Outcome of antenatally diagnosed cardiac rhabdomyoma: Case series and a meta-analysis

Objectives: Rhabdomyoma, the most common primary fetal cardiac tumor, is often associated with tuberous sclerosis (TS). We aimed to evaluate outcome in cases diagnosed with fetal cardiac rhabdomyoma. Methods: This study presents 11 cases with fetal cardiac rhabdomyoma. In addition, all relevant published cases of antenatally diagnosed cardiac rhabdomyoma since 1982 were identified from MEDLINE. We evaluated the following risk factors associated with clinical impact and perinatal outcome: family history of TS, gestational age at diagnosis, tumor size, site and number of tumors, tumor progression, and associated intracardiac and extracardiac anomalies. Results: In this meta-analysis, 138 cases, including nine newly added by us, were categorized into Group A (107 live babies) and Group B (16 neonatal deaths and 15 intrauterine fetal deaths). Univariate analysis showed that large cardiac tumors (P < 0.0001), fetal dysrhythmia (P < 0.0001) and hydrops (P < 0.0001) were strong predictors of neonatal outcome. Tumor size ≥ 20 mm (relative risk (RR), 20.6; 95% CI, 2.2-195.9; P = 0.009) and fetal dysrhythmia (RR, 13.6; 95% CI, 2.9-62.3; P = 0.001) were significantly associated with neonatal morbidity. TS, present in 85/133 (63.9%) cases, was significantly associated with multiple cardiac tumors (P < 0.0001) and family history of TS (P = 0.02). Conclusions: Large tumor size and hydrops are significantly associated with poor neonatal outcome, whereas family history of TS and multiple fetal cardiac tumors are associated with TS. Any sonographic detection of a fetal cardiac tumor should warrant further investigation for the possible presence of associated disorders.