Description

A patient with Down's syndrome (Trisomy 21) is at greater risk for cardiomyopathy following chemotherapy with anthracyclines. Defects on chromosome 21 may affect activity of carbonyl reductase and superoxide dismutase which can result in enhanced toxicity of anthracycline metabolites.


 

Many patients with Down's syndrome who are treated with anthracyclines have acute myeloid leukemia (AML). Fortunately most of these patients respond well to lower doses of chemotherapy.

 

General risk factors for anthracycline cardiotoxicity:

(1) higher cumulative dose of anthracyclines (> 300 mg per square meter BSA)

(2) age < 4 years of age (which is when most cases of AML occur in Down's patients)

(3) concurrent radiotherapy

(4) female gender

 

Specific risk factors for cardiotoxicity in patients with Down's syndrome:

(1) Down's syndrome itself

(2) congenital heart disease

 

Some patients develop the cardiomyopathy early while others may develop it late.

 


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