What is the role of echocardiograms in the workup of tuberous sclerosis complex (TSC)?

Updated: Aug 21, 2018
  • Author: David Neal Franz, MD; Chief Editor: Amy Kao, MD  more...
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Answer

Echocardiography is performed as part of the baseline evaluation in a patient with newly diagnosed or suspected TSC. Identification of cardiac rhabdomyomas can aid in diagnosis. Depending on their location and size, rhabdomyomas can result in valvular dysfunction, outflow tract obstruction, ventricular hypokinesis, or arrhythmias.

In our practice, echocardiography is not repeated if no lesions are seen on baseline examination. If cardiac lesions are seen, echocardiography is repeated as indicated clinically.


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