OP35.03: Fetal cardiac rhabdomyoma: short‐term and long‐term outcome

Abstract

Objectives: Rhabdomyoma is the most common type of cardiac tumor in fetuses and is often associated with tuberous sclerosis complex (TSC) with neurologic sequelae. The purpose of this study is to investigate short-term and long-term outcome of fetal cardiac rhabdomyoma. Methods: We analyzed the clinical characteristics of 23 cases prenatally diagnosed with cardiac rhabomyomas on fetal echocardiography at Asan Medical Center between January 1998 and December 2009. We performed postnatal workup including brain magnetic resonance imaging (MRI), echocardiography, abdominal ultrasonography and molecular genetic analysis to confirm the presence of cardiac rhabdomyomas associated with or without TSC. Results: Among 23 cases, 17 cases (74%) had available outcome and 6 cases (26%) were lost to follow-up. 1) The survival rate was 100% (17/17). 2) Among 17 cases, while spontaneous tumor regression occurred in 11 cases (65%), no change in tumor size and number was observed in the remaining 6 cases (35%). 3) There was no evidence of long-term cardiac dysfunction due to remnant rhabdomyomas, regardless of tumor size. 4) TSC was revealed in 9 patients (53%), of whom four (44%) showed neurodevelopmental morbidities. 5) Among 4 patients with neurologic impairment, three (75%) had TSC gene (TSC1/TSC2) mutation. 6) Seven (78%) of 9 TSC cases were non-familial. Conclusions: The overall outcome of isolated cardiac rhabdomyomas was favorable. We suggest that systematic evaluation of TSC be performed even in cases of cardiac rhabdomyomas without family history of TSC. Molecular diagnosis of TSC1 and TSC 2 might be helpful in predicting short-term and long-term neurodevelopmental outcome.