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Congenital Cyanotic Heart Disease and the Association with Pheochromocytomas and Paragangliomas.
- Source :
-
Current cardiology reports [Curr Cardiol Rep] 2023 Nov; Vol. 25 (11), pp. 1451-1460. Date of Electronic Publication: 2023 Oct 17. - Publication Year :
- 2023
-
Abstract
- Purpose of Review: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that commonly produce excess catecholamines causing significant morbidity and mortality. Patients with cyanotic congenital heart disease (CCHD) develop PPGLs at a higher frequency than the general population. This review will summarize recent research in the association of PPGL and CCHD.<br />Recent Findings: Advances in molecular genetics have provided new insights into a variety of germline mutations and somatic mutations related to PPGLs. In the CCHD population, mutations can occur in the hypoxia signaling pathway with gain-of-function somatic mutations in EPAS1, which prevent degradation of hypoxia-inducible factor-2 alpha. These mutations are implicated in oncogenesis. PPGLs associated with CCHD develop as early as age 15 years and have predominantly noradrenergic secretion. Surgical removal is considered the first line of therapy, although belzutifan, a HIF-2α inhibitor, is currently being tested as a potential therapy. Early screening with plasma metanephrines may assist in identifying PPGLs in patients with CCHD.<br /> (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
- Subjects :
- Humans
Adolescent
Hypoxia
Pheochromocytoma complications
Pheochromocytoma genetics
Pheochromocytoma diagnosis
Paraganglioma complications
Paraganglioma genetics
Paraganglioma diagnosis
Adrenal Gland Neoplasms complications
Adrenal Gland Neoplasms genetics
Adrenal Gland Neoplasms diagnosis
Heart Defects, Congenital
Subjects
Details
- Language :
- English
- ISSN :
- 1534-3170
- Volume :
- 25
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Current cardiology reports
- Publication Type :
- Academic Journal
- Accession number :
- 37847359
- Full Text :
- https://doi.org/10.1007/s11886-023-01974-8