Cardiac Tumor in Newborn as the Marker of Tuberous Sclerosis: Clinical Case

Background. The most common cardiac tumor in children is rhabdomyoma. Its frequency is 58.3% in the early neonatal period. Rhabdomyoma is associate with tuberous sclerosis pretty often (50-86% of all cases) and it be its diagnostic marker.Clinical case description. This article presents case study o...

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Main Authors: Elena I. Naumenko (Author), Valeria G. Anufrieva (Author), Irina A. Grishutkina (Author)
Format: Book
Published: Union of pediatricians of Russia, 2020-06-01T00:00:00Z.
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Summary:Background. The most common cardiac tumor in children is rhabdomyoma. Its frequency is 58.3% in the early neonatal period. Rhabdomyoma is associate with tuberous sclerosis pretty often (50-86% of all cases) and it be its diagnostic marker.Clinical case description. This article presents case study of the newborn from the mother with burdened obstetric and gynecological anamnesis, type 1 diabetes, nicotine addiction. Multiple mass lesions were revealed in the child's heart on the 31 st week of gestation. On examination: systolic murmur over the heart region, fibrous nodules on the skin all over the body up to 1-5 mm in diameter, indurated on palpation. Diagnosed echocardiographically: multiple attached, round masses were revealed in the cavity of left ventricle of 7.9×4.1 mm in size, in outflow track of left ventricle (near the aortic root) - 9.3×4.8 mm, in the cavity of right ventricle - 4.3×3.2 mm, in the cavity of right auricle - 5.1×5.0 mm. Pathologic activity of cardiac conduction system was presented only by single supra-ventricular and ventricular extrasystoles due to the results of 24-hour monitoring.Conclusion. Children with cardiac rhabdomyoma diagnosed in prenatal period are threatened by tuberous sclerosis, thus, complex dynamic observation and molecular genetic testing is needed.
Item Description:1727-5776
2500-3089
10.15690/pf.v17i2.2101