DIAGNOSIS AND FOLLOW‐UP OF FETAL CARDIAC TUMORS

Background: Cardiac tumors in childhood are rare, although they would probably appear with greater frequency in fetal life upon closer examination during obstetric ultrasound studies. Prevalence is approximately 0.13%, as reported by fetal echocardiographic studies. We sought to determine the prevalence and natural history of cardiac tumors in patients referred to our laboratory for fetal echocardiography (FE). Methods: Between May 1998 and May 2003, five fetuses with cardiac tumors have been sent to FE out of 8,589 obstetric echographic studies. Gestational age varied from 20 to 34 weeks and maternal age from 19 to 38 years. Results: Prevalence of fetal cardiac tumors was 5 out of 8,589 fetuses: 0.05% in the general population, and 5 of 66: 7.5% of congenital heart disease. Two patients presented with multiple rhabdomyomas in the left venticle (LV), interventricular septum (IVS), and left ventricular outlet; they also had tuberous sclerosis (TS) with intracerebral tumors detected by magnetic resonance imaging (MRI) and cardiac tumors regressed during the first year of life and were asymptomatic. Another fetus with a single tumor with a rhabdomyoma echocardiographic appearance with attachment at the IVS and with a 50-mmHg LV outlet gradient did well in postpartum, and at 5 months of life the mass became smaller and the gradient decreased to 35 mmHg. One patient with a large LV mass, which in the echo appeared as fibroma, required early surgery at 10 days; the tumor was almost completely resected, and 4 years later the small residual mass has not grown. Histopathological exams revealed cardiac fibrosarcoma. The last fetus, with a single intraseptal tumor, which also appeared as a large fibroma in the echo and that had increased in size after birth, died at 7 months with low cardiac output. MRI did not identify brain tumors. Autopsy was not authorized by the parents. All the prenatal diagnoses were confirmed after birth. Conclusions: (1) Prevalence of fetal cardiac tumors in our hospital was 0.05% and represented 7.5% of congenital heart disease in a 5-year period; (2) the majority were rhabdomyomas with spontaneous regression after birth; (3) multiple rhabdomyomas were associated with TS; (4) no deaths occurred during fetal life in this series, one died at 7 months due to progresive invasion of the LV cavity and another patient required surgery to relieve the obstruction; (5) fetal echocardiography permits an accurate diagnosis, which allows for pregnancy follow-up and parental counselling.