Results 61 to 70 of about 7,937 (220)

Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy

Frontiers in Cardiovascular Medicine
Hereditary transthyretin amyloid (ATTRv) cardiomyopathy (CM) is caused by mutations in the TTR gene. TTR mutations contribute to TTR tetramer destabilization and dissociation, leading to excessive deposition of insoluble amyloid fibrils in the myocardium
Jibin Lin, Jibin Lin, Jibin Lin, Jiangtong Peng, Jiangtong Peng, Jiangtong Peng, Bingjie Lv, Bingjie Lv, Bingjie Lv, Zheng Cao, Zhijian Chen, Zhijian Chen, Zhijian Chen   +12 more
doaj   +1 more source

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes.
Rosmini, Stefania <1981>
core   +1 more source

Exercise limitations in amyloid cardiomyopathy assessed by cardiopulmonary exercise testing—A multicentre study

ESC Heart Failure, Volume 12, Issue 2, Page 1326-1335, April 2025.
Abstract Aims Amyloid cardiomyopathy is caused by the deposition of light chain (AL) or transthyretin amyloid (ATTR) fibrils, that leads to a restrictive cardiomyopathy, often resulting in heart failure (HF) with preserved or reduced ejection fraction.
Robin Willixhofer, Mauro Contini, Michele Emdin, Damiano Magrì, Alice Bonomi, Elisabetta Salvioni, Fabrizio Celeste, Alberico Del Torto, Claudio Passino, Christophe D.J. Capelle, Chiara Arzilli, Emiliano Fiori, Nicolò Capra, Christina Kronberger, Nikita Ermolaev, Andreas Kammerlander, Beatrice Musumeci, Giuseppe Vergaro, Vincenzo Castiglione, René Rettl, Giacomo Tini, Andrea Baggiano, Iacopo Fabiani, Susanna Sciomer, Roza Badr Eslam, Piergiuseppe Agostoni   +25 more
wiley   +1 more source

In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis. [PDF]

, 2014
Introduction: Transthyretin (TTR)-related amyloidosis is a life-threatening disease. Currently, several questions about the pathogenic mechanisms of TTR-related amyloidosis remain unanswered.
Di Girolamo, M, Fuciarelli, M, Manfellotto, D, Polimanti, R   +3 more
core   +1 more source

Ultra High‐Resolution Ultrasound Features of Carpal Tunnel Syndrome in Transthyretin Amyloidosis: A Cross‐Sectional Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Transthyretin amyloidosis (ATTR), including hereditary (hATTR) and wild‐type (wtATTR), often presents initially as carpal tunnel syndrome (CTS), often preceding systemic symptoms by several years. Ultra high‐resolution ultrasound (UHRUS) offers detailed visualization of peripheral nerve morphology, but its application in ATTR‐
Rachana K. Gandhi Mehta, Nicholas Miller, Michael S. Cartwright, Rebecca Traub, Joni Evans   +4 more
wiley   +1 more source

Amyloid Cardiomyopathy: Review of A Fatal Case Report

Архивъ внутренней медицины
Close attention to the problem of amyloid cardiomyopathy in recent years has been caused by a significant increase in the disease detection simultaneously with increased sensitivity and specificity of imaging methods used in cardiological practice, along
O. V. Soldatova, I. Ya. Goryanskaya
doaj   +1 more source

Kidney Outcomes in Transthyretin Amyloid Cardiomyopathy.

JAMA Cardiol
ImportanceTransthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive cardiomyopathy that commonly presents with concomitant chronic kidney disease. Chronic kidney dysfunction is associated with worse outcomes, but the prognostic value of changes in kidney function over time has yet to be defined.ObjectiveTo assess the prognostic importance of a ...
Ioannou A, Razvi Y, Porcari A, Rauf MU, Martinez-Naharro A, Venneri L, Kazi S, Pasyar A, Luxhøj CM, Petrie A, Moody W, Steeds RP, Sperry BW, Witteles RM, Whelan C, Wechalekar A, Lachmann H, Hawkins PN, Solomon SD, Gillmore JD, Fontana M.   +20 more
europepmc   +3 more sources

Acoramidis in Transthyretin Amyloid Cardiomyopathy

New England Journal of Medicine
To the Editor: In a phase 3 trial of acoramidis for transthyretin amyloid cardiomyopathy, Gillmore et al. (Jan. 11 issue)(1) used the Finkelstein-Schoenfeld test to assess the hierarchical composite primary outcome. They expressed the treatment effect as a win ratio, thereby following the initial presentation of the analysis of a prioritized outcome.(2)
VERBEECK, Johan, De Backer, Mickael, BUYSE, Marc   +2 more
openaire   +5 more sources

The Underscreening of Cardiac Amyloidosis in Patients With Pacemakers—A Single Centre Retrospective Audit

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Background Cardiac amyloidosis is commonly associated with cardiac conduction disease. We sought to determine the prevalence of advanced conduction disease requiring a pacemaker in patients with known cardiac amyloidosis to evaluate current screening practices among patients receiving pacemakers.
Peishan Cai, Timothy Scully, Jason Nogic, Kah Peck, Jithin Sajeev   +4 more
wiley   +1 more source

Multi-modality imaging in transthyretin amyloid cardiomyopathy

World Journal of Cardiology, 2019
Transthyretin amyloid (TTR) cardiomyopathy is a disease of insidious onset, which is often accompanied by debilitating neurological and/or cardiac complications. The true prevalence is not fully known due to its elusive presentation, being often under-recognized and usually diagnosed only late in its natural history and in older patients.
Traynor, Bryan Paul, Shamsi, Aamir, Voon, Victor   +2 more
openaire   +2 more sources