Table 2.

Surveillance and Management Recommendations for Newly Diagnosed or Suspected TSC Summary Table

Organ System or Specialty Area	Recommendation
Genetics	Obtain 3‐generation family history to assess for additional family members at risk of TSC Offer genetic testing for family counseling or when TSC diagnosis is in question but cannot be clinically confirmed
Brain	Perform MRI of the brain to assess for the presence of tubers, subependymal nodules (SEN), migrational defects, and subependymal giant cell astrocytoma (SEGA) Evaluate for TSC‐associated neuropsychiatric disorder (TAND) During infancy, educate parents to recognize infantile spasms, even if none have occurred at time of first diagnosis Obtain baseline routine electroencephalogram (EEG). If abnormal, especially if features of TAND are also present, follow up with a 24‐hour video EEG to assess for subclinical seizure activity
Kidney	Obtain MRI of the abdomen to assess for the presence of angiomyolipoma and renal cysts Screen for hypertension by obtaining an accurate blood pressure Evaluate renal function by determination of glomerular filtration rate
Lung	Perform baseline pulmonary function testing (PFT and 6‐minute walk test) and high‐resolution chest computed tomography (HRCT), even if asymptomatic, in patients at risk of developing lymphangioleiomyomatosis (LAM), typically female patients 18 years or older. Adult male patients, if symptomatic, should also undergo testing Provide counsel on smoking risks and estrogen use in adolescent and adult female patients
Skin	Perform a detailed clinical dermatologic inspection/examination
Teeth	Perform a detailed clinical dental inspection/examination
Heart	Consider fetal echocardiography to detect individuals with high risk of heart failure after delivery when rhabdomyomas are identified via prenatal ultrasound Obtain an echocardiogram in pediatric patients, especially if <3 years old Obtain an ECG in all ages to assess for underlying conduction defects
Eye	Perform a complete ophthalmologic evaluation, including dilated fundoscopy, to assess for retinal lesions and visual field deficits

MRI indicates magnetic resonance imaging; TSC, tuberous sclerosis complex.

Reproduced with permission from Krueger et al.⁶