Genetic cardiac tumor

Genetic cardiac tumor refers to a group of rare neoplasms that arise within the heart and have a hereditary or genetic basis. These tumors can be benign or malignant and may occur as isolated findings or as part of broader genetic syndromes. The most well-known genetic cardiac tumors include cardiac rhabdomyomas, which are strongly associated with tuberous sclerosis complex (TSC), and cardiac myxomas, which can occur in the context of Carney complex. Cardiac fibromas may also have genetic underpinnings, sometimes associated with Gorlin syndrome (nevoid basal cell carcinoma syndrome). These tumors primarily affect the cardiovascular system but, depending on the underlying syndrome, may be associated with abnormalities in the skin, brain, kidneys, and endocrine organs. Key symptoms depend on the tumor's size, location, and type, and may include heart failure, arrhythmias (irregular heartbeats), obstruction of blood flow within the heart chambers, embolic events (such as stroke), syncope (fainting), and sudden cardiac death. In neonates and infants, cardiac tumors may be detected prenatally by fetal echocardiography or may present with heart murmurs, cyanosis, or hydrops fetalis. Some cardiac tumors, particularly rhabdomyomas in tuberous sclerosis, may spontaneously regress during childhood, while others such as fibromas or myxomas may require surgical intervention. The treatment landscape for genetic cardiac tumors varies by tumor type and clinical severity. Observation with serial echocardiography is appropriate for asymptomatic or regressing tumors. Surgical resection is the primary treatment for symptomatic tumors causing hemodynamic compromise or arrhythmias. In tuberous sclerosis-associated rhabdomyomas, mTOR inhibitors such as everolimus have shown efficacy in reducing tumor size. Management also involves treating the underlying genetic syndrome and screening for associated manifestations. Genetic counseling is recommended for affected families to assess recurrence risk and guide surveillance strategies.

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