Every patient with TSC should have a thorough ophthalmological examination at the time of diagnosis. They may be detected prenatally by fetal echocardiography. These may cause mechanical problems due to their size or defects in conducting system due to their infiltrating nature. Rhabdomyomas usually undergo spontaneous resolution in the first few years of life even though residual areas of histologically abnormal myocardium may persist. Aneurysm of thoracic and abdominal aortas also rarely have been seen.
Renal involvement is manifested usually by an angiomyolipoma, less commonly renal cysts.
Pulmonary changes include lymphangiomatosis with cyst formation. This may be progressive and result in dyspnea, cor pulmonale, recurrent pneumothorax, and respiratory failure. Gastrointestinal tumors may be associated. Hepatic hamartomas also have been reported. The bones may show areas of cyst formation, periosteal new bone growth, and areas of sclerosis.