Cardiac rhabdomyomas and cerebral lesions in 4 pediatric patients with tuberous sclerosis

Rhabdomyoma is the most common primary cardiac tumor in pediatric patients. A strong association exists between cardiac rhabdomyomas and tuberous sclerosis (TS), an autosomal dominant disease, characterized by diffuse lesions in the nervous system, such as cortical-subcortical tubers and subependymal nodules. In TS, cardiac rhabdomyomas typically are diagnosed in childhood, but they could be detected in the neonatal period with echocardiography and magnetic resonance imaging and may precede cerebral lesions. Therefore, the precocious detection of cardiac rhabdomyomas in pediatric patients can suggest the diagnosis of TS and the early detection of cerebral lesions, improving the management of the related symptoms. We reported the cases of 4 pediatric patients, in which the detection of cardiac rhabdomyomas lead to the early discovery of cerebral lesions and the diagnosis of the TS.