CARDIAC RHABDOMYOMAS

Despite the rarity of cardiac rhabdomyomas (CR) and the absence of metastasis, the outcomes of the neoplasm can be fatal. Objective. To describe the clinical and instrumental picture of CR and to formulate recommendations for the diagnosis and management of patients. Subjects and methods. Seventeen CR patients (8 boys and 9 girls) whose median age was 2 months (0.1-360 months) were examined. The diagnosis was based on the results of a clinical and instrumental observation and on those of surgical treatment with the histological verification of the type of a distant neoplasm (n=2), postmortem (n=1) and molecular genetic studies (n=1). Results. The disease manifested in early childhood; it was detected during a family examination in a mother in one case. The clinical picture showed neurocutaneous syndrome, seizures (n=5), marfanoid habitus, renal angiolipomas and cysts (n=3), hamartomas of the optic disc (n=3), and paracortical foci of demyelination (n=2). Tuberous sclerosis (TS) was diagnosed in 11 patients; a purposeful examination for CR revealed a heart tumor in 7 of the children with TS. The common cardiac symptoms were circulatory insufficiency, cardiac arrhythmia, and conduction disorders; the progressive growth of the tumor was accompanied by impaired coronary blood flow. Echocardiography (EchoCG) is the leading diagnostic method. Single small rhabdomyoma nodules are rare, mainly multiple and widespread neoplasms, were recorded. Conclusion. CR is often accompanied by TS; there may be family cases. Multiple and widespread tumors, rhythm and myocardial contraction disturbances are unfavorable prognostic factors. EchoCG is a determining diagnostic and follow-up technique.

oncology, heart, tumors, rhabdomyoma, clinical presentations, genetics, diagnosis, management