Sudden pediatric death unveiling pulmonary arteriovenous malformations

Area of Science:

• Cardiovascular Medicine
• Pediatric Pathology
• Vascular Biology

Background:

• Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins.
• PAVMs are frequently associated with hereditary hemorrhagic telangiectasia (HHT), an inherited vascular disorder.
• While often asymptomatic, PAVMs can lead to severe complications including hemorrhage, stroke, and abscesses.

Observation:

• A case of sudden, unexplained death in a previously healthy two-year-old female is presented.
• The child experienced rapid deterioration following initial vomiting, culminating in cardiac arrest.
• Postmortem examination revealed extensive lung damage consistent with PAVMs.

Findings:

• The absence of characteristic PAVM symptoms posed diagnostic challenges.
• This case underscores the difficulty in diagnosing PAVMs in early childhood.
• Histological findings confirmed significant pulmonary vascular abnormalities.

Implications:

• PAVMs should be considered a potential cause of sudden pediatric death, especially when symptoms are atypical.
• Increased awareness among forensic pathologists is crucial for identifying PAVMs in postmortem examinations.
• Genetic analysis for HHT should be considered in pediatric sudden death cases with suspected vascular anomalies.