Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions

A 28 year-old male with restrictive cardiomyopathy (RCM) and endocardium thickening, conduction disorders, heart failure, and depressive disorder treated with paroxetine was admitted to the clinic. Blood tests revealed an increase in serum iron level, transferrin saturation percentage, and slightly elevated liver function tests. Sarcoidosis, storage diseases and Loeffler endocarditis were ruled out. Mutations in desmin (DES) and hemochromatosis gene (HFE1) were identified. Liver biopsy was obtained to verify the hemochromatosis, assess its possible contribution to the RCM progression and determine indications for treatment. Biopsy revealed signs of drug-induced injury, subcompensated heart failure, and hemosiderin accumulation. Thus, even if one obvious cause (desmin mutation) of RCM has been identified, other less likely causes should be taken into consideration.

Automated summary

Translation: A case study of a male patient with restrictive cardiomyopathy (RCM) and elevated serum iron levels and transferrin saturation percentage is reported. Mutations in desmin (DES) and hemochromatosis gene (HFE1) were identified. Liver biopsy confirmed drug-induced injury, subcompensated heart failure, and hemosiderin accumulation. Therefore, other less likely causes should be taken into consideration even if one obvious cause has been identified.