The Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report

The Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report

Baraitser-Winter syndrome (BRWS) is a rare genetic disorder caused by mutations in the ACTB and ACTG1 genes. It is characterized by intellectual disability, physical malformations, and dysmorphic craniofacial features. Additionally, cardiovascular abnormalities may also be present. We present a case...

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Veröffentlicht in:Curēus (Palo Alto, CA) CA), 2024-01, Vol.16 (1), p.e52331
Hauptverfasser: Alotabi, Raghad A, Alamri, Orjowan Z, Alenezi, Shahad E, Suliman, Ihab
Format: Artikel
Sprache:eng
Schlagworte:
Antibiotics
Cardiology
Case reports
Congenital diseases
Coronary vessels
Genetic testing
Genetics
Intellectual disabilities
Mitral valve prolapse
Mutation
Pediatrics
Pulmonary arteries
Ultrasonic imaging
Veins & arteries
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Beschreibung
Zusammenfassung:Baraitser-Winter syndrome (BRWS) is a rare genetic disorder caused by mutations in the ACTB and ACTG1 genes. It is characterized by intellectual disability, physical malformations, and dysmorphic craniofacial features. Additionally, cardiovascular abnormalities may also be present. We present a case of a 15-year-old boy with BRWS associated with congenital bicuspid aortic valve and severe aortic insufficiency which was managed successfully with Ross procedure.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.52331