Cardiac rhabdomyomas associated with tuberous sclerosis complex in children. From presentation to outcome.

PURPOSE: The aim of this study was to evaluate the clinical and imaging features of patients with cardiac rhabdomyomas associated with tuberous sclerosis complex.

PATIENTS AND METHODS: The clinical and imaging characteristics of seven patients with cardiac rhabdomyomas associated with tuberous sclerosis complex between June 2008 and January 2013 were reviewed. The data collected included patient characteristics associated with tuberous sclerosis complex, clinical presentation at diagnosis of cardiac rhabdomyoma, and findings from electrocardiography, echocardiography, magnetic resonance imaging (MRI), and the follow-up period.

RESULTS: The age of the patients with tuberous sclerosis complex at diagnosis ranged from 3 months to 5 years with a mean age of 6 months. All patients underwent echocardiography, electrocardiography, and brain MRI and three patients also underwent cardiac MRI. Clinical presentation was epilepsy in all cases, multiple hypomelanotic macules in two patients, cardiac murmur in one patient, arrhythmia in three cases, and dyspnea in one case. Of the patients, six had multiple tumors and a total of 27 tumors were identified by echocardiography in seven patients, including eight in the left ventricle, 18 in the right ventricle, and one in the left atrium. Brain MRI revealed cortical tubers, subcortical tubers, and subependymal nodules in all cases but no subependymal giant cell astrocytoma. The median follow-up period was 2 years (range, 3 months to 4 years). One patient underwent surgical resection of the cardiac tumor because of severe obstruction of the left atrium and hemodynamic compromise. Spontaneous regression occurred in two cases during the follow-up period.

CONCLUSION: Cardiac rhabdomyomas are strongly associated with tuberous sclerosis complex and these patients exhibit a variety of clinical presentations. Sometimes these tumors can cause death and some patients may need immediate intervention in the early postnatal period or at a later point in life.