Neonatal rhabdomyoma causing right ventricular inflow obstruction with duct‐dependent pulmonary blood flow: Successful stenting of PDA

Abstract

We describe an infant with the antenatal diagnosis of a large intracardiac rhabdomyoma causing tricuspid inflow obstruction. Postnatal cyanosis and arterial hypoxemia prompted commencement of intravenous prostaglandin E1 with immediate improvement in saturations. Clinical and genetic testing confirmed diagnosis of tuberous sclerosis. To secure ductal patency, two tandem coronary stents were implanted via an antegrade approach. Several episodes of long RP atrio-ventricular re-entrant tachycardia were observed. At 7½ months of age, the tumor was no longer obstructive to tricuspid inflow, ductal flow was highly restrictive and there was no recurrence of supraventricular tachycardia. ' 2007 Wiley-Liss, Inc.Key words: rhabdomyoma; tricuspid inflow obstruction; stent implantation; patent arterial duct; SVT CASE REPORT A female baby was born at term by vaginal delivery to a healthy 33-year-old mother who had one previous miscarriage. There was no family history of tuberous sclerosis (TS). Surveillance obstetrical ultrasound scans at 12, 18, and 22 weeks gestation were normal. At 36 weeks gestation, polyhydramnios, and a cardiac mass were detected. The fetal echocardiogram revealed multiple homogeneous well circumscribed tumors within the myocardial wall. The largest mass was attached to the tricuspid valve and measured 1.3 3 1 cm 2 ( Fig. 1A and B). There was tricuspid inflow acceleration to a peak velocity of 126 cm/s and abnormal inferior and superior vena caval Doppler flow patterns with increased A-wave reversal consistent with right ventricular inflow obstruction. Rhabdomyomas associated with TS were quoted as most likely diagnosis.No resuscitation was required at birth. Birth weight was 2.8 kg. Hyperoxia test at 1 hr of age demonstrated a preductal PaO 2 of 80 mmHg. At 3 hr of age, cyanosis with a transcutaneous oxygen saturation of 82% in room air prompted commencement of prostaglandin E1 (alprostadil) infusion with immediate improvement in oxygen saturations to 95%. Neonatal examination was unremarkable except an ejection systolic murmur at the left upper sternal border. No dysmorphic features or skin lesions were found.Electrocardiogram on admission demonstrated atrial enlargement, right ventricular hypertrophy, and no preexcitation. The postnatal echocardiogram confirmed presence of multiple rhabdomyomas in the right and left ventricular free wall, interventricular septum, and left atrial appendage. The largest tumor (Fig. 1C and D) was attached to the atrial surface of anterior tricuspid leaflet causing severe tricuspid inflow obstruction and right to left shunt across the patent foramen ovale. The rest of the cardiovascular anatomy was normal and there was a patent ductus arteriosus (PDA).

Everolimus: A Challenging Drug in the Treatment of Multifocal Inoperable Cardiac Rhabdomyoma

“…[6][7][8][9][10] Multifocal tumors are associated with tuberous sclerosis in 78% to 95% of rhabdomyoma cases. 8,11 Spontaneous regression occurs during the first 2 to 4 years in 33% of these cases. 1 Tuberous sclerosis is an autosomal dominant neurocutaneous disease characterized by the presence of mass lesions in various organs including the brain, skin, kidney, liver, lung, and heart.…”

Repair of tetralogy of Fallot after the regression of multiple rhabdomyomas in a patient with tuberous sclerosis

“…Significant ventricular inflow or outflow obstruction associated with hemodynamic instability, however, may require early surgical resection of the tumor. 3,4 In this case, it was deemed that systemic perfusion was maintained by right ventricular ejection and nonrestrictive interatrial communication, even though the LV mass itself may have caused LV inflow and outflow obstruction. Because huge masses in the LV precluded us from performing early primary repair of TOF, we elected to perform a systemic-pulmonary shunt to defer definitive surgery.…”

Literature review of international mammalian target of rapamycin inhibitor use in the non-surgical management of haemodynamically significant cardiac rhabdomyomas

“…Among a series of 33 patients, 3 23% (n = 7) required surgical intervention for left ventricular outflow tract obstruction without any complications. Ilina et al 7 reported successful patent ductus arteriosus (PDA) stenting in a baby with a large intracardiac rhabdomyoma causing tricuspid inflow obstruction leading to cyanosis and hypoxemia. PDA stent was performed on day 11 of life and allowed discontinuation of prostaglandin and discharged home.…”