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Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome and multisystem disorder with autosomal dominant inheritance and variable penetrance. Cardiac rhabdomyomas have been reported in 50–64% of patients with TSC and transthoracic echocardiography is established as the primary imaging modality for their detection. The precise functional assessment of the left ventricle in these patients requires...
The presented case reports on successful treatment with everolimus in a neonate with left ventricular giant rhabdomyoma. The authors used a different dosage regime compared to literature and documented rapid tumor regression by 3D echocardiography.
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