoma complicated by cyanotic congenital heart disease: a case report.
abstract: Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of (123)I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma.
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan; Department of Pediatrics, Japan Community Health Care Organization, Osaka Hospital, Osaka, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Namba
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Takuo
authors.initials: T
authors.lastname: Kubota
authors.affiliation: Clinical Research Institute, National Hospital Organization, Kyoto Medical Center, Kyoto, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Usui
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Taichi
authors.initials: T
authors.lastname: Kitaoka
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Fujiwara
authors.affiliation: Department of Pathology, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Hori
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Shigetoyo
authors.initials: S
authors.lastname: Kogaki
authors.affiliation: Department of Pediatric Surgery, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Takaharu
authors.initials: T
authors.lastname: Oue
authors.affiliation: Department of Pathology, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Morii
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
keywords: cyanotic congenital heart disease; hypoxia; hypoxia-inducible factor; pheochromocytoma