Pediatr. praxi. 2021;22(3):212-216 | DOI: 10.36290/ped.2021.041

Heart rhabdomyoma as an early sign of tuberous sclerosis

MUDr. Mária Najdeková¹, MUDr. Simona Mlynárová¹, MUDr. Jan Pavlíček, Ph.D.^{1, 2}, MUDr. Pavla Hanzlíková, Ph.D.^{2, 3}, MUDr. Eva Štěpánová⁴, Romana Kaniová⁵, doc. RNDr. Radek Vrtěl, Ph.D.⁶

¹ Klinika dětského lékařství, FN Ostrava

² Lékařská fakulta, Ostravská univerzita, Ostrava

³ Ústav radiodiagnostický, FN Ostrava

⁴ Oddělení dětské neurologie, FN Ostrava

⁵ Oddělení lékařské genetiky, FN Ostrava

⁶ Ústav lékařské genetiky FN a LF UP Olomouc

The incidence of primary heart tumors in the paediatric population is low. Rhabdomyomas are the most common tumors, they typically occur as multiple lesions, they are usually asymptomatic and have a favourable cardiac prognosis. In the case of cardiac rhabdomyomatosis, there exists a substantial risk of developing tuberous sclerosis, a severe multisystem disease with a predominant involvement of the central nervous system. The clinical presentation of tuberous sclerosis includes organic epilepsy, mental retardation, behavioural disorders and abnormalities of other organs. Authors present 3 case reports with prenatally or early postnatally echocardiographically detected rhabdomyomas of the heart. All patients experienced postnatal spontaneous regression of heart tumors and, on the contrary, progression of other symptoms of tuberous sclerosis. Prenatal or postnatal echocardiographic detection of cardiac rhabdomyomas may contribute to the early diagnosis of this complex disease.

Keywords: heart tumor, rhabdomyoma, tuberous sclerosis.

Published: October 14, 2021  Show citation