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Congenital Neuroblastoma and Congenital Heart Disease

Therese mary William Ibrahim, Gusztav Belteki, Martin Richardson, Wilf Kelsall


Introduction: The association of neuroblastoma and congenital heart disease might have clinical consequences and cardiac screening might be required for all patients diagnosed with neuroblastoma for further management.

Presentation of case: We report a case of a neonate, who presented to the paediatrics assessment unit with severe abdominal distension, on examination massive hepatomegaly and spleenomegaly were noted and a heart murmur was detected. He was admitted to the paediatric department and the laboratory results showed high levels of urinary catecholamines and their metabolites including homovanillic acid (HVA) and vanillylmandelic acid (VMA). The radiology services were involved and he diagnosed with metastatic adrenal neuroblastoma stage 4S. An echocardiography (ECHO) was performed and showed valvular pulmonary stenosis. He was referred to the oncology department, and made a good recovery following an intensive course of chemotherapy.

Conclusion: This case is of particular interest because of the co-existence of congenital neuroblasoma and congenital heart disease is rare, our case provides further evidence for this association and to review the literature concerning this unusual but clinically significant relationship which might require further investigations and echocardiography might be required for all patients with congenital neuroblastoma.


Congenital neuroblastoma; Cathecholamines; congenital heart disease; echocardiography; valvular pulmonary stenosis

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