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Everolimus for Cardiac Rhabdomyomas in Neonate with Tuberous Sclerosis and Significant Arrhythmias
Session:
Casos Clínicos: Arritmias e Dispositivos Cardíacos
Speaker:
Marisa Pereira
Congress:
CPC 2024
Topic:
C. Arrhythmias and Device Therapy
Theme:
04. Arrhythmias, General
Subtheme:
04.4 Arrhythmias, General – Treatment
Session Type:
Sessão de Casos Clínicos
FP Number:
---
Authors:
Marisa Pereira; Tiago Magalhães; Ana Vilan; Joana Pimenta; João Antunes-Sarmento
Abstract
<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri"><span style="color:#000000"><span style="font-family:"Calibri Light"">Cardiac rhabdomyomas are the most common neonatal intracardiac tumors and the main feature of tuberous sclerosis complex (TSC). Regression without intervention is possible, and surgical resection is reserved for significant arrhythmias or obstruction. The use of everolimus, an mTOR inhibitor, while infrequent, shows potential benefits, particularly for high-risk patients with life-threatening arrhythmias or hemodynamic compromise.</span></span></span></span></p> <p style="text-align:justify"> </p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri"><span style="color:#000000"><span style="font-family:"Calibri Light"">We present the case of a term male neonate delivered via cesarean-section, to a healthy woman, due to fetal bradycardia. Fetal echocardiogram (performed in the third trimester) and all obstetric ultrasounds were normal. The delivery was unremarkable, with Apgar scores of 8 and 9 at 1 and 5 minutes.</span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri"><span style="color:#000000"><span style="font-family:"Calibri Light"">After birth, the neonate still exhibited bradycardia, rapidly progressing to supraventricular tachycardia (SVT) before spontaneously returning to sinus rhythm (SR) within hours. An electrocardiogram revealed sinus bradycardia (approximately 90 bpm) with no other significant findings. Transthoracic echocardiography revealed multiple rhabdomyomas, including one on the right atrium, at the entrance of the superior vena cava (SVC), near the sinoatrial node, potentially contributing to the bradycardia.</span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri"><span style="color:#000000"><span style="font-family:"Calibri Light"">On the same day, a transfontanelar ultrasound identified cortical tuberomas, and an ophthalmological evaluation revealed a retinal hamartoma, leading to the diagnosis of TSC.</span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri"><span style="color:#000000"><span style="font-family:"Calibri Light"">Despite an initially stable period, on the seventh day, the neonate resumed frequent SVT episodes (approximately 280 bpm) while maintaining hemodynamic stability. Transient reversion to SR with adenosine suggested the likelihood of atrioventricular re-entry tachycardia via a concealed accessory pathway, the most common cause of SVT in infancy.</span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri"><span style="color:#000000"><span style="font-family:"Calibri Light"">The presence of baseline bradycardia, likely due to the rhabdomyoma on the entrance of the SVC, posed treatment challenges for the tachyarrhythmia. Management involved low-dose propranolol and flecainide, as well as everolimus. After approximately three months of mTOR inhibitor treatment, complete regression of cardiac rhabdomyomas was achieved, leading to SR with an appropriate heart rate for the patient's age, under antiarrhythmic therapy with propranolol and flecainide.</span></span></span></span></p> <p style="text-align:justify"> </p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri"><span style="color:#000000"><span style="font-family:"Calibri Light"">This case underlines the importance of a comprehensive approach in neonatal cardiac care, showing the potential advantages of everolimus in managing life-threatening arrhythmias and hemodynamic challenges. Early and precise diagnosis is crucial for tailored interventions that yield favorable results in complex clinical scenarios.</span></span></span></span></p>
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