Dolunay GÜRSES, A. Ruhi ÖZYÜREK, Zülal ÜLGER, Ertürk LEVENT

Fetal ekokardiyografi ile kalpte rabdomiyomların saptandığı tuberosklerozlu bir olgu sunumu

Tuberoskleroz başlıca merkezi sinir sistemi, deri, retina, böbrek ve kalp olmak üzere birçok sistemi tutan bir hastalıktır. En sık rastlanılan kalp tümörleri rabdomiyomlardır. Gebeliğinin 36. haftasında fetal aritmi nedeniyle gönderilen hastamızda yapılan fetal ekokardiyografi ile çok sayıda kalp içi kitle saptanarak kalpte rabdomiyom düşünüldü ve tuberoskleroz açısından araştırıldı. Doğum sonrası kraniyal manyetik rezonans görüntülemesinde subepandimal çok sayıda kalsifik nodüller ve beynin beyaz cevherinde periventriküler ve subkortikal tuberlerin gözlenmesi ile tuberoskleroz tanısı kesinleştirildi. Rabdomiyomlar hastamızda hemodinamik bozukluğa yol açmadığından cerrahi yaklaşım düşünülmedi. İzleminde rabdomiyomların küçüldüğü ve aritmisinin tedavi gerektirmeksizin gerilediği gözlendi. Bu olgu sunumu ile fetal ekokardiyografide kalp içi kitle saptanan olgularda, tuberoskleroz tanısının düşünülmesi gerektiği vurgulanmak istendi.

A case report of tuberous sclerosis with cardiac rhabdomyomas diagnosed antenatally by fetal echocardiographyn

Tuberous sclerosis is a multisystem disease, involving primarily the skin, the brain, the kidneys, the heart and the eyes. The most frequent cardiac tumor is rhabdomyoma. In our patient who was referred to our hospital due to fetal arrhythmia, multiple intracardiac masses were detected by fetal echocardiography performed in the 36th week of pregnancy. Cardiac rhabdomyoma was considered and the baby was investigated for tuberous sclerosis. The diagnosis of tuberous sclerosis was established by the presence of multiple subependymal calcific nodules and periventricular and subcortical tubers in the postnatal magnetic resonance imaging. Since the rhabdomyomas had not caused hemodynamic impairment, surgical treatment was not considered. The patient was followed up and we observed that rhabdomyomas regressed and arrhythmia decreased without any medical treatment. We wanted to point out that the diagnosis of tuberous sclerosis should be considered in cases presenting with intracardiac masses on fetal echocardiography.

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