Cardiac amyloidosis is a condition that results from the accumulation of amyloid proteins in the extracellular matrix of the myocardium. The diagnosis of this disease was challenging as it lacked distinct clinical symptoms and required a biopsy to confirm amyloid deposition. However, there is increasing evidence of non-invasive diagnostic criteria for cardiac amyloidosis, especially for the transthyretin (TTR) type. We report a case of a patient with both cardiac transthyretin amyloidosis (ATTR) and Paget's disease, and we highlight the various radiological features of these two conditions using hybrid imaging techniques. In addition, we discuss the diagnostic imaging characteristics of ATTR cardiac amyloidosis.
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http://dx.doi.org/10.7759/cureus.42621 | DOI Listing |
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 PDFCureus
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 PDFInt 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.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Washington University School of Medicine, Saint Louis, MO, USA.
Background: While several non-invasive plasma biomarkers are rapidly developing, they still have lower accuracy than the established CSF biomarkers. This study therefore comprehensively examined 6,905 plasma proteins in over 3,000 individuals to identify novel biomarkers for predicting clinical Alzheimer's disease (AD) and monitoring disease progression.
Method: To identify and validate plasma biomarkers, we performed difference abundance analysis of 6,905 plasma proteins in a total of 3,366 cases and controls from three different datasets (Knight-ADRC discovery, Knight-ADRC replication and Stanford ADRC).
Alzheimers Dement
December 2024
VA Boston Healthcare System, Jamaica Plain, MA, USA.
Background: Mixed dementia type - Alzheimer's Disease (AD), cerebral amyloid angiopathy (CAA), and vascular - is vastly recognized as a cause of dementia in older adults. Whereas CAA, primarily leptomeningeal, is a frequent complication in hereditary transthyretin cardiac amyloidosis (TTRCA), it is unusually reported in association with wild-type TTR, with or without polyneuropathy. The knowledge of mixed dementia and wild-type TTR association is even scarcer.
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