Hillori Vithalani and Arpit Parashar
Cardiac rhabdomyoma is the most common primary cardiac tumor in the neonatal period. Although generally benign and often regressing spontaneously, these tumors may be associated with significant hemodynamic compromise or underlying genetic syndromes, most notably tuberous sclerosis complex (TSC). We report a rare case of preterm twins with antenatally detected cardiac masses, one of whom was later genetically confirmed to have tuberous sclerosis. The contrasting outcomes highlight the variable clinical spectrum of this condition.
Conclusion: Antenatal detection of cardiac masses, particularly multiple rhabdomyomas, should alert clinicians to the possibility of tuberous sclerosis. Genetic confirmation aids in counselling and long-term management. The divergent outcomes in these twins—one surviving with neurodevelopmental impairment and the other succumbing to cardiac obstruction—illustrate the unpredictable nature and variable severity of tuberous sclerosis. A multidisciplinary approach involving neonatology, cardiology, neurology, and genetics is essential for optimal care and family guidance.
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