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Transthyretin 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.
View Article and Find Full Text PDFMolecular and Functional Significance of Growth Differentiation Factor-15: A Review on Cardiovascular-Kidney-Metabolic Biomarker.
Curr Cardiol Rev
January 2025
Department of Pharmacology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India.
Cardiovascular-kidney-metabolic (CKM) syndrome is the association between obesity, diabetes, CKD (chronic kidney disease), and cardiovascular disease. GDF-15 mainly acts through the GFRAL (Glial cell line-derived neurotrophic factor Family Receptor Alpha-Like) receptor. GDF-15 and GDFRAL complex act mainly through RET co-receptors, further activating Ras and phosphatidylinositol-3-kinase (PI3K)/Akt pathways through downstream signaling.
View Article and Find Full Text PDFA propensity-matched analysis of cardiac operation in patients with and without cardiac amyloidosis.
JTCVS Open
December 2024
Department of Cardiovascular Surgery, Mayo Clinic, Rochester, Minn.
Objective: There are limited data on the outcome of routine cardiac operations in patients with cardiac amyloidosis. This study studied the impact of amyloidosis on early and late results of cardiac operations.
Methods: This was a retrospective, propensity-matched, case-control study of patients with cardiac amyloidosis undergoing cardiac surgery.
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