Systematic review and meta-analysis links pediatric cerebral AVMs with congenital heart defects and outlines prognostic factors

Cerebral arteriovenous malformations (AVMs) and congenital heart diseases (CHDs) are rare, complex conditions that often present diagnostic and therapeutic challenges-especially when they coexist in pediatric patients. Though individually uncommon, their association raises important questions about shared developmental origins, systemic implications, and long-term outcomes. Understanding this relationship is crucial for improving early recognition, tailoring treatment strategies, and reducing morbidity and mortality in affected children. This systematic review and meta-analysis explored the relationship between AVMs and CHDs in the pediatric population, analyzing 139 studies published between 1971 and 2023. Together, these studies included data from 1042 patients. The co-occurrence of these two conditions highlights a potential interplay between cerebral and cardiac vascular development. By clarifying their association, this study aims to support earlier recognition, improve multidisciplinary management, and ultimately enhance clinical outcomes. The results revealed important patterns in how specific types and locations of AVMs relate to different forms of heart disease. AVMs located in infratentorial regions-such as the brainstem and cerebellum-were generally associated with lower risks of complications, while those in deep cerebral areas showed stronger links to adverse outcomes. Among the heart conditions evaluated, atrial septal defects (ASDs), cardiomyopathies, and high-output cardiac failure were most frequently associated with AVMs, suggesting overlapping embryologic and hemodynamic mechanisms. The most commonly reported complications included hydrocephalus, hemorrhage, and mortality. ROC curve analysis showed that mortality had the highest predictive value (AUC 0.62), followed by hydrocephalus (0.53) and hemorrhage (0.48). A composite risk model (AUC 0.59) suggested that combining clinical variables could improve prognostication. Neurological sequelae such as seizures, developmental delay, and microcephaly were frequent, particularly in hemorrhagic cases. Interestingly, in some patients, AVM treatment led to improvement in cardiac symptoms, suggesting a bidirectional relationship between cerebral and cardiac function. Despite variability in study quality, results were consistent across analyses, even when lower-quality studies were excluded. Most studies were rated moderate to high quality, though classification challenges were noted. Overall, the findings support a meaningful association between specific AVM and CHD subtypes and highlight the importance of early diagnosis and collaborative care involving multidisciplinary approach.