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Our experience on Bentall procedure in an adult patient with Baraitser-Winter syndrome
Gökmen Akkaya1, Çağatay Bilen1, Osman Nuri Tuncer1
1Department of Pediatric Cardiovascular Surgery, Ege University Faculty of Medicine, İzmir, Turkey.
Insights
Baraitser-Winter syndrome, a rare genetic disorder, can lead to aortic aneurysms in affected individuals. This case highlights a 26-year-old male treated for aortic valve regurgitation and ascending aorta aneurysm.
Area of Science:
- Genetics
- Cardiology
- Rare Diseases
Background:
- Baraitser-Winter syndrome is a rare genetic disorder linked to defects in cytoplasmic actin-encoding genes.
- While the phenotype is often similar, cardiac anomalies present significant variability among patients.
Observation:
- This report details a 26-year-old male diagnosed with Baraitser-Winter syndrome.
- The patient presented with new-onset aortic valve regurgitation and an ascending aorta aneurysm.
Findings:
- The study identifies aortic aneurysms as a potential long-term complication of Baraitser-Winter syndrome, stemming from actin gene mutations.
- The patient successfully underwent a Bentall procedure to address the aortic pathology.
Implications:
- This case underscores the importance of long-term cardiovascular surveillance in patients with Baraitser-Winter syndrome.
- Identifying aortic aneurysms in these patients is crucial for timely surgical intervention and improved outcomes.
Abstract:
Baraitser-Winter syndrome is a very rare genetic disorder caused by cytoplasmic actin-encoding genes defects. Although most patients have similar phenotype, concomitant cardiac anomalies widely vary. In addition to well-described congenital heart diseases, aortic aneurysms occur due to underlying actin gene mutation in these patients in the further years. Herein, we present a 26-year-old male case who underwent Bentall procedure with the diagnosis of new-onset aortic valve regurgitation and an ascending aorta aneurysm.
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