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Dysplastic Mitral Valve in Costello Syndrome
Tamara Naneishvili1, Mengshi Yuan1, Mohamed Mansour1
1Department of Cardiology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, United Kingdom.
JACC. Case Reports
|July 12, 2024
Summary
Costello syndrome, a genetic disorder, can present with heart issues. This report details the first known case of a dysplastic mitral valve in a patient with Costello syndrome.
Area of Science:
- Genetics and Human Diseases
- Cardiology
- Developmental Biology
Background:
- Costello syndrome is an autosomal dominant genetic disorder.
- It is caused by variants in the HRAS gene.
- Cardiac manifestations commonly include valvular disease, arrhythmias, and hypertrophic cardiomyopathy.
Purpose of the Study:
- To report a rare cardiac finding in Costello syndrome.
- To highlight the association between HRAS gene variants and specific valvular abnormalities.
- To contribute to the understanding of the cardiac phenotype in Costello syndrome.
Main Methods:
- Case report.
- Clinical evaluation of a patient with diagnosed Costello syndrome.
- Echocardiographic assessment of cardiac structure and function.
Main Results:
- The patient presented with a dysplastic mitral valve.
- This finding represents a previously undocumented cardiac manifestation of Costello syndrome.
- Other typical cardiac features may or may not be present.
Conclusions:
- Dysplastic mitral valve is a potential, albeit rare, cardiac manifestation of Costello syndrome.
- Genetic variants in HRAS may influence a broader spectrum of cardiac anomalies than previously recognized.
- Further research is warranted to elucidate the full spectrum of cardiac involvement in Costello syndrome.
