Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature - Takeaways - MDSpire

Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature

  • By

  • Azzam Alqashami

  • Maryam Alkhalaf

  • Faleh Al Qahtani

  • June 18, 2026

  • 0 min

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  • 1

    Isolated absent pulmonary valve syndrome with intact ventricular septum is exceptionally rare and has not been previously linked to CHARGE syndrome.

  • 2

    The case involved a newborn girl with multiple extracardiac anomalies, including esophageal atresia and central nervous system malformations.

  • 3

    Genetic testing identified a heterozygous CHD7 variant, confirming the diagnosis of CHARGE syndrome in the patient.

  • 4

    The patient showed spontaneous improvement in ventricular function after ductal closure and underwent successful balloon pulmonary valvuloplasty.

  • 5

    This case highlights the importance of early diagnosis and individualized management for optimizing outcomes in complex congenital heart defects.

Original Source(s)

Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature

  • by Azzam Alqashami, Maryam Alkhalaf, Faleh Al Qahtani

  • June 18, 2026

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