190 Left ventricle cardiac fibroma in patient with gorlin – goltz syndrome

Abstract

<h3>Introduction</h3> Gorlin – Goltz syndrome (basal cell nevus syndrome – NBCSS) is an autosomal dominant disorder that is clinically presented by basal cell carcinomas, odontogenic keratocysts, perforated cavities on the palms and soles, skeletal anomalies, and a typical number of other phenotypes, including occurrence of cardiac fibroma. The syndrome is caused by microdeletion of the long arm of chromosome 9, in the region q22.3-q31 which includes the PTCH tumor suppressor gene. The diagnosis is made clinically, through large and small criteria that include the already mentioned clinical characteristics. <h3>Case Report</h3> We will present the case of a 5 – year – old girl diagnosed with Gorlin – Goltz syndrome with the presence of fibroma in the left ventricular wall. The patient has an uneven psychomotor development and shows atypicalities in the field of socio-emotional functioning. Phenotypically, we find increased neurocranium, rough facial features, divergent strabismus, and a wider nasal root. The girl was initially hospitalized for the clinical presentation of heart failure: she was clinically tachydyspnoic, with audible crepitations in the lungs, enlarged liver, and pretibial edema. Echocardiographically, it was diagnosed with dilated cardiomyopathy, with an ejection fraction of 25%, while the formation of an unclear etiology was seen in the left ventricle. The patient was treated with anticongestive therapy with low molecular weight heparin and further treatment was performed. MRI of the heart showed a formation that according to radiological criteria corresponds to a large fibroma. Due to the opinion that dilated cardiomyopathy and fibroma with phenotypic characteristics could be parts of systemic disease, molecular karyotyping was performed which found microdeletion of the long arm of chromosome 9 in the q22.3 region, which includes the PTCH gene that regulates cell growth and functions as a tumor suppressor gene. Haploinsufficiency of this gene has been described as Gorlin – Goltz syndrome, which is characterized by phenotypic traits such as those found in our patient. Among patients with Gorlin-Goltz syndrome, 10% develop cardiac fibroma with the most common localization in the left ventricular cavity. Symptoms of cardiac fibroma depend on the size of the tumor, the involvement of the conduction system, and the possible existence of intracavitary obstruction. The patient we present has an extensive tumor located intramurally in the anterolateral wall of the left ventricle, measuring 5.8x4.8 cm. Measured values of cardiac pressures obtained by invasive cardiac treatment indicate impaired systolic and diastolic heart function and increased pulmonary pressure, as a result of dilated cardiomyopathy with clinical signs of heart failure. <h3>Discussion</h3> The presence of dilated cardiomyopathy with markedly impaired systolic function may be secondary to the tumor or as primary disease, that is why genetic processing of cardiomyopathy is ongoing. Cardiac fibroma can be treated by surgical resection, but in a situation of severely impaired systolic function, transplantation treatment is more likely, with the risk of immuosuppression in a patient with a tumor suppressor gene disorder.