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From Molecular to Radionuclide and Pharmacological Aspects in Transthyretin Cardiac Amyloidosis.
Int J Mol Sci
December 2024
Clinic of Nuclear Medicine Central University Emergency Military Hospital "Dr Carol Davila", 10825 Bucharest, Romania.
Amyloidosis is a rare pathology characterized by protein deposits in various organs and tissues. Cardiac amyloidosis (CA) can be caused by various protein deposits, but transthyretin amyloidosis (ATTR) and immunoglobulin light chain (AL) are the most frequent pathologies. Protein misfolding can be induced by several factors such as oxidative stress, genetic mutations, aging, chronic inflammation, and neoplastic disorders.
View Article and Find Full Text PDFTransthyretin amyloid cardiomyopathy: a paradigm for advancing precision medicine.
Eur Heart J
January 2025
Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, Manuel de Falla, 1, 28222 Majadahonda, Madrid, Spain.
Development of specific therapies addressing the underlying diseases' mechanisms constitutes the basis of precision medicine. Transthyretin cardiac amyloidosis (ATTR-CM) is an exemplar of precise therapeutic approach in the field of heart failure and cardiomyopathies. A better understanding of the underlying pathophysiology, more precise data of its epidemiology, and advances in imaging techniques that allow non-invasive diagnosis have fostered the development of new and very effective specific therapies for ATTR-CM.
View Article and Find Full Text PDFA Case of Transthyretin Cardiac Amyloidosis Coexisting With Rheumatoid Arthritis.
Cureus
December 2024
Graduate Medical Education (GME) Internal Medicine, Mary Washington Healthcare, Fredericksburg, USA.
Cardiac amyloidosis is a rare but increasingly recognized cause of heart failure, often underdiagnosed until later stages of the disease. This report describes a case of transthyretin amyloidosis (ATTR) in a 68-year-old male patient with a significant medical history of rheumatoid arthritis (RA), a combination seldom documented in the literature. The patient presented with progressive symptoms of heart failure, and diagnostic testing confirmed ATTR cardiac amyloidosis through pyrophosphate (PYP) scanning.
View Article and Find Full Text PDFHis108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.
J Clin Med
December 2024
Department of Internal Medicine, Division of Cardiology, Medical University of Vienna, 1090 Wien, Austria.
Variant transthyretin amyloidosis cardiomyopathy (ATTRv-CM) is a rare form of cardiac amyloidosis associated with many possible mutations in the transthyretin gene, presenting as various distinct clinical phenotypes. Among these, the His108Arg mutation is the most prevalent TTR variant in Austria. However, data describing its clinical phenotype are lacking.
View Article and Find Full Text PDFChylothorax as an unusual manifestation of transthyretin cardiac amyloidosis: a case report.
Eur Heart J Case Rep
January 2025
Internal Department II of Cardiology, Angiology and Internal Intensive Medicine, Ordensklinikum Elisabethinen Linz, Fadingerstraße 1, 4020 Linz, Austria.
Article Synopsis
- Amyloidosis is a serious multi-organ disease increasingly relevant in cardiology, and chylothorax—an unusual fluid accumulation in the pleural cavity—has been reported in only a few cases linked to cardiac amyloidosis, all in AL type, with none in ATTR type.
- The case under discussion involves an 85-year-old man diagnosed with ATTR cardiac amyloidosis who developed chylothorax, indicated by elevated serum CA 125 levels, and unfortunately passed away shortly after due to an embolic stroke.
- More research is needed to understand how chylothorax develops in amyloidosis cases and to explore CA 125's potential role as a prognostic marker in ATTR amyloidosis.
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