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Snijders Blok-Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report

Luisa Paul1, Victoria C Ziesenitz1, Matthias Gorenflo1

  • 1Pediatric Cardiology and Congenital Heart Diseases, Centre for Child and Adolescent Medicine, University Hospital, Im Neuenheimer Feld, 430, 69120 Heidelberg, Germany.

Reports (MDPI)
|July 25, 2025
PubMed

Insights

A DDX3X mutation may link Snijders Blok-Campeau syndrome to pulmonary arterial hypertension. This finding highlights DDX3X

Area of Science:

  • Genetics and Developmental Biology
  • Cardiology and Pulmonary Medicine

Background:

  • Snijders Blok-Campeau syndrome is characterized by psychomotor developmental delay and central nervous system malformations.
  • Complex congenital heart defects, including pulmonary arterial hypertension, can occur in affected infants.

Observation:

  • A case presentation of an infant with Snijders Blok-Campeau syndrome and a complex heart defect.
  • Genetic analysis revealed a mutation in the DDX3X gene, which encodes for RNA helicase.

Findings:

  • The DDX3X mutation may suggest a potential association between Snijders Blok-Campeau syndrome and the development of pulmonary vasculopathy.
  • Further research is required to validate this observed association.

Implications:

  • This study suggests a significant role for DDX3X in the development of pulmonary vasculature.
  • Understanding this link could inform future diagnostic and therapeutic strategies for related conditions.

Keywords:
CHD3Snijders Blok–Campeau syndromecase reportpulmonary arterial hypertensionvasculopathy

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