Abstract
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome. The hallmark of the disease is multiple hamartomatous lesions in multiple organ systems. Common cardiac manifestations of TSC are rhabdomyomas, which are a benign tumor of striated muscle. In some patients with TSC, myocardial fatty foci (MFF) deposition has been described with or without the presence of rhabdomyomas.We present the case of a 24-year-old female with TSC and refractory seizures, who was evaluated with cardiac magnetic resonance (CMR) for an intracardiac right ventricular mass thought to be rhabdomyoma on echocardiography and for multiple areas of myocardial fatty deposition. Myocardial fatty deposition is a common finding in patients at cardiac imaging. In patients with TSC, it is critical that fatty deposits and lipomas are clearly distinguished from rhabdomyoma. CMR is an integral part of characterizing cardiac masses as it has superior soft tissue characterization and a wider field of view compared to echocardiography. A positive correlation has been shown between the number of MFF and the degree of extracardiac tuberous sclerosis (TS) manifestations suggesting that MFF may indicate more severe multiorgan disease in patients with TSC.Cardiac MR is superior to echocardiogram in evaluating and distinguishing intracardiac lipomas and fatty deposits from rhabdomyomas. Published studies have indicated that in patients with TSC, the presence of MFF correlates with the severity of multiorgan disease as was seen in our case.
Highlights
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome of variable phenotypes arising due to mutation of cellular proliferation genes TSC1 or TSC2
We present the case of a 24-year-old female with TSC and refractory seizures, who was evaluated with cardiac magnetic resonance (CMR) for an intracardiac right ventricular mass thought to be rhabdomyoma on echocardiography and for multiple areas of myocardial fatty deposition
computed tomography (CT) and MR images demonstrate manifestations of multiorgan disease related to tuberous sclerosis complex. (a, b) Contrast-enhanced, T1-weighted brain MRI in axial and sagittal planes show subependymal tubers and signal abnormality in the subcortical white matter. (c) Axial out-of-phase T1-weighted images show innumberable angiomyolipomas scattered throughout both kidneys. (d) Axial chest CT demonstrates a prominent lung cyst in the anterior right middle lobe from lymphangioleiomyomatosis, a large pneumothorax, and right-sided chylous effusion
Summary
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome of variable phenotypes arising due to mutation of cellular proliferation genes TSC1 or TSC2. In some patients with TSC, myocardial fatty foci (MFF) deposition has been described with or without the presence of rhabdomyomas [3,4]. Initially thought to be a rhabdomyoma, was noted within the right ventricle (RV) at the mid septal region (Figure 1). The MFF lesions identified on CMR correlated geographically to the echogenic foci seen on the prior TTE. There was a large fatty deposit in the subendocardial region of the right ventricle along the mid interventricular septum compatible with a lipoma (Figure 3). This lesion and the other MFF lesions had no enhancement and no internal soft tissue components.
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