Fetal cardiac tumors: prenatal diagnosis, management and prognosis in 18 cases

Abstract

Objective: To evaluate the long-term follow-up of patients with fetal cardiac tumors (FCTs), and to review the literature regarding advances in diagnosis and management of FCTs in the last decade. Material and Methods: In this retrospective study, pregnant women referred to a single center maternal-fetal medicine unit between 2013 and 2018 for advanced ultrasonography, were reviewed. Pediatric cardiology counseling was offered to women whose fetuses had FCTs. All patients were evaluated according to revised diagnostic criteria for tuberous sclerosis complex (TSC). Medical treatment was administered to patients with FCTs ≥30 mm or if they were symptomatic. Everolimus therapy at a dose of 2x0.25 mg twice a week for three months was started in the postnatal period. Results: Out of the 75,312 patients referred 18 (0.024%) were diagnosed with FCTs. Six were referred with fetal arrhythmias and the others were diagnosed with FCTs during routine follow-up. Ten patients (55%) with FCTs were diagnosed with TSC. All tumors were assessed to be rhabdomyoma. Mean tumor diameter in fetuses with TSC was significantly larger than those without TSC (29.8±14.1 mm versus 9.3±4.8 mm, respectively; p=0.004). All patients (n=2) who received medical therapy had a diagnosis of TSC and multiple FCTs and a reduction in tumor size occurred. Tumor size decreased in eight patients spontaneously during follow-up, but increased in one patient who had multiple locations but no TCS. No change in size was observed in the remaining seven cases. None of the fetuses died during the 1-5 year follow-up period. Conclusion: Rhabdomyoma are usually multiple and associated with TSC. Rhabdomyomas with TSC are larger, but most regress spontaneously or respond well to medical treatment after birth, and have an excellent long-term prognosis.

Resultados perinatais e seguimento em longo prazo de tumores cardíacos fetais: estudo de coorte histórica de 30 anos

“…Embora a maioria dos tumores cardíacos fetais seja rabdomioma, considerado histologicamente benigno, sua morbidade reside no fato de ser associado à esclerose tuberosa, doença profundamente debilitante, responsável por causar convulsões em 80% dos pacientes (incluindo espasmos infantis em, aproximadamente, 1/3) e atraso no desenvolvimento (incluindo espectro autista distúrbios) em mais de 60% dos casos 18 . Embora em nossa série a associação entre rabdomioma cardíaco e esclerose tuberosa tenha sida de 72,7%, semelhante aos resultados previamente descritos [8][9][10][11][12]18 , reconhecemos que este número poderia ser maior se tivéssemos tido acesso aos métodos de diagnóstico genético por meio da análise de DNA para os genes TSC1 e TSC2 22,23,46,47…”

“…Rabdomiomas são considerados tumores modulados por hormônios, por conta da redução de suas dimensões no pós-parto 12 . O status pró-estrogênico na gestação pode contribuir para o crescimento e surgimento de novo de rabdomiomas cardíacos em mulheres adolescentes 27 .…”

“…Os tumores cardíacos, quando não associados a outras malformações cardíacas, possuem taxas de óbito intrauterino e pós-natal, e variam de 0% a 11% 4,7-9 e 0% a 30% 4,7,8,[10][11][12] , respectivamente.…”

“…Na última década, houve um aumento notável no diagnóstico fetal de tumores cardíacos primários. Parte desse aumento pode ser atribuído aos avanços nas técnicas de imagem que conseguem diagnosticar e classificar com alta acurácia os vários tipos histológicos de tumor [11][12][13][14] .…”

“…Poucos são os estudos que avaliam os resultados perinatais e em longo prazo dos fetos com tumores cardíacos 4,[8][9][10]12 . O presente estudo tem como objetivo contribuir com esta lacuna, relatando dados referentes à morbidade e mortalidade, bem como, os fatores que influenciaram nesses desfechos.…”