Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report
<b>Background and Clinical Significance</b>: We report on an infant with Snijders Blok–Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. <b>Case Presentation</b>: A <i>DDX3X</i> m...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-04-01
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| Series: | Reports |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2571-841X/8/2/47 |
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| Summary: | <b>Background and Clinical Significance</b>: We report on an infant with Snijders Blok–Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. <b>Case Presentation</b>: A <i>DDX3X</i> mutation encoding for RNA helicase was detected, which may suggest an association between Snijders Blok–Campeau syndrome and the development of pulmonary vasculopathy. However, further validation is required. <b>Conclusions</b>: We suggest an important role for <i>DDX3X</i> in the development of the pulmonary vasculature. |
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| ISSN: | 2571-841X |