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Volume 13
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10.3390/genes13040577
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Case Report

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

by
Yulia Lutokhina
1,*,
Olga Blagova
1,
Alexander Panferov
1,
Vsevolod Sedov
2,
Evgeniya Kogan
3,
Tatiana Nekrasova
3,
Alexander Nedostup
1 and
Elena Zaklyazminskaya
4
1
V.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia
2
Department of Radiology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119146 Moscow, Russia
3
Department of Pathology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia
4
Laboratory of Medical Genetics, B.V. Petrovsky Russian Research Center of Surgery, 119991 Moscow, Russia
*
Author to whom correspondence should be addressed.
Genes 2022, 13(4), 577; https://doi.org/10.3390/genes13040577
Submission received: 11 February 2022 / Revised: 18 March 2022 / Accepted: 23 March 2022 / Published: 24 March 2022
(This article belongs to the Section Genetic Diagnosis)
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Abstract

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.
Keywords: restrictive cardiomyopathy; desmin; HFE1 heterozygous hemochromatosis; paroxetine; retinol restrictive cardiomyopathy; desmin; HFE1 heterozygous hemochromatosis; paroxetine; retinol

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MDPI and ACS Style

Lutokhina, Y.; Blagova, O.; Panferov, A.; Sedov, V.; Kogan, E.; Nekrasova, T.; Nedostup, A.; Zaklyazminskaya, E. Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions. Genes 2022, 13, 577. https://doi.org/10.3390/genes13040577

AMA Style

Lutokhina Y, Blagova O, Panferov A, Sedov V, Kogan E, Nekrasova T, Nedostup A, Zaklyazminskaya E. Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions. Genes. 2022; 13(4):577. https://doi.org/10.3390/genes13040577

Chicago/Turabian Style

Lutokhina, Yulia, Olga Blagova, Alexander Panferov, Vsevolod Sedov, Evgeniya Kogan, Tatiana Nekrasova, Alexander Nedostup, and Elena Zaklyazminskaya. 2022. "Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions" Genes 13, no. 4: 577. https://doi.org/10.3390/genes13040577

APA Style

Lutokhina, Y., Blagova, O., Panferov, A., Sedov, V., Kogan, E., Nekrasova, T., Nedostup, A., & Zaklyazminskaya, E. (2022). Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions. Genes, 13(4), 577. https://doi.org/10.3390/genes13040577

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