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Interatrial septal aneurysm and genetic prothrombotic disorders: possible interaction in the pathogenesis of
V Scarabeo1, R Cernetti, C Zorzi
1Department of Cardiology, P. Cosma Hospital, Camposampiero (PD), Italy.
Insights
Pediatric stroke, though rare, can stem from multiple causes. This case highlights a 10-year-old girl with a prothrombin gene variant and atrial septal aneurysm, suggesting a combined risk for ischemic stroke.
Area of Science:
- Neurology
- Pediatrics
- Cardiology
Background:
- Childhood stroke is uncommon and multifactorial.
- Prothrombotic disorders are known risk factors for pediatric cerebral ischemic events.
- Atrial septal abnormalities have been linked to ischemic stroke in young adults.
Observation:
- A 10-year-old female child experienced an ischemic stroke.
- The patient was heterozygous for the prothrombin G20210A variant.
- She also presented with an atrial septal aneurysm and an interatrial shunt.
Findings:
- The case suggests a potential synergistic role between genetic prothrombotic factors and cardiac abnormalities in pediatric stroke.
- The prothrombin G20210A variant, a prothrombotic disorder, was identified.
- An atrial septal aneurysm with an interatrial shunt was observed concurrently.
Implications:
- Further research is needed to clarify the pathogenetic mechanisms of pediatric stroke.
- Understanding the interplay of genetic and cardiac factors may improve stroke risk assessment in children.
- This case underscores the importance of investigating both prothrombotic states and cardiac anomalies in pediatric ischemic stroke.
Abstract:
Stroke in children is a rare condition and has a multifactorial etiology. The association between ischemic stroke in young adults and some minor cardiac abnormalities such as atrial septal aneurysm with or without interatrial shunting has recently been reported: however, the pathogenetic mechanism still remains unclear. Genetic and acquired prothrombotic disorders are also risk factors for cerebral ischemic events in children. We report a case of ischemic stroke in a 10-year-old female child who was heterozygous for the prothrombin G20210A variant and who presented with an atrial septal aneurysm associated with an interatrial shunt. We hypothesize that these risk factors play a synergic role but their relative importance and whether alone they can determine cerebral embolism remain to be determined.