We reported a case of pheochromocytoma with initial presentation of cardiac arrest. The patient underwent implantable cardioverter defibrillator for primary prevention but subsequently experienced repeated implantable cardioverter defibrillator shocks and syncopal episodes. A mass was found in the adrenal gland by CT, which was confirmed by anatomopathological analysis of the surgical specimen.

Pheochromocytoma (PCC) is a rare, mostly benign tumour of the adrenal medulla. Hereditary PCC accounts for ~35% of cases and has been associated with germline mutations in several cancer susceptibility genes (e.g., KIF1B, SDHB, VHL, SDHD, RET). We performed whole-exome sequencing in a family with four PCC-affected patients in two consecutive generations and identified a potential novel candidate pathogenic variant in the REXO2 gene that affects splicing (c.531-1G>T (NM 015523.3)), which co-segregated with the phenotype in the family. REXO2 encodes for RNA exonuclease 2 protein and localizes to 11q23, a chromosomal region displaying allelic imbalance in PCC. REXO2 protein has been associated with DNA repair, replication and recombination processes and thus its inactivation may contribute to tumorigenesis. While the study suggests that this novel REXO2 gene variant underlies PCC in this family, additional functional studies are required in order to establish the putative role of the REXO2 gene in PCC predisposition.

Torsades de Pointes is an extremely rare arrhythmia in children associated to LQT syndrome. Pheochromocytomas are also extremely rare tumours in the paediatric age. We present a case of a young patient with an acquired long QT syndrome complicating with Torsades de Pointes as first clinical manifestation of a pheochromocytoma.

Previous studies have demonstrated the individual association of subpulmonary tissue tags, dissection of the pulmonary trunk and primitive neuroectodermal tumors with congenital heart disease. We are reporting a case of double inlet left ventricle with all these associations as it is exceptionally rare for all features to be manifest in one individual.