VB
Vikas Bhardwaj
Medical Technologist, AIIMS New Delhi
Updated: Apr 17, 2026
**Core Concept**
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the growth of noncancerous tumors in various organs, including the brain, kidneys, and heart. This condition is associated with mutations in either the TSC1 or TSC2 genes, leading to the development of hamartomas and other lesions.
**Why the Correct Answer is Right**
The presence of a cardiac rhabdomyoma, a type of benign tumor, in combination with mental retardation, seizures, and facial angiofibromas, strongly suggests tuberous sclerosis complex (TSC). The association between cardiac rhabdomyomas and TSC is well-established, and these tumors are often found in children with this condition. The pathologic examination of the resected mass demonstrating a cardiac rhabdomyoma further supports this diagnosis.
**Why Each Wrong Option is Incorrect**
* **Option A:** Subependymal giant cell astrocytoma (SEGA) is another type of tumor associated with TSC, but it is typically located in the brain, specifically in the wall of the lateral ventricles, and is not a cardiac tumor.
* **Option B:** Hemangioblastoma is a type of benign tumor that can occur in the central nervous system, but it is not typically associated with TSC or cardiac rhabdomyomas.
* **Option C:** Lymphangioma is a type of benign tumor that can occur in the lymphatic system, but it is not typically associated with TSC or cardiac rhabdomyomas.
**Clinical Pearl / High-Yield Fact**
Tuberous sclerosis complex (TSC) is a genetic disorder with a high degree of variability in presentation and severity, making it essential for clinicians to consider this diagnosis in patients with a combination of seizures, developmental delay, and specific cutaneous lesions, such as facial angiofibromas.
**Correct Answer:** D.