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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-04-01
|
| Series: | Reports |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2571-841X/8/2/47 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849704820128088064 |
|---|---|
| author | Luisa Paul Victoria C. Ziesenitz Matthias Gorenflo |
| author_facet | Luisa Paul Victoria C. Ziesenitz Matthias Gorenflo |
| author_sort | Luisa Paul |
| collection | DOAJ |
| description | <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. |
| format | Article |
| id | doaj-art-2b4ecaef23f74617bf6c7ea69cbf1c23 |
| institution | DOAJ |
| issn | 2571-841X |
| language | English |
| publishDate | 2025-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Reports |
| spelling | doaj-art-2b4ecaef23f74617bf6c7ea69cbf1c232025-08-20T03:16:39ZengMDPI AGReports2571-841X2025-04-01824710.3390/reports8020047Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case ReportLuisa Paul0Victoria C. Ziesenitz1Matthias Gorenflo2Pediatric Cardiology and Congenital Heart Diseases, Centre for Child and Adolescent Medicine, University Hospital, Im Neuenheimer Feld, 430, 69120 Heidelberg, GermanyPediatric Cardiology and Congenital Heart Diseases, Centre for Child and Adolescent Medicine, University Hospital, Im Neuenheimer Feld, 430, 69120 Heidelberg, GermanyPediatric Cardiology and Congenital Heart Diseases, Centre for Child and Adolescent Medicine, University Hospital, Im Neuenheimer Feld, 430, 69120 Heidelberg, Germany<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.https://www.mdpi.com/2571-841X/8/2/47CHD3Snijders Blok–Campeau syndromecase reportvasculopathypulmonary arterial hypertension |
| spellingShingle | Luisa Paul Victoria C. Ziesenitz Matthias Gorenflo Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report Reports CHD3 Snijders Blok–Campeau syndrome case report vasculopathy pulmonary arterial hypertension |
| title | Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report |
| title_full | Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report |
| title_fullStr | Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report |
| title_full_unstemmed | Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report |
| title_short | Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report |
| title_sort | snijders blok campeau syndrome associated with pulmonary arterial hypertension a case report |
| topic | CHD3 Snijders Blok–Campeau syndrome case report vasculopathy pulmonary arterial hypertension |
| url | https://www.mdpi.com/2571-841X/8/2/47 |
| work_keys_str_mv | AT luisapaul snijdersblokcampeausyndromeassociatedwithpulmonaryarterialhypertensionacasereport AT victoriacziesenitz snijdersblokcampeausyndromeassociatedwithpulmonaryarterialhypertensionacasereport AT matthiasgorenflo snijdersblokcampeausyndromeassociatedwithpulmonaryarterialhypertensionacasereport |