Abstract
Tuberous sclerosis is a rare genetic disorder, often diagnosed based on clinical manifestations. We report a case of a 39-year-old woman retrospectively diagnosed with tuberous sclerosis after giving birth to a child with cardiac rhabdomyomas. This case highlights the awareness of clinical manifestations of orphan diseases among physicians and the need for a broader approach to managing patients, extending beyond the limited perspective of medical professionals specializing in a particular area of health and facilitated through multidisciplinary consultations, highlighting the significance of educational initiatives among specialists and the general population for early detection and implementation of corrective measures in rare genetic disorders.
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