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We report the case of an 8-month-old male infant presenting with life-threatening ventricular tachycardia. Echocardiography revealed a left ventricular tumor. The tumor was resected through a left ventriculotomy, and the left ventricle was reconstructed after a partial ventriculectomy. Histologic investigation showed a completely resected benign fibroma. The 30-year-old mother was known to have nevoid basal-cell carcinoma syndrome, which can be associated with cardiac fibromas. We believe that this is an interesting addition to the medical literature.
Many complications have been reported in association with nevoid basal-cell carcinoma syndrome, also known as Gorlin-Goltz syndrome.1 (According to Robert Gorlin, the 1st term should be preferred.2) The nevoid basal-cell carcinoma syndrome is inherited in an autosomal-dominant manner. Basal-cell carcinomas and jaw cysts occur in most patients by the age of 40 years.1 Lesser-known manifestations of the disorder are ovarian calcifications or fibromas, medulloblastomas, and—in 3% to 5% of the patients—cardiac fibromas.2
Cardiac fibromas are generally not considered part of the syndrome; they are judged to be minor diagnostic criteria for the condition.1 Cardiac fibroma has been documented2 but has received little attention.
We report the case of a 3,970-g boy who had been delivered by cesarean section after an uncomplicated pregnancy. Physical examination revealed an enlarged occipitofrontal circumference and left-handed syndactyly between DIII and DIV. Further investigations were unproductive. There was no heart murmur.
The patient's 30-year-old mother had a known nevoid basal-cell carcinoma syndrome. The boy presented with signs typical of that syndrome.
At the age of 8 months, the infant experienced ventricular tachycardia and polymorphic multifocal premature ventricular contractions, and the onset of new systolic murmur. The electrocardiogram showed sinus rhythm (heart rate, 125 beats/min) intermittent with ventricular tachycardia (heart rate, 200 beats/min) (Fig. 1). He was treated with amiodarone. There were no signs of congestive heart failure. The chest radiograph revealed slight cardiomegaly. Two-dimensional transthoracic echocardiography revealed a 48 × 32 × 30-mm echogenic mass in the left ventricle, arising from the free anterolateral wall near the apex. There was obstruction of the left ventricular outflow tract, but no valvular incompetence; diastolic and systolic ventricular functions were good. Spiral computed tomography confirmed a heterogenous mass (Hounsfield units, –10 to 40) of the free wall of the left ventricle without local calcifications, and heterogenous tissue enhanced by contrast agent occupied 70% of the left ventricle (Fig. 2). Slight revascularization of the tumor from a diagonal branch was seen; the other coronary arteries appeared normal.
The patient was operated on via a median sternotomy with the use of standard cardiopulmonary bypass, cold cardioplegia, and moderate hypothermia. The nonencapsulated tumor was excised en bloc by partial left ventriculectomy, after we opened the anterior left ventricular free wall (Fig. 3A). The incision was closed directly, with a 5-0 Prolene running suture (Fig. 3B).
The aortic cross-clamp time was 30 minutes. The patient was stable throughout the procedure, remaining in sinus rhythm, and was safely weaned from cardiopulmonary bypass. Transesophageal echocardiography showed complete removal of the tumor and good ventricular function.
On histologic examination, a benign cardiac fibroma was diagnosed (Fig. 4).
Follow-up echocardiography at 48 months was normal, and there was no evidence of recurrence of the tumor. Twenty-four-hour Holter monitoring showed the patient to be free of arrhythmic episodes.
Cardiac fibroma is a rare benign tumor that occurs primarily in infants and children, with no numerical disparity by sex. The most common cardiac tumor in infants and children is rhabdomyoma, followed by fibroma and teratoma.3 Fibromas tend to grow rapidly.
The nevoid basal-cell carcinoma syndrome is transmitted in an autosomal fashion. Nevertheless, there was no positive family history in one third of the patients reported.4 The syndrome is present in 3% to 5% of all patients with cardiac fibroma.
The propensity of cardiac fibroma to cause arrhythmias is becoming increasingly evident.5,6 Echocardiography is the investigative method of choice, in order to determine the potential for resection.
Surgery appears to be the optimal treatment in patients with symptomatic, resectable tumors. Resection, however, can be very difficult and does not always lead to good long-term results.7 The aim of surgery is the complete removal of the tumor, whenever technically feasible. The prognosis after complete resection is excellent. Therefore, radical excision with reconstruction of the ventricle, as performed in our case, is recommended.8 However, depending on the tumor's size and location, incomplete resection or single-ventricle palliation as a bridge to heart transplantation may be necessary.9 Partial resection can result in long-term relief of symptoms. Unresectable cardiac fibromas have been successfully treated by transplantation.10 However, in patients with nevoid basal-cell carcinoma syndrome, transplantation is contraindicated.
The treatment of asymptomatic patients is less clear. However, lethal arrhythmias have been described.6
It is necessary for the pediatric practitioner to recognize the major signs and symptoms of the syndrome. If major signs or a positive family history are present, as in our patient, we recommend evaluation of the cardiac status, including repeated echocardiography. Prenatal diagnosis on the basis of echocardiographic findings has been described.9
Address for reprints: Torsten Bossert, MD, Department of Cardiac Surgery, Heart Center, University of Leipzig, Strümpellstr. 39, 04289 Leipzig, Germany