Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review

Abstract

Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac tumors in clinical practice.

Current status of diagnosis and treatment of primary benign cardiac tumors in children

“…Male has a slight predominance, and usually single tumor. CF is associated with Gorlin syndrome (also known as neonatal basal cell nevus syndrome) (34), an autosomal dominant disorder caused by mutations in the PTCH1 gene. CF is usually homogeneous on echocardiography, brighter than the surrounding myocardium, often contain hyperechoic calcifications, and is usually single tumors with a clear border with the surrounding tissue.…”