Keywords: Cardiovascular, Cardiovascular, Noonan syndrome; non-syndromic hypertrophic cardiomyopathy; cardaic MRI; young children
Motivation: The high prevalence of cardiac involvement necessitates comprehensive cardiac exploration at diagnosis and during follow-up in NS, especially when NS was found to be a risk factor in children with HCM
Goal(s): Our study aimed to identify and assess the cardiac MRI features of NS in comparison with non-syndromic HCM in a cohort of young children
Approach: 10 young children genetically confirmed with NS and 10 children genetically confirmed with HCM were evaluated by cardiac MRI
Results: ROC curves documented the diagnostic performance of MRI features(LGE quantification, T1 mapping and strain analysis) in differentiating NS patients from HCM patients
Impact: We performed comprehensive evaluation of pediatric NS by comparison with non-syndromic HCM, and defined a vital role of cardiac MRI in NS. Comprehensive cardiac MRI findings will provide more insights into the rare hereditary cardiomyopathy for researchers and clinicians
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