Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review
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This study investigates the association between MRAS-related Noonan syndrome and hypertrophic cardiomyopathy (HCM), aiming to highlight the severity of cardiac manifestations linked to MRAS variants. The authors present a new case with severe antenatal features and review existing literature, concluding that pathogenic MRAS variants are strongly correlated with a high risk of HCM. Additionally, they discuss the potential of targeted therapies, such as MEK inhibitors, for treatment.
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