Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature - Report - MDSpire
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Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature
Clinical Report: Isolated Absent Pulmonary Valve Syndrome in CHARGE Syndrome
Overview
This report presents a unique case of isolated absent pulmonary valve syndrome (APVS) with intact ventricular septum (IVS) in a newborn diagnosed with CHARGE syndrome. The patient exhibited significant cardiac and extracardiac anomalies but showed improvement following intervention.
Background
Absent pulmonary valve syndrome (APVS) is a rare congenital heart defect typically associated with tetralogy of Fallot. The occurrence of isolated APVS with intact ventricular septum is exceptionally uncommon, and its association with CHARGE syndrome has not been previously documented. Understanding this condition is crucial for early diagnosis and management, which can significantly impact patient outcomes.
Data Highlights
No numerical data available in the article.
Key Findings
Rephrase findings for clarity and ensure they are directly supported by the case report.
Clinical Implications
Early diagnosis of isolated APVS-IVS is essential for optimizing management strategies. Multidisciplinary care planning is crucial due to the complexity of associated anomalies and the potential for significant hemodynamic instability.
Conclusion
This case underscores the importance of recognizing isolated APVS-IVS within the context of CHARGE syndrome, highlighting unique developmental mechanisms and the need for tailored clinical approaches.
