98%
921
2 minutes
20
Amyloidosis is a protein misfolding disorder characterized by the extracellular deposition of insoluble amyloid fibrils, derived from abnormally folded proteins. These fibrils disrupt tissue structure and function, leading to organ dysfunction. The condition encompasses various subtypes, each associated with distinct precursor proteins and clinical manifestations. 99mTc-PYP scintigraphy is used widely and holds significant importance for diagnosis. 68Ga-FAPI is also a promising radiotracer for various diseases. To our knowledge, this is the first case of a patient with hereditary transthyretin amyloidosis with cardiac involvement, which FAPI PET showed diffuse increased myocardial uptake.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1097/RLU.0000000000005380 | DOI Listing |
J Neurol
September 2025
Division of Neurological Pain Research and Therapy, Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str. 3, Haus D, 24105, Kiel, Germany.
Hereditary transthyretin (ATTRv) amyloidosis is a progressive multisystem disorder, mainly characterized by cardiac dysfunction and polyneuropathy. Due to its rarity and heterogeneous presentation, diagnosis is often delayed, which has a direct impact on the initiation of treatment and, therefore, span and quality of life. To facilitate early disease recognition, we aimed to develop and validate a new screening tool for early identification of ATTRv amyloidosis with polyneuropathy (AmyloScan).
View Article and Find Full Text PDFESC Heart Fail
September 2025
French Referral Centre for Cardiac Amyloidosis, GRC Amyloid Research Institute, Amyloidosis Mondor Network, Henri-Mondor Teaching Hospital, AP-HP, Creteil, France.
Objectives: Currently, there are two prognosis staging systems validated for transthyretin amyloidosis (ATTR). We sought to develop a new staging system dedicated to hereditary transthyretin amyloidosis (ATTRv) patients on specific treatments.
Methods And Results: A total of 258 patients diagnosed with ATTRv from two cardiac amyloidosis reference centres in France and Romania were stratified into three disease stages based on NT-proBNP, estimated glomerular filtration rate (eGFR) and global longitudinal strain (GLS).
J Am Soc Echocardiogr
September 2025
Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Background And Aims: Light chain cardiac amyloidosis (AL-CA), wild-type-transthyretin cardiac amyloidosis (ATTRwt-CA) and hereditary type-transthyretin cardiac amyloidosis (ATTRv-CA) have distinct presentations, clinical courses, and prognosis. To identify differentiating echocardiographic features and their prognostic significance, we investigated a large cohort of patients with CA.
Methods: In this multi-site cohort study, CA diagnosis was verified according to guidelines.
J Peripher Nerv Syst
September 2025
Mayo Clinic Department of Neurology, Rochester, Minnesota, USA.
Aim: To report a novel case of biopsy-proven, mass spectrometry-confirmed, wild-type transthyretin amyloidosis (ATTRwt) in nerve.
Methods: The patient was identified and evaluated in the peripheral nerve clinic. Our nerve laboratory's pathology database and the literature were searched for prior evidence of pathologically confirmed cases of ATTRwt.
Orphanet J Rare Dis
September 2025
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, intractable genetic disorder caused by mutations in the transthyretin (TTR) gene. More than 150 TTR mutations have been identified, along with genotype-phenotype correlations. Early diagnosis is critical to facilitate the timely initiation of disease-modifying therapies.
View Article and Find Full Text PDF