Pediatric primary benign cardiac tumors: A 15-year review

Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group

“…14 Cardiac rhabdomyomas are by far the most common primary cardiac tumor in childhood. 15–16 After the advent of echocardiography, but before clinical genetic testing was available, studies estimated that up to 70% to 90% of children with rhabdomyomas have TSC, 17–19 and at least 50% of children with TSC have rhabdomyomas, 18 representing a significant increase in the proportion of cardiac rhabdomyomas attributed to TSC compared with historic clinical data. 20–22 In 1 study, Allan et al analyzed 52 cardiac tumor cases, among which 44 (86%) were rhabdomyomas.…”

“…23 Tumors are diagnosed more frequently in fetal series than in postnatal series, resulting in an increased sensitivity when examining fetal echocardiograms. 18–19 Cardiac rhabdomyomas tend to appear at 20 to 30 weeks' gestation, with the earliest diagnosis having been made at 15 weeks at the current technical limits of ultrasonography, 24 suggesting rhabdomyomas may be present earlier in development. The frequency of fetal detection is increasing dramatically; therefore, it is reasonable to anticipate that the rate of fetal diagnosis will increase significantly.…”

“…Tumors may obstruct inflow or outflow, which can cause ventricular dysfunction and heart failure, as well as redirection of flow across the foramen ovale. 19,25–26 Nearly 100% of fetuses with multiple rhabdomyomas have TSC, underscoring the practical importance of identifying additional tumors at the time of fetal assessment for diagnosis and prognosis. 17,27 In light of emerging human genetic and molecular knowledge, it is a possibility that the underlying pathogenesis of all rhabdomyomas is a result of a spectrum of TSC disease.…”

“…Excellent short‐ and long‐term results have been reported in multiple series, but cases of early death have been reported. 19,25–26 To date, late fetal surgical resection has not been reported, but ex utero intrapartum treatment technology suggests this may be feasible in select situations.…”

Pediatric Cardiac Tumors

“…Other common presentations include congestive heart failure, arrhythmia, or auscultated murmur detected from infancy all the way through adolescence. Echocardiography is the gold standard for diagnosis of a neoplasm in the heart [1].…”