Cardiac Rhabdomyoma

Rhabdomyomas are the most frequent of primary cardiac tumors in children and have a close association with tuberous sclerosis. The neoplastic striated muscle can cause dangerous heart arrhythmias and death. Protheragen provides an integrated service platform that meets the demand of rare cardiovascular complications, such as cardiac rhabdomyoma, one-stop drug research and development solution.

Introduction to Cardiac Rhabdomyoma

A cardiac rhabdomyoma is a noncancerous (benign) tumor in the walls of your heart. Cardiac rhabdomyomas are relatively uncommon. But they're also the most frequent type of fetal cardiac tumor. Rhabdomyomas, although generally benign, have been reported with cardiomegaly, congestive heart failure, or sudden perinatal death, usually size-dependent and also depending on local invasion. At autopsy, cardiac rhabdomyomas are characterized by a phenotype, which is defined by combined macroscopic and microscopic features. Grossly, rhabdomyomas appear as single or multiple cardiac masses that predominantly involve the ventricles.

Fig.1 Assessment of an individual with cardiac rhabdomyoma. (Nardi, E., et al., 2025)

Pathogenesis of Cardiac Rhabdomyoma

Cardiac rhabdomyomas are probably due to genetic mutations that occur before birth, these alterations cause tuberous sclerosis. People with tuberous sclerosis have genetic mutations in either their TSC1 or TSC2 gene. The TSC1 and TSC2 genes are tumor suppressors. Tuberous sclerosis accounts for 80-90% of all cardiac rhabdomyomas. Not all children have tuberous sclerosis, but they can develop cardiac rhabdomyoma. In those instances, the reason for the tumor is unclear.

Fig.2 Histology of cardiac rhabdomyoma in a fetus. (Nardi, E., et al., 2025)

Therapeutics Development for Cardiac Rhabdomyoma

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Through our comprehensive solution, including skills and services ranging from diagnostics and therapeutics to the creation of complex disease models, we enable novel therapies to develop faster. We are committed to innovation in preclinical research as well, which includes full pharmacokinetic analysis essential to understanding the drug absorption, distribution, metabolism, and excretion. We also focus on independent drug safety assessment services to ensure potential therapeutics are safe to a high standard before advancing to additional trials.

Therapeutic Development Services

Diverse Platforms

• Small Molecule Drug Development
• Gene Therapy Development
• Therapeutic Peptide Development

• Cell Therapy Development
• Therapeutic Antibody Development
• Therapeutic Protein Development

Animal Model Development for Cardiac Rhabdomyoma

At Protheragen, we recognize that robust and custom-designed animal models are key to the success of your preclinical research, drug discovery, and therapeutic development programs for cardiac rhabdomyoma. Our bespoke animal model development solutions start from the concept and the design through to the delivery of the validated animal model and post-study support.

Genetically Engineered Animal Model

Gene-engineered animal models for cardiac rhabdomyoma involve creating genetically modified organisms that mimic the human condition, often by introducing or altering specific genes linked to the disease.

• TSC1^+/− Model

• Other Models

Choosing Protheragen as your partner means gaining access to unparalleled expertise and a streamlined approach to cardiac rhabdomyoma drug development. Our comprehensive knowledge and expertise in cardiac rhabdomyoma, along with the depth of our experience and level of therapy, give you a distinct competitive edge. If you are interested in our services, please contact us.

Reference

• Nardi, Eleonora et al. "Foetal cardiac rhabdomyoma due to paternal TSC1 Mutation: a case report and literature review." Pathologica 117.1 (2025): 33-38.