Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature

Abstract

Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size of the tumor. Sixty-four percent of children with cardiac fibroma, the second most common benign cardiac tumor in children, have ventricular arrhythmias, affecting therapeutic management and risk profile of these children. We report on two siblings with cardiac fibromas whose clinical presentations differed depending on their locations and size of the tumors. The first child, a three-year-old girl, was diagnosed with a cardiac fibroma in the left ventricle at the age of 8 months after surviving resuscitation due to ventricular fibrillation. Secondary prophylactic implantation of an ICD was performed. On propranolol, no further malignant arrhythmias have occurred to date. The seven-month-old brother was diagnosed postnatally with a cardiac tumor adjacent to the right ventricle. A few weeks after birth, the boy had refractory supraventricular tachycardia and ventricular arrhythmia that only resolved with amiodarone. In genetic testing, Gorlin-Goltz syndrome was diagnosed in both children. Conservative pharmacological therapy is a therapeutic strategy for asymptomatic patients with cardiac fibromas. The anti-arrhythmic medication depends on the location of the tumor. Implantation of an ICD should be performed in cases of malignant arrhythmias. In rare cases, there is an association between cardiac tumors and genetic syndromes, such as Gorlin-Goltz syndrome. These should always be considered when such a tumor is diagnosed.

Keywords: Cardiac arrhythmias; Cardiac fibroma; Gorlin–Goltz syndrome; Implantable cardioverter-defibrillator.

Fig. 1

echocardiogram girl. Legend: Two-dimensional echocardiogram showing the tumor arising from the left ventricular wall (modified subcostal view, left) and infiltration of the tumor into the papillary muscle of the mitral valve (parasternal long axis, right)

Fig. 2

Cardiac magnetic resonance imaging girl. Legend: Cardiac magnetic resonance imaging showing an intracardiac iso- to hypointense mass in the left ventricle in the native T1w-weighted sequence

Fig. 3

Postnatal two-dimensional echocardiogram. Legend: Four-chamber view showing a mass arising from the right ventricular wall

Fig. 4

Cardiac magnetic resonance imaging. Legend: Cardiac magnetic resonance imaging showing an isointense mass on the lateral wall of the right ventricle in the T1-weighted sequence