Tuberous Sclerosis

Autosomal dominant neurocutaneous disorder associated with development of benign tumors of the embryonic ectoderm

Myocardial Fatty Foci (MFF)

• MFF are benign fatty deposits in myocardial tissue and have been described as well-circumscribed lesions with no invasion, no mass effect, and no signs of enhancement on CT and MR
• prior studies by Adriaensen et al. and Tresoldi et al. report a prevalence for MFF of 64% and 50% in TSC patients, respectively
• MFF have been reported in interventricular septum, left ventricular wall, right ventricular wall and papillary muscles with shapes ranging from ovoid to linear
  • Clinical significance of MFF
    • the prevalence of MFF is higher in TSC patients when compared to non-TSC patients and may serve as a useful clinical finding in patients with undiagnosed TS
    • Tresoldi et al. have shown  a positive correlation between fatty foci number and degree of extra cardiac involvement; indicating that MFF may shed light on disease severity
    • on echocardiogram, MFF has been characterized by hyper-echogenicity and must be distinguished from Cardiac rhabdomyoma, which is also hyperechogenic on echocardiogram