Multimodality Imaging in Noonan Syndrome: Case Series of Young Children.

Radiology. Cardiothoracic imaging(2023)

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摘要
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial anomalies, growth failure, and a wide spectrum of cardiac abnormalities. Here, the clinical presentation, multimodality imaging characteristics, and management in a case series of four patients with NS are presented. Multimodality imaging showed frequently biventricular hypertrophy accompanied by biventricular outflow tract obstruction and pulmonary stenosis, similar late gadolinium enhancement pattern, and elevation of native T1 and extracellular volume, which may serve as multimodality imaging features in NS to aid in patient diagnosis and treatment. Keywords: Pediatrics, Echocardiography, MR Imaging, Cardiac Supplemental material is available for this article. © RSNA, 2023.
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