Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus

Background: The main objective of this retrospective analysis in a large tertiary center was the clinical outcome of prenatally diagnosed cardiac rhabdomyomas as well as the identification of factors influencing fetal prognosis. Methods: A total of 45 cases of fetuses with prenatally suspected rhabdomyoma and their clinical outcome were analyzed retrospectively. A review of the literature was also performed. Results: In five cases, after a tuberous sclerosis complex (TSC) mutation had been confirmed, termination of pregnancy was chosen. In 30 cases postnatal data were available. In 93% TSC was confirmed clinically or by mutational analysis. Two thirds of fetuses presented with multiple tumor while one third presented with a solitary tumor. In two fetuses mild pericardial effusions were observed. Another three fetuses presented with extrasystoles prenatally. No hydrops fetalis or fetal perinatal demise were observed. After birth 41% of the children suffered from arrhythmia including supra- and ventricular tachycardia, Wolff-Parkinson-White syndrome and atrioventricular block. One child received a Fontan procedure with Glenn anastomosis. Another child with a dilatative cardiomyopathy and a left ventricular ejection fraction of 15% died. Fifty-two percent of the children with TSC suffered from epilepsy ranging from absence epilepsy and West syndrome to generalized seizures with a frequency of up to 40 per day. Two children underwent neurosurgery to remove the epileptogenic focus. One child suffered from TSC and Lesch-Nyhan disease. In another case Beckwith-Wiedemann syndrome was identified as the causative disorder. Conclusion: Rhabdomyoma are rare, benign tumors. There is an association with TSC. In the majority of cases rhabdomyoma are not hemodynamically relevant and do not increase in size. The quality of life of affected patients is impaired particularly due to epilepsy and psychomotor retardation.