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

• Published in: Frontiers in medicine Vol. 11; p. 1386089
• Main Authors: Nati-Castillo, H A, Quintero, Juan Manuel, Molina, Oswaldo Aguilar, Arias-Intriago, Marlon, Melgar Muñoz, Fernando P, Izquierdo-Condoy, Juan S
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 31.07.2024
• Subjects: adult onset; cardiac rhabdomyoma; chest pain; echocardiography; Medicine; tuberous sclerosis; cardiac rhabdomyoma; tuberous sclerosis; chest pain; adult onset; echocardiography
• ISSN: 2296-858X; 2296-858X
• DOI: 10.3389/fmed.2024.1386089

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.