Echocardiographic evaluation of cardiac rhabdomyoma in infants and children

Abstract

PURPOSE: The objective of this study was to demonstrate the clinical presentation, echocardiographic findings, and morbidity and mortality rates for cardiac rhabdomyoma in Chinese infants and children by using echocardiography. METHODS: Two-dimensional echocardiography was performed at our institution from 1992 through 1999 on 12,800 children under 15 years of age. The diagnoses of cardiac rhabdomyoma were made primarily by echocardiography based on the presence of multiple tumors, cardiac tumors associated with tuberous sclerosis (TS), or histopathologic examination of surgical specimens. All patients were evaluated with 2-dimensional and Doppler echocardiography and then on follow-up examination every 3-6 months. Complete tumor regression was defined as no tumor visible by echocardiography. Partial tumor regression was defined as a decrease in tumor size of at least 15% from the previously measured size. RESULTS: A total of 29 tumors were found in 11 patients, 8 of whom had either TS or a family history of TS in 1 or more first-degree relatives. There were 9 boys and 2 girls 1 day-6.5 years old; (mean, 1.1 years). Three patients (newborns with heart failure) died, 2 after emergency surgery and 1 of intractable heart failure. The remaining 8 patients were managed conservatively and monitored for a mean duration of 3.3 years. Follow-up studies revealed that, of the 22 tumors in these 8 patients, 7 completely regressed, 7 partially regressed, and 8 remained stable. Our results showed no relationship between the tumor location and the regression rate (p = 0.34). CONCLUSIONS: Cardiac rhabdomyoma often presents in TS patients with no major arrhythmia or hemodynamic obstruction. However, in symptomatic neonates with or without TS, cardiac rhabdomyoma is usually fatal. Meticulous prenatal screening and routine echocardiographic examinations of patients with TS can reveal subclinical or clinically occult cardiac rhabdomyomas.