Research Day
CARDIAC FIBROMA WITH CARDIAC ARREST: A RARE CLINICAL PRESENTATION OF GORLIN SYNDROME IN AN 8-MONTH-OLD INFANT
Document Type
Abstract
Date
2021
Abstract
Introduction: Pediatric cardiac tumors are rare, often benign and carry associations with genetic conditions.They are primarily composed of connective tissue and fibroblast and can be symptomatic due to intracavitary obstruction, inflow and outflow tract obstruction, coronary artery compromise, thromboembolic events, conduction defects, and can also lead to sudden death.
Case History: In this case, we report an 8-month-old female presented to pediatric cardiology office for cardiac evaluation given family history of Gorlin syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, found to have a large 4 x 4 x 6 cm fibroma in the apical lateral free wall of the left ventricle and later presented to the ER with cardiac arrest.
Conclusion: NBCCS is inherited in an autosomal dominant manner. NBCCS is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, multiple and/or early-onset basal cell carcinomas (BCCs) usually from the third decade onward. Cardiac fibromas, especially when identified in infancy, should raise clinical suspicion to evaluate for NBCCS. Early clinical recognition of NBCCS would facilitate the timely identification of basal cell carcinoma or medulloblastoma and implementation of surveillance guidelines. If cardiac fibromas are left untreated, there is an increase in the risk of fatality, particularly due to lethal ventricular arrhythmia. Early surgical intervention remains the cornerstone of fibroma management.Screening for cardiac fibromas is recommended in patients with family history of Gorlin syndrome and timely surgical intervention is crucial to prevent adverse events that can reach sudden cardiac death.