Cardiac amyloidosis (CA) is an infiltrative disease that results from the deposition of amyloid fibrils in the myocardium, resulting in restrictive cardiomyopathy. The amyloid fibrils are predominantly derived from two parent proteins, immunoglobulin light chain (AL) and transthyretin (ATTR), and ATTR is further classified into hereditary (ATTRv) and wild-type (ATTRwt) based on the presence or absence, respectively, of a mutation in the transthyretin gene. Once thought to be a rare entity, CA is increasingly recognized as a significant cause of heart failure due to improved clinical awareness and better diagnostic imaging. Advances in multimodality imaging, including echocardiography, cardiac magnetic resonance imaging, and CA radionuclide imaging, have markedly enhanced the non-invasive detection of this condition. While ATTR can often be diagnosed with CA radionuclide imaging in conjunction with the absence of paraproteinemia, the diagnosis of AL typically requires histological confirmation. This review, with the help of a case presentation, highlights the critical role of noninvasive imaging modalities in early detection and quantification of disease burden, which are crucial for timely treatment and improvement in patient outcomes.
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Circ J
January 2025
Department of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine.
Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an under-recognized cause of heart failure (HF) in older adults. Delayed ATTR-CM diagnosis may result in more advanced symptoms. This study describes the journey of Japanese patients with ATTR-CM.
View Article and Find Full Text PDFEur J Nucl Med Mol Imaging
January 2025
Department of Biomedical Imaging and Image-guided Therapy, Division of Nuclear Medicine, Medical University of Vienna, Spitalgasse 23, Vienna, 1090, Austria.
Purpose: Advancements of deep learning in medical imaging are often constrained by the limited availability of large, annotated datasets, resulting in underperforming models when deployed under real-world conditions. This study investigated a generative artificial intelligence (AI) approach to create synthetic medical images taking the example of bone scintigraphy scans, to increase the data diversity of small-scale datasets for more effective model training and improved generalization.
Methods: We trained a generative model on Tc-bone scintigraphy scans from 9,170 patients in one center to generate high-quality and fully anonymized annotated scans of patients representing two distinct disease patterns: abnormal uptake indicative of (i) bone metastases and (ii) cardiac uptake indicative of cardiac amyloidosis.
R I Med J (2013)
February 2025
Department of Medicine, Division of Cardiology, Alpert Medical School of Brown University, Providence RI.
Cardiac amyloidosis (CA) is an infiltrative disease that results from the deposition of amyloid fibrils in the myocardium, resulting in restrictive cardiomyopathy. The amyloid fibrils are predominantly derived from two parent proteins, immunoglobulin light chain (AL) and transthyretin (ATTR), and ATTR is further classified into hereditary (ATTRv) and wild-type (ATTRwt) based on the presence or absence, respectively, of a mutation in the transthyretin gene. Once thought to be a rare entity, CA is increasingly recognized as a significant cause of heart failure due to improved clinical awareness and better diagnostic imaging.
View Article and Find Full Text PDFFuture Cardiol
January 2025
BridgeBio Pharma, Inc., San Francisco, CA, USA.
Introduction: The 6-minute walk test (6MWT) is used to assess submaximal exercise capacity in clinical trials. Conducting the 6MWT can be challenging when patients cannot visit the clinic due to physical/travel limitations. This pilot study assessed the feasibility of conducting the 6MWT using wearable sensors for patients with transthyretin amyloid cardiomyopathy.
View Article and Find Full Text PDFEur J Neurol
February 2025
Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
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