Autopsy and Case Reports
https://app.periodikos.com.br/journal/autopsy/article/doi/10.4322/acr.2024.489
Autopsy and Case Reports
Autopsy Case Report

Sudden pediatric death unveiling pulmonary arteriovenous malformations

Hadeel Abu-El-Rub; Rashed Shatnawi; Yahia I AbuZetun; Doaa Ghorab; Ali M. Shotar

http://dx.doi.org/10.4322/acr.2024.489 Autops Case Rep, vol.14, e2024489, 2024
PDF
Downloads: 8
Views: 699

Abstract

Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins, often associated with hereditary hemorrhagic telangiectasia (HHT). Most PAVMs are asymptomatic, but life-threatening complications like pulmonary hemorrhage, brain abscesses, and paradoxical emboli can emerge, so prompt diagnosis and treatment are crucial. We report a case of sudden pediatric death in a two-year-old female with no past medical history. Initial vomiting and fast deterioration resulted in a sudden cardiac arrest. The postmortem examination found histological evidence of consistent, extensive lung damage. The absence of the characteristic symptoms made for some challenges when it came to diagnosis, showing precisely that in early life, you could well have many difficulties in catching PAVMs. This case highlights the need to take PAVMs into account as a potential cause of sudden death, particularly when there are no conspicuous symptoms. Awareness among forensic pathologists and consideration of genetic analysis for HHT in such cases is crucial for accurate diagnosis and management.

Keywords

Arteriovenous Malformations, Sudden Death, Forensic Pathology, Autopsy

References

1 Shovlin CL, Condliffe R, Donaldson JW, Kiely DG, Wort SJ, British Thoracic Society. British Thoracic Society clinical statement on pulmonary arteriovenous malformations. Thorax. 2017;72(12):1154-63. http://doi.org/10.1136/thoraxjnl-2017-210764. PMid:29141890.

2 Saboo SS, Chamarthy M, Bhalla S, et al. Pulmonary arteriovenous malformations: diagnosis. Cardiovasc Diagn Ther. 2018;8(3):325-37. http://doi.org/10.21037/cdt.2018.06.01. PMid:30057879.

3 Contegiacomo A, del Ciello A, Rella R, et al. Pulmonary arteriovenous malformations: what the interventional radiologist needs to know. Radiol Med (Torino). 2019;124(10):973-88. http://doi.org/10.1007/s11547-019-01051-7. PMid:31209790.

4 Lee EY, Boiselle PM, Cleveland RH. Multidetector CT evaluation of congenital lung anomalies. Radiology. 2008;247(3):632-48. http://doi.org/10.1148/radiol.2473062124. PMid:18487532.

5 Gossage JR, Kanj G. Pulmonary arteriovenous malformations. A state of the art review. Am J Respir Crit Care Med. 1998;158(2):643-61. http://doi.org/10.1164/ajrccm.158.2.9711041. PMid:9700146.

6 Pollak JS, Saluja S, Thabet A, Henderson KJ, Denbow N, White RI Jr. Clinical and anatomic outcomes after embolotherapy of pulmonary arteriovenous malformations. J Vasc Interv Radiol. 2006;17(1):35-44, quiz 45. http://doi.org/10.1097/01.RVI.0000191410.13974.B6. PMid:16415131.

7 Vase P, Holm M, Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand. 1985;218(1):105-9. http://doi.org/10.1111/j.0954-6820.1985.tb08832.x. PMid:4050544.

8 Allen SW, Whitfield JM, Clarke DR, Sujansky E, Wiggins JW. Pulmonary arteriovenous malformation in the newborn: A familial case. Pediatr Cardiol. 1993;14(1):58-61. http://doi.org/10.1007/BF00794850. PMid:8456028.

9 Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM. 1995;88(12):879-87. PMid:8593547.

10 Minamikawa R, Ryu Y, Sanada J, Takata H, Okumura T. Pulmonary arteriovenous malformations diagnosed through hemoptysis: a case report. Radiol Case Rep. 2020;16(2):305-8. http://doi.org/10.1016/j.radcr.2020.11.037. PMid:33304440.

11 Pierucci P, Murphy J, Henderson KJ, Chyun DA, White RI Jr. New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: twenty-seven-year experience. Chest. 2008;133(3):653-61. http://doi.org/10.1378/chest.07-1949. PMid:18198252.

12 Aggarwal V, Khan DM, Rhodes JF. Pulmonary arteriovenous malformation causing systemic hypoxemia in early infancy. Case Rep Pediatr. 2017;2017:2841720. http://doi.org/10.1155/2017/2841720. PMid:28373920.

13 Mohammed MHA, Hrfi A, AlQwee AM, Tamimi O. Pulmonary arteriovenous malformation in a neonate: a condition commonly misdiagnosed. Sudan J Paediatr. 2018;18(2):56-60. http://doi.org/10.24911/SJP.106-1528143670. PMid:30799901.

14 Ishikawa T, Pollak S, Pflugradt R, et al. Pulmonary arteriovenous malformation causing sudden death due to spontaneous hemothorax. Int J Legal Med. 2010;124(5):459-65. http://doi.org/10.1007/s00414-009-0401-4. PMid:20039052.
 

Submitted date:
02/08/2024

Reviewed date:
03/12/2024

Accepted date:
03/13/2024

Publication date:
05/22/2024

664e239da953954ced49f433 autopsy Articles
Links & Downloads
2236-1960 (Electronic)
Autops Case Rep ©2024 All rights reserved.

Autops Case Rep

Share this page
Page Sections