Magnetic resonance imaging of intramyocardial fat deposition in tuberous sclerosis

Abstract

Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurocutaneous syndrome. The phenotype is highly variable and may affect several organ systems, the hallmark of the disease being widespread hamartomas or abnormal growth of normal tissues. Although cardiac rhabdomyomas are the most common cardiac manifestation of TSC, being developed quite early, even during the second semester of the gestation, they tend to regress spontaneously over a period of months or years. On the other hand, the presence of intramyocardial fat deposition has been significantly associated with brain involvement and other extracardiac manifestations. We report the case of a 37-year-old man with TSC who presented to hospital with loss of consciousness, head injury and amnesia and in whom cardiac magnetic resonance imaging revealed the presence of multiple areas intramyocardial fat deposition.