AI Article Synopsis
- Costello syndrome is an autosomal dominant genetic condition linked to variants in a specific gene.
- Patients commonly experience cardiac issues, such as valvular disease (notably pulmonary stenosis), arrhythmias, and hypertrophic cardiomyopathy.
- This report highlights the first known case of a dysplastic mitral valve related to Costello syndrome.
Article Abstract
Costello syndrome is an autosomal dominant condition caused by variants in the gene. Cardiac presentation includes valvular disease (usually valvar pulmonary stenosis), arrhythmias, and hypertrophic cardiomyopathy. To our knowledge, this is the first such report of dysplastic mitral valve associated with Costello syndrome.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237932 | PMC |
| http://dx.doi.org/10.1016/j.jaccas.2024.102408 | DOI Listing |
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