Dysplastic Mitral Valve in 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.