Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature - Summary - 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
To report a case of isolated absent pulmonary valve syndrome with intact ventricular septum (APVS-IVS) in a child diagnosed with CHARGE syndrome and to review related literature, emphasizing its significance in understanding the condition.
Key Findings:
This is the first reported case of isolated APVS-IVS associated with CHARGE syndrome, expanding the known phenotypes.
The patient exhibited biventricular non-compaction and a vascular ring, which may indicate a shared developmental pathway.
Genetic testing confirmed a heterozygous CHD7 variant consistent with CHARGE syndrome, reinforcing the genetic link.
Interpretation:
The coexistence of isolated APVS-IVS with multisystem anomalies suggests a unique developmental mechanism within the CHARGE spectrum, warranting further investigation into its implications for diagnosis and management.
Limitations:
The rarity of the condition limits generalizability and understanding of its full spectrum.
Long-term outcomes beyond two years are not fully assessed, and potential biases in case selection should be acknowledged.
Conclusion:
Early diagnosis and individualized management are crucial for optimizing outcomes in cases of isolated APVS-IVS, underscoring the need for multidisciplinary care.
