Paragangliomas and syringomyelia in Tetralogy of Fallot-A case report and literature review.

22q11DS PA/VSD/MAPCAs carotid body tumor cyanotic congenital heart disease succinate dehydrogenase complex subunit D mutation syringomyelia

Journal

Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385

Informations de publication

Date de publication:
Oct 2024
Historique:
received: 27 04 2024
revised: 02 09 2024
accepted: 06 09 2024
medline: 17 10 2024
pubmed: 17 10 2024
entrez: 17 10 2024
Statut: epublish

Résumé

Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries, paragangliomas, and syringomyelia are uncommon diseases. Furthermore, in the absence of any genetic link and with less than five reported adult patients surviving unrepaired rare form of Tetralogy of Fallot, our case shows noteworthiness. The possibility of definitive treatment of these conditions is rendered unsafe due to this persistent defect. Thus, management and ongoing survival of this patient remains complex and challenging.

Identifiants

pubmed: 39416598
doi: 10.1002/ccr3.9448
pii: CCR39448
pmc: PMC11480969
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e9448

Informations de copyright

© 2024 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd.

Déclaration de conflit d'intérêts

The authors have no conflict of interest to declare.

Auteurs

Anasuya Guha (A)

Department of Otorhinolaryngology 3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Charles University Prague Czech Republic.

Petra Antonova (P)

Department of Cardiology 2nd Faculty of Medicine and University Hospital Motol, Charles University Prague Czech Republic.

Tomas Zelinka (T)

3rd Department of Medicine - Department of Endocrinology and Metabolism 1st Faculty of Medicine and General University Hospital in Prague Prague Czech Republic.

Ales Vicha (A)

Department of Pediatric Hematology and Oncology 2nd Faculty of Medicine and University Hospital Motol, Charles University Prague Czech Republic.

Karel Pacak (K)

Section of Medical Neuroendocrinology Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health Bethesda Maryland USA.

Martin Chovanec (M)

Department of Otorhinolaryngology 3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Charles University Prague Czech Republic.

Classifications MeSH