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.

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

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

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

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

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

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Ossa Galvis M, Bhakta R, Tarmahomed A, Mendez M. Cyanotic Heart Disease. StatPearls Publishing; 2023. PubMed

Mainwaring RD, Patrick WL, Hanley FL. Surgical management of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: part I—anatomy, physiology, and palliative procedures. Oper Tech Thorac Cardiovasc Surg. 2019;24:38‐55. doi:10.1053/j.optechstcvs.2019.07.003 DOI

McDonald‐McGinn D, Heather D, Beverly S, Elaine H. 22q11.2 Deletion Syndrome. GeneReviews®. University of Washington, Seattle; 2020. PubMed

Marom T, Roth Y, Goldfarb A, Cinamon U. Head and neck manifestations of 22q11.2 deletion syndromes. Eur Arch Otorhinolaryngol. 2012;269:381‐387. doi:10.1007/s00405-011-1745-1 PubMed DOI

Guha A, Musil Z, Vicha A, et al. A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas. Neoplasma. 2019;66:671‐680. doi:10.4149/neo_2018_181208N933 PubMed DOI PMC

Guha A, Vicha A, Zelinka T, et al. High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas. Front Endocrinol (Lausanne). 2023;14:14. doi:10.3389/fendo.2023.1278175 PubMed DOI PMC

Anaclerio S, Marino B, Carotti A, et al. Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns. Ital Heart J. 2001;2:384‐387. PubMed

Shi H, Wang Z. Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes. Medicine. 2018;97:e9936. doi:10.1097/MD.0000000000009936 PubMed DOI PMC

Shenoy V, Sampath R. Syringomyelia. StatPearls Publishing; 2022. PubMed

Speer MC, Enterline DS, Mehltretter L, et al. Review article: Chiari type I malformation with or without syringomyelia: prevalence and genetics. J Genet Couns. 2003;12:297‐311. doi:10.1023/A:1023948921381 PubMed DOI

Rajamurugan PSA, Rajendran CP, Rukmangatharajan S, Rajeswari S, Ravichandran R. Swollen hand as presenting manifestation of syringomyelia. J Clin Rheumatol. 2008;14:125‐126. doi:10.1097/RHU.0b013e31816dc6ea PubMed DOI

van Doesburg MHM, Harbech H, Lokhorst MM, Breugem CC. Surgical management of vascular malformations of the upper extremity: a review of current literature. JPRAS Open. 2022;33:63‐75. doi:10.1016/j.jpra.2022.05.008 PubMed DOI PMC

Wang Y, Zhang G, Chao J. Primary malignant pheochromocytoma in the left forearm. Chin Med J. 1996;109:331‐333. PubMed

Chong Y, Park M, Ko Y‐H. Extra‐adrenal paraganglioma of the median nerve. J Plast Surg Hand Surg. 2014;48:429‐431. doi:10.3109/2000656X.2013.806409 PubMed DOI

Furusu H, Matsuo H, Nakao K, Ueda Y, Aoi W. Von Hippel‐Lindau disease with multiple spinal cord hemangioblastomas, Syringomyelia and Pheochromocytoma. Internal Med. 1995;34:216‐219. doi:10.2169/internalmedicine.34.216 PubMed DOI

Saldana MJ, Salem LE, Travezan R. High altitude hypoxia and chemodectomas. Hum Pathol. 1973;4:251‐263. doi:10.1016/S0046-8177(73)80012-7 PubMed DOI

Rodríguez‐Cuevas S, López‐Garza J, Labastida‐Almendaro S. Carotid body tumors in inhabitants of altitudes higher than 2000 meters above sea level. Head Neck. 1998;20:374‐378. PubMed

Pacheco‐Ojeda LA. Carotid body tumors: surgical experience in 215 cases. J Craniomaxillofac Surg. 2017;45:1472‐1477. doi:10.1016/j.jcms.2017.06.007 PubMed DOI

Wang Y‐H, Zhu J‐H, Yang J, et al. The characteristics of carotid body tumors in high‐altitude region: analysis from a single center. Vascular. 2022;30:301‐309. doi:10.1177/17085381211005238 PubMed DOI

Hirsch J, Killien F, Troupin R. Bilateral carotid body tumors and cyanotic heart disease. Am J Roentgenol. 1980;134:1073‐1075. doi:10.2214/ajr.134.5.1073 PubMed DOI

Opotowsky AR, Moko LE, Ginns J, et al. Pheochromocytoma and paraganglioma in cyanotic congenital heart disease. J Clin Endocrinol Metab. 2015;100:1325‐1334. doi:10.1210/jc.2014-3863 PubMed DOI PMC

Bull K, Somerville J, Ty E, Spiegelhalter D. Presentation and attrition in complex pulmonary atresia. J Am Coll Cardiol. 1995;25:491‐499. doi:10.1016/0735-1097(94)00364-V PubMed DOI

Fukui D, Kai H, Takeuchi T, et al. Longest survivor of pulmonary atresia with ventricular septal defect. Circulation. 2011;124:2155‐2157. doi:10.1161/CIRCULATIONAHA.111.035469 PubMed DOI

Pamporaki C, Prodanov T, Meuter L, et al. Determinants of disease‐specific survival in patients with and without metastatic pheochromocytoma and paraganglioma. Eur J Cancer. 2022;169:32‐41. doi:10.1016/j.ejca.2022.03.032 PubMed DOI