Key result
Children with cyanotic congenital heart disease have a higher risk of developing catecholamine-secreting tumors compared with the general pediatric population due to sustained hypoxemia.
Why the study?
Catecholamine-secreting tumors are increasingly reported in children with sustained hypoxia secondary to cyanotic congenital heart disease, but diagnosis may be delayed or missed due to overlapping symptoms.
Children with cyanotic congenital heart disease are at increased risk for catecholamine-secreting tumors due to sustained hypoxia, warranting routine biochemical screening to prevent delayed diagnosis and exacerbation of heart failure.
May prompt targeted evaluation in cyanotic CHD; leaves open prospective validation before routine screening.
Catecholamine-secreting tumors are rare among the pediatric population but are increasingly being reported in children with sustained hypoxia secondary to cyanotic congenital heart disease (CCHD). With this review, we report the clinical characteristics of these tumors in children with CCHD. The articles included in the present review were identified using PubMed through February 2019. A manual search of the references retrieved from relevant articles was also performed. Pheochromocytomas and paragangliomas (PPGL) in children are commonly associated with high-risk germline or somatic mutations. There is evidently a higher risk of tumorigenesis in children with CCHD as compared with the general pediatric population, even in the absence of susceptible gene mutations. This is due to molecular mechanisms involving the aberrant activation of hypoxia-response elements, likely secondary to sustained hypoxemia, resulting in tumorigenesis. Due to overlapping symptoms with CCHD, the diagnosis of PPGL may be delayed or missed in these patients. We studied all previously reported PPGL cases in children with CCHD and reviewed phenotypic and biochemical features to assess for contributing factors in tumorigenesis. Larger studies are needed to help determine other potential predisposing factors and to establish screening guidelines in this high-risk population. A delay in diagnosis of the PPGL tumors can lead to exacerbation of cardiac failure, and therefore early diagnosis and intervention may provide better outcomes in these patients, necessitating the need for regular surveillance. We recommend routine biochemical screening in patients with sustained hypoxia secondary to CCHD.
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Agarwal et al. (2019) conducted a review in Catecholamine-secreting tumors in cyanotic congenital heart disease. Cyanotic congenital heart disease (sustained hypoxia) vs. General pediatric population was evaluated on Tumorigenesis (pheochromocytomas and paragangliomas). Children with cyanotic congenital heart disease have a higher risk of developing catecholamine-secreting tumors compared with the general pediatric population due to sustained hypoxemia.
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