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Genes (Basel) ; 13(4)2022 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-35456383

RESUMO

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.


Assuntos
Cardiomiopatia Restritiva , Insuficiência Cardíaca , Hemocromatose , Neoplasias Hepáticas , Adulto , Cardiomiopatia Restritiva/etiologia , Cardiomiopatia Restritiva/genética , Desmina/genética , Insuficiência Cardíaca/genética , Hemocromatose/complicações , Hemocromatose/genética , Humanos , Masculino
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