Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature.
PMID 42395886 | PMCID PMC13323000 | DOI 10.3389/fcvm.2026.1727914 · Frontiers in cardiovascular medicine · 2026
BACKGROUND: Absent pulmonary valve syndrome (APVS) is a rare congenital heart defect usually associated with tetralogy of Fallot. Isolated APVS with intact ventricular septum (IVS) is exceptionally uncommon, and no previous link to CHARGE syndrome has been described. CASE PRESENTATION: We report a newborn girl diagnosed antenatally with isolated APVS-IVS. Postnatal evaluation revealed dysplastic absent pulmonary valve with free regurgitation, biventricular non-compaction, and multiple extracardiac anomalies including esophageal atresia, right aortic arch with left ductus arteriosus, and central nervous system malformations. Genetic testing identified a heterozygous CHD7 variant consistent with CHARGE syndrome. The patient showed spontaneous improvement in ventricular function after ductal closure and underwent successful balloon pulmonary valvuloplasty at four weeks of age with favorable long-term outcome. CONCLUSION: This is the first reported case of isolated APVS-IVS associated with CHARGE syndrome. The observation of biventricular non-compaction and vascular ring raises the possibility of a unique developmental mechanism within the CHARGE spectrum. Early diagnosis and individualized management are key to optimizing outcomes.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CHD7 | “Genetic testing identified a heterozygous CHD7 variant consistent with CHARGE syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “BACKGROUND: Absent pulmonary valve syndrome (APVS) is a rare congenital heart defect usually associated with tetralogy of Fallot.” | 0.93 | phenotype_alias_lexicon_v2 |