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

Yulia Lutokhina, Olga Blagova, Alexander Panferov, Vsevolod Sedov, Evgeniya Kogan, Tatiana Nekrasova, Alexander Nedostup, Elena Zaklyazminskaya

Genes 2022 Mar 24

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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.

Citation

Yulia Lutokhina, Olga Blagova, Alexander Panferov, Vsevolod Sedov, Evgeniya Kogan, Tatiana Nekrasova, Alexander Nedostup, Elena Zaklyazminskaya. Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions. Genes. 2022 Mar 24;13(4)