Aim Routine abdominal CT scans in patients with tuberous sclerosis complex (TSC) showed characteristic fatty foci in the depicted caudal portions of the myocardium. The purpose of this study was to investigate if areas of abnormal myocardium in patients with TSC could also be found in post-mortem specimens.
Methods A retrospective search of our histopathology database was performed to identify specimens of the heart of patients with TSC. Institutional review board approval was obtained, and patient informed consent was waived. Four specimens were included (mean age, 44 years; range 32–68 years; 2 females).
Results Two specimens (50%) of the heart showed areas of mature fat cells in the myocardium, without associated inflammation, without associated fibrosis, without entrapped myocardial cells and without a capsule.
Conclusion Post-mortem specimens of the heart of patients with TSC showed areas of mature fat cells in the myocardium which seem to be unique for TSC.
- Tuberous sclerosis complex
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Research was performed at the department of Pathology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
N.B. This manuscript will be part of my PhD thesis.
Competing interests None to declare.
Ethics approval This study was conducted with the approval of the University Medical Center Utrecht.
Provenance and peer review Not commissioned; not externally peer reviewed.