A rare case of cardiac fibroma diagnosis in Gorlin–Goltz syndrome with information on management
Abstract
Gorlin–Goltz syndrome is a rare autosomal dominant disease characterized by odontogenic keratocysts and basal cell carcinoma as well as ophthalmic and neurological implications. The following article presents the case of a 20-year-old female with Gorlin–Goltz syndrome incidentally found to have a cardiac mass. An ECG showed diffuse T-wave inversions in the lateral leads despite a lack of any acute coronary symptoms in the patient. Echocardiogram, cardiac MRI and CT scan confirmed a nonvascularized, smoothly marginated mass arising from the left ventricular apex without any hemodynamic compromise. A whole-body PET scan further demonstrated localized hyperactivity associated with a cardiac fibroma without any evidence of metastasis. The cardiac fibroma was surgically excised for definitive management to prevent the possibility of sudden cardiac death and congestive heart failure.
Plain language summary
Cardiac fibroma presents as a benign tumor of the heart. Although tumors of the heart are uncommon, patients who have Gorlin–Goltz syndrome are at a higher risk of developing these fibromas. In the following article, the authors discuss the presence of this rare cardiac fibroma in a 20-year-old female patient with Gorlin–Goltz syndrome. The patient's tumor was found incidentally during a CT scan after she presented with symptoms of flank pain. A follow-up was later conducted with cardiology and cardiac surgery. Several tests were performed to scan the exact tumor location in the heart. Finally, the tumor was removed, and the patient recovered after surgery. Later, the patient was diagnosed with depression and needed medicine to cope with emotional trauma from multiple surgeries.
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References
- 1. The Gorlin syndrome: a genetically determined disorder associated with cardiac tumor. Am. Heart J. 111(5), 1013–1015 (1986).
- 2. . Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 66(2), 98–113 (1987).
- 3. Gorlin–Goltz syndrome. A case report. J. Oral Maxillofac. Pathol. 13(2), 89–92 (2009).
- 4. Gorlin–Goltz syndrome. Acta Dermatovenerol. Alp. Panonica Adriat. 16(4), 166–169 (2007).
- 5. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J. Med. Genet. 30(6), 460–464 (1993). •• Provides the criteria for diagnosis of Gorlin–Goltz syndrome.
- 6. Cardiac fibroma as an inherited manifestation in nevoid basal cell carcinoma. Texas Heart Inst. 33(1), 88–90 (2006).
- 7. Pediatric primary benign cardiac tumors: a 15-year review. Am. Heart J. 134(6), 1107–1114 (1997).
- 8. Surgical resection of ventricular cardiac fibroma; early and late results. Ann. Thorac. Surg. 76(6), 1929–1934 (2003). •• Describes symptoms of ventricular fibroma and prolonged follow-up after surgical resection.
- 9. . Cardiac fibroma with ventricular arrhythmia. Mol. Syndromol. 9(4), 219–223 (2018).
- 10. Cardiac fibroma: a clinicopathologic study of a series of 12 cases. Cardiovasc. Pathol. 56, 107381 (2022). • Discusses histological findings in cardiac fibroma compared with other collagenous diseases.