(P 382) PARAGANGLIOMA AND CONGENITAL HEART DISEASE - A RARE CASE REPORT

Objective: Paragangliomas (PGL) are rare tumors derived from extra-adrenal chromaffin tissue originating from the same Schwann cell precursors as the adrenal medulla. Up to 40% harbor germline mutations and a large proportion of these genetic variants lead to pseudohypoxic signaling within the cells, resulting in stabilization of hypoxia inducible factors and tumor development. Chronic hypoxia either due to environmental factors or cyanotic heart disease may trigger the same pathways and increase the risk of PGL development.

Methods: We present here a rare case of early onset PGL in a 39-year-old woman with situs inversus and Fallot’s heart anomaly. She presented with typical symptoms of heart palpitations and severe hypertension and diagnostic evaluation revealed elevated normetanephrine levels and a large paracaval PGL in the liver hilus (pic 1-2).

Results: After pre-treatment with alpha-adrenoceptor blockers she underwent open resection of the tumor with no peri- or post-operative complications (pic 3-4). The genetic testing has not yet been finalized but there is no family history of PGL, and we hypothesize that her early presentation is instead related to the chronic hypoxia due to her functional single ventricle heart and previous cases of PGL in young adults or even adolescents with cyanotic heart disease have been described.

Conclusion: Catecholamine surveillance from a young age as well as life-long follow up may be considered for all patients with chronic hypoxic disorders, regardless of mutational status.