Rhabdomyoma is an extremely uncommon benign soft tissue tumor that originates from skeletal muscle. It can be categorized into cardiac and extracardiac types based on its location. Extracardiac rhabdomyomas are especially rare and further classified into fetal, juvenile and adult subtypes according to their histological features. Adult rhabdomyomas mainly affect men aged 40 - 70 and while there is limited global data due to its rarity, it poses significant health concerns. Cardiac rhabdomyomas, often detected in infants and children, may disrupt heart function, potentially leading to arrhythmias and heart failure, which can be life - threatening.
The exact causes of rhabdomyomas remain unclear. Genetic factors may play a role, especially in cases associated with certain syndromes. Symptoms vary depending on the location. For cardiac rhabdomyomas, symptoms may include abnormal heart rhythms, shortness of breath and poor feeding in infants. Extracardiac rhabdomyomas may present as a painless mass in the affected area, which may cause discomfort or restrict movement if it grows large enough.
Currently, there are no specific biomarkers uniquely identifying rhabdomyomas. Diagnosis mainly relies on imaging techniques like MRI and CT scans to visualize the tumor's location and characteristics and histopathological examination after biopsy for a definitive diagnosis. Therefore, regular medical examinations are very important, including physical examinations and relevant imaging or biomarker tests, which can help detect any early signs of muscle related abnormalities. Early detection allows for prompt intervention, which may improve the prognosis.
In conclusion, rhabdomyomas, though rare, having a significant impact on health. Understanding their nature, symptoms and available diagnostic methods is crucial for early detection and appropriate management, which can improve the prognosis and quality of life for affected individuals.