Introduction:

Fetal cardiac tumors are rare and generally have a good prognosis depending on location and size.

Objective:

To examine perinatal and postnatal outcomes along with ultrasound and genetic findings of fetal cardiac rhabdomyoma.

Methods:

This retrospective cohort study was conducted in a single tertiary center. Ten prenatally diagnosed cases of fetal cardiac rhabdomyoma were included in the study. The data obtained included maternal characteristics, gestational age at diagnosis, echocardiographic features including tumor size, number and location, other antenatal ultrasound findings, genetic and pathological examinations, gestational age at birth, neonatal outcomes, and postnatal long-term outcomes.

Results:

In half of the cases (five), multiple tumors were detected sonographically. Tumor sizes ranged from 5 to 38 millimeters (mm). Four (40%) of the cases had additional cardiac anomalies such as right ventricular hypoplasia, left ventricular hypoplasia and pericardial effusion. Additionally, hydrops fetalis was detected in three (30%) cases. One case died at 26 weeks gestation. One case was terminated at the request of the family due to the detection of a mutation in the tuberous sclerosis complex (TSC) gene. Hydrops fetalis was significantly more common in cases with fetal and neonatal deaths (60% vs. 0%; p=0.038). The TSC gene mutation was not associated with fetal and neonatal deaths. TSC gene mutation was detected in 4 of the cases (40%) and there was a family history in one of these cases (25%). Conclusion: Fetal cardiac rhabdomyomas can cause prenatal and postnatal deaths due to heart failure. Furthermore, fetal rhabdomyomas are associated with TSC regardless of family history.

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