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Cardiac amyloidosis: when to suspect and how to confirm.
J Cardiovasc Med (Hagerstown)
February 2025
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste.
Diagnosing cardiac amyloidosis (CA) is challenging because of its phenotypic heterogeneity, multiorgan involvement requiring interaction among experts in different specialties and subspecialties, lack of a single noninvasive diagnostic tool, and still limited awareness in the medical community. Missing or delaying the diagnosis of CA may profoundly impact on patients' outcomes, as potentially life-saving treatments may be omitted or delayed. The suspicion of CA should arise when "red flags" for this condition are present, together with increased left ventricular wall thickness.
View Article and Find Full Text PDFEchocardiographic index of left ventricular performance for prognostication in transthyretin cardiac amyloidosis: the central role of stroke volume index.
J Cardiovasc Med (Hagerstown)
February 2025
Cardiology Unit, Azienda Ospedaliera Universitaria di Ferrara, Cona, Ferrara, Italy.
Introduction: Cardiac amyloidosis typically causes restrictive cardiomyopathy, in which the impairment of diastolic function is dominant. Echocardiography provides prognostic information through some important parameters: left ventricular ejection fraction (LVEF) and global longitudinal strain (GLS). However, LVEF often remains preserved despite disease progression, and GLS is not routinely performed as it is limited by suboptimal image quality.
View Article and Find Full Text PDFClinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration.
JAMA Cardiol
January 2025
National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Hospital, London, United Kingdom.
Importance: Patients with transthyretin (ATTR) cardiac amyloid infiltration are increasingly diagnosed at earlier disease stages with no heart failure (HF) symptoms and a wide range of cardiac amyloid infiltration.
Objective: To characterize the clinical phenotype and natural history of asymptomatic patients with ATTR cardiac amyloid infiltration.
Design, Setting, And Participants: This cohort study analyzed data of all patients at 12 international centers for amyloidosis from January 1, 2008, through December 31, 2023.
Transthyretin Cardiac Amyloidosis: Current and Emerging Therapies.
Curr Cardiol Rep
January 2025
The Pauley Heart Center, Virginia Commonwealth University, 1200 East Broad Street West Hospital, 8th Floor, West Wing, Richmond, VA, 23231, USA.
Purpose Of Review: In this article, we describe current and newer TTR stabilizers, TTR silencers which include small interfering RNA agents (siRNA), antisense oligonucleotides (ASO) and CRISPR-Cas9 gene editing, and TTR depleters, which investigates the use of monoclonal antibodies to remove amyloid fibril deposits for patients with advanced disease.
Recent Findings: Once thought to be a rare and fatal condition, increased recognition, improved non-invasive diagnostic tools, and the explosive development of novel therapies, has transformed the landscape of transthyretin amyloid cardiomyopathy (ATTR-CM). Advances in cardiac imaging with respect to echocardiography, cardiac magnetic resonance imaging (CMR), and radionuclide bone scintigraphy has increased the diagnosis of ATTR-CM over the last twenty years.
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness.
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