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

**Authors:** Raghad A Alotabi, Orjowan Z Alamri, Shahad E Alenezi, Ihab Suliman

PMC · DOI: 10.7759/cureus.52331 · Cureus · 2024-01-15

## TL;DR

A 15-year-old boy with Baraitser-Winter syndrome had successful heart surgery to treat aortic valve issues.

## Contribution

This is a rare case report of the Ross procedure used in a patient with Baraitser-Winter syndrome.

## Key findings

- The patient had a bicuspid aortic valve and severe aortic insufficiency.
- The Ross procedure was successfully performed to manage the condition.
- The case highlights the potential for surgical intervention in BRWS-related heart defects.

## Abstract

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.

## Linked entities

- **Genes:** ACTB (actin beta) [NCBI Gene 60], ACTG1 (actin gamma 1) [NCBI Gene 71]
- **Diseases:** Baraitser-Winter syndrome (MONDO:0017579), aortic insufficiency (MONDO:0005648)

## Full-text entities

- **Genes:** ACTG1 (actin gamma 1) [NCBI Gene 71] {aka ACT, ACTG, DFNA20, DFNA26, HEL-176}, ACTB (actin beta) [NCBI Gene 60] {aka BKRNS, BNS, BRWS1, CSMH, DDS1, PS1TP5BP1}
- **Diseases:** genetic disorder (MESH:D030342), BRWS (OMIM:243310), dysmorphic craniofacial features (MESH:C537512), aortic insufficiency (MESH:D001022), cardiovascular abnormalities (MESH:D018376), physical malformations (MESH:D059445), bicuspid aortic valve (MESH:D000082882), intellectual disability (MESH:D008607)

## Full text

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## Figures

9 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10866739/full.md

## References

13 references — full list in the complete paper: https://tomesphere.com/paper/PMC10866739/full.md

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Source: https://tomesphere.com/paper/PMC10866739