Medicinski fakultet u Nišu
Introduction: Rhabdomyomas are the most common benign cardiac neoplasm that often presents in neonatal period and infancy. Its association with tuberous sclerosis is well known. Early diagnosis and treatment of rhabdomyoma is crucial for optimal patient outcomes.
Objective: We present a case of a 37-week and 1-day old neonate with a massive left ventricular rhabdomyoma, which was diagnosed through echocardiography after signs of respiratory distress.
Material: The patient was weaned off mechanical ventilation and oxygen therapy, but mild left ventricular dysfunction was noted during follow-up echocardiography. The patient was referred for mTOR inhibitor therapy.
Results: This case highlights the importance of timely prenatal diagnosis through fetal echocardiography. Adequate planning, perinatal monitoring, and multidisciplinary team involvement can improve patient outcomes. We emphasize the importance of introducing fetal echocardiography as a screening tool for the diagnosis of rhabdomyoma in neonates.
Conclusion: The early detection of cardiac tumors and other abnormalities through fetal echocardiography, can lead to prompt and effective management of neonates with cardiac issues. Therefore, reducing morbidity and mortality rates in neonates.