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 () and hemochromatosis gene () 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.
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http://dx.doi.org/10.3390/genes13040577 | DOI Listing |
Clin Nucl Med
November 2024
Cardiology Department, CHU Orleans, Orleans, France.
Late-stage eosinophilic myocarditis (or Löffler endocarditis) is known to occur in patients with hypereosinophilic syndrome and can cause restrictive cardiomyopathy. Eosinophilic myocarditis is an acute life-threatening inflammatory disease of the heart that can be associated with cancer. We report a case of a 70-year-old White woman, previously treated for diffuse large B-cell lymphoma in remission, admitted for acute dyspnea with a 1-year history of hypereosinophilia.
View Article and Find Full Text PDFClin Nucl Med
February 2025
Cardiology Department, CHU Orleans, Orleans, France.
Late-stage eosinophilic myocarditis (or Löffler endocarditis) is known to occur in patients with hypereosinophilic syndrome and can cause restrictive cardiomyopathy. Eosinophilic myocarditis is an acute life-threatening inflammatory disease of the heart that can be associated with cancer. We report a case of a 70-year-old White woman, previously treated for diffuse large B-cell lymphoma in remission, admitted for acute dyspnea with a 1-year history of hypereosinophilia.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Department of Invasive Cardiology, Medical University of Białystok, 15-089 Białystok, Poland.
Cardiac transthyretin amyloidosis is an underdiagnosed disorder with significant diagnostic difficulties due to its non-specific clinical manifestations. It is caused by the deposition of protein aggregates with an abnormal tertiary structure in the extracellular matrix. Their accumulation leads to the development of hypertrophic and restrictive cardiomyopathy and, at a later stage, heart failure with preserved ejection fraction syndrome.
View Article and Find Full Text PDFFront Transplant
December 2024
Pediatric Cardiology and Adult with Congenital Heart Disease Unit, Instituto do Coração (InCor) do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Background: Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle.
View Article and Find Full Text PDFNat Commun
January 2025
Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Trivandrum, India.
Survival outcomes of patients with heart failure (HF) based on their disease etiology are not well described. Here, we provide one-year mortality outcomes of 10850 patients with HF (mean age = 59.9 years, 31% women) in India.
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