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The Last Decade in Cardiac Amyloidosis: Advances in Understanding Pathophysiology, Diagnosis and Quantification, Prognosis, Treatment Strategies, and Monitoring Response.
JACC Cardiovasc Imaging
January 2025
National Amyloidosis Centre, University College London, Royal Free Campus, Rowland Hill Street, London, United Kingdom.
Cardiac amyloidosis represents a unique disease process characterized by amyloid fibril deposition within the myocardial extracellular space. Advances in multimodality cardiac imaging enable accurate diagnosis and facilitate prompt initiation of disease-modifying therapies. Furthermore, rapid advances in multimodality imaging have enriched understanding of the underlying pathogenesis, enhanced prognostication, and resulted in the development of imaging-based markers that reflect the amyloid burden, which is of increasing importance when assessing the response to treatment.
View Article and Find Full Text PDFFrom 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 PDFTransthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report.
Int Med Case Rep J
January 2025
Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang Cerebrovascular Disease (Stroke) Clinical Medical Research Center, Regional Medical Center for Neurological Diseases of Henan Province, Luoyang, People's Republic of China.
Introduction: Transthyretin protein-related familial amyloidosis polyneuropathy (TTR-FAP) is an autosomal dominant genetic disease caused by mutations in the TTR gene. The disease is characterized primarily by peripheral and autonomic nerve damage. Disease progression is associated with frequent involvement of the heart, lungs, kidneys, eyes, and other organs.
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