Session: SUN 130-162-Neuroendocrinology
Poster Board SUN-136
Methods: A multi-institutional study enrolled twelve patients with cardiac paragangliomas. Genetic testing for SDHx was performed by multiplex PCR. All patients underwent functional imaging studies, transthoracic echocardiography, followed by cardiac CT or cardiac MRI to determine the exact site of involvement and vascularity of the tumor. All cases but one underwent surgical resection of the cardiac tumor and were followed for up to 34 years.
Results: 5/12 patients were males (41%) and average age was 41 years. Typical symptoms of paraganglioma (paroxysmal hypertension, palpitation, headache) were the initial presentation in 83% of cases (10 patients), while cardiac-specific symptoms (chest pain) were noticed in only 2 patients (17%). Genetic testing was done in 10 cases (83%), out of which 70% were positive for SDHB, C, or D mutations. Eleven cases (91%) required cardiac surgery to remove the paraganglioma tumor with no intraoperative morbidity and mortality after receiving adequate preoperative management with adrenergic blockade to prevent catecholamine crisis.
Discussion: SDHx mutation is known to be associated with mediastinal location and malignant behavior of paragangliomas. These tumors are rare and may present with symptoms related to catecholamine excess. Furthermore, surgery remains the mainstay of therapy in these patients. This is the first report that identifies the role of SDH B, D, and C mutations in the location of such tumors in the heart. Genetic testing of all patients with cardiac tumors helps physicians make earlier diagnoses and guides proper surgical management.
Nothing to Disclose: JD, AE, ADMG, SL, RL, CJ, BLS, JLA, KTA, DR, AF, AV, EGL, RGD, KH, KP
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