Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus

Abstract

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by abnormal cell proliferation and tumor growth in a number CASE REPORTA 20-year-old primigravida was referred to our center at 23 weeks' gestation with a giant fetal cardiac tumor. Ultrasound examinations revealed a giant tumor mass engulfing the majority of the right ventricle and obstructing the right ventricular outflow tract (Figure 1). Additional tumors were diagnosed in the cavity of the left ventricle. No signs of pericardial effusion or hydrops were observed at the time of diagnosis, however, tricuspid regurgitation was present. The family history of TSC was positive and investigations revealed a splice-site

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

“…Some large cardiac rhabdomyomas could require surgical intervention (because of haemodynamic compromise), but oral administration of everolimus (mTOR inhibitor) may be also considered 11 . CNS pathology may be detected prenatally; therefore brain MRI examination of foetuses with cardiac rhabdomyomas is recommended 12 .…”

Unexpected enlargement of cardiac rhabdomyoma after spontaneous regression has begun in a newborn: A case report

“…Although rare, CRHMs account for up to 80% of fetal cardiac tumors (5). Approximately 80% of children with CRHM have clinical or radiologic findings or family history of TS (4).…”

“…After birth, it is expected CRHMs to regress partially or completely during the first year of life (5). Complete resolution of the CRHMs occurs at more than 80% of cases within infancy and early childhood (2).…”

“…According to our knowledge, our case is the first one that showed spontaneous re-enlargement after spontaneous regression in the literature. Conservative approaches remain as standard treatment for cardiac CRHMs in the absence of severe hemodynamic sequelae owing to the natural process of tumor regression over time (5). Although most CRHMs are asymptomatic; heart failure, arrhythmias, intracardiac blood flow obstruction and respiratory system problems related to CRHM are rarely reported depending on CRHM's Adress for correspondence: Özel Samsun Medicalpark Hastanesi Türkiş Atakum Samsun -Türkiye e-mail: rfnshn@yahoo.com Available at www.actaoncologicaturcica.com Copyright ©Ankara Onkoloji Hastanesi localization (9).…”

Giant cardiac tumours in the newborn: an unusual image

“…In symptomatic patients, the treatment option is a cardiac surgery, however, there is a high risk of mortality (13). Over recent years, more than dozen case reports of tumor regression after the application of the Everolimusu-mTOR inhibitor have been published (14,15) We present a case of a child with giant heart tumors (rhabdomyoma) in the course of TSC. According to the best of our knowledge these are one of the largest tumors described in the literature.…”