# Sudden pediatric death unveiling pulmonary arteriovenous malformations

**Authors:** Hadeel Abu-El-Rub, Rashed Shatnawi, Yahia I AbuZetun, Doaa Ghorab, Ali M. Shotar

PMC · DOI: 10.4322/acr.2024.489 · Autopsy & Case Reports · 2024-05-22

## TL;DR

A two-year-old child died suddenly from undiagnosed pulmonary arteriovenous malformations, highlighting the need for awareness in forensic and medical professionals.

## Contribution

This case emphasizes the importance of considering PAVMs as a cause of sudden pediatric death, even in the absence of symptoms.

## Key findings

- The child's sudden death was caused by undiagnosed PAVMs, which were not evident from her medical history or symptoms.
- The postmortem revealed extensive lung damage consistent with PAVMs, underscoring the challenges in diagnosing these in early life.
- The case suggests the need for genetic analysis for HHT in sudden unexplained pediatric deaths.

## 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.

## Linked entities

- **Diseases:** hereditary hemorrhagic telangiectasia (MONDO:0019180)

## Full-text entities

- **Diseases:** cardiac arrest (MESH:D006323), brain abscesses (MESH:D001922), lung damage (MESH:D008171), pulmonary hemorrhage (MESH:D006470), vomiting (MESH:D014839), HHT (MESH:D013683), PAVMs (MESH:D001165), Sudden pediatric death (MESH:D003645)

## Full text

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## Figures

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## References

14 references — full list in the complete paper: https://tomesphere.com/paper/PMC11129858/full.md

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Source: https://tomesphere.com/paper/PMC11129858