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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/4/577 |
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| author | Yulia Lutokhina Olga Blagova Alexander Panferov Vsevolod Sedov Evgeniya Kogan Tatiana Nekrasova Alexander Nedostup Elena Zaklyazminskaya |
| author_facet | Yulia Lutokhina Olga Blagova Alexander Panferov Vsevolod Sedov Evgeniya Kogan Tatiana Nekrasova Alexander Nedostup Elena Zaklyazminskaya |
| author_sort | Yulia Lutokhina |
| collection | DOAJ |
| description | 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 (<i>DES</i>) and hemochromatosis gene (<i>HFE1</i>) 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. |
| first_indexed | 2024-03-09T13:38:54Z |
| format | Article |
| id | doaj.art-fca18ca544e04cf1a97cbd548bb489e6 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T13:38:54Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-fca18ca544e04cf1a97cbd548bb489e62023-11-30T21:09:33ZengMDPI AGGenes2073-44252022-03-0113457710.3390/genes13040577Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver LesionsYulia Lutokhina0Olga Blagova1Alexander Panferov2Vsevolod Sedov3Evgeniya Kogan4Tatiana Nekrasova5Alexander Nedostup6Elena Zaklyazminskaya7V.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, RussiaV.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, RussiaV.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, RussiaDepartment of Radiology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119146 Moscow, RussiaDepartment of Pathology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, RussiaDepartment of Pathology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, RussiaV.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, RussiaLaboratory of Medical Genetics, B.V. Petrovsky Russian Research Center of Surgery, 119991 Moscow, RussiaA 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 (<i>DES</i>) and hemochromatosis gene (<i>HFE1</i>) 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.https://www.mdpi.com/2073-4425/13/4/577restrictive cardiomyopathydesmin<i>HFE1</i> heterozygous hemochromatosisparoxetineretinol |
| spellingShingle | 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 restrictive cardiomyopathy desmin <i>HFE1</i> heterozygous hemochromatosis paroxetine retinol |
| title | Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions |
| title_full | Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions |
| title_fullStr | Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions |
| title_full_unstemmed | Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions |
| title_short | Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions |
| title_sort | mixed etiology restrictive cardiomyopathy desminopathy and hemochromatosis with complex liver lesions |
| topic | restrictive cardiomyopathy desmin <i>HFE1</i> heterozygous hemochromatosis paroxetine retinol |
| url | https://www.mdpi.com/2073-4425/13/4/577 |
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