# Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report

## TL;DR

A 22-year-old man with tuberous sclerosis complex was diagnosed with cardiac rhabdomyomas, which are typically found in children, highlighting the need for ongoing monitoring in adults.

## Contribution

This case report documents an unusual adult-onset cardiac rhabdomyoma in tuberous sclerosis complex, expanding clinical awareness of late manifestations.

## Key findings

- Cardiac rhabdomyomas were detected in a 22-year-old with tuberous sclerosis complex via echocardiography.
- The patient exhibited chest pain and refractory epilepsy, with no prior cardiac symptoms.
- Late-onset cardiac rhabdomyomas in adults with tuberous sclerosis may present with variable symptoms.

## Abstract

Tuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems. Heart-benign tumors that result from the complex are called cardiac rhabdomyomas. Unlike hamartomas that occur in other organs, cardiac rhabdomyomas are most prevalent in infants and very young children with tuberous sclerosis complex. We present a case of a young adult with tuberous sclerosis who had an unusually late diagnosis of cardiac rhabdomyomas.

A 22-year-old male patient of Afro-descendant, diagnosed with tuberous sclerosis complex in childhood, presented with refractory epilepsy and was treated only with lacosamide. The patient came to medical consultation due to a recent history of episodic, persistent chest pain in the sternal region, associated with physical effort. Echocardiography revealed a non-dilated left ventricle, with several rounded masses of high echogenicity without pedicles at the apical level, the largest measuring 14 × 11 mm, consistent with cardiac rhabdomyomas.

Cardiac rhabdomyomas rarely develop in adulthood for individuals with tuberous sclerosis. These late-onset cases can exhibit various symptoms, from simple to complex presentations. Regular clinical checkups are essential for adults with tuberous sclerosis complex.