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Transthyretin Amyloidosis: Update on the Clinical Spectrum, Pathogenesis, and Disease-Modifying Therapies
ATTR amyloidosis is caused by systemic deposition of transthyretin (TTR) and comprises ATTRwt (wt for wild-type) amyloidosis, ATTRv (v for variant)...
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A case of disappearing amyloid on technetium pyrophosphate scan
Technetium-99mm pyrophosphate (Tc-PYP) scintigraphy is a highly accurate non-invasive method for the diagnosis of transthyretin (ATTR) cardiac...
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Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients...
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Current Therapies and Future Horizons in Cardiac Amyloidosis Treatment
Purpose of ReviewCardiac amyloidosis (CA) is a condition characterized by misfolding and extracellular deposition of proteins, leading to organ...
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Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature
Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR v ) in the TTR gene. Alongside cardiac dysfunction, the disease typically...
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Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN)
BackgroundRecent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be...
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Neurological update: hereditary neuropathies
In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially...
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Research trends and hotspots evolution of cardiac amyloidosis: a bibliometric analysis from 2000 to 2022
In the new century, cardiac amyloidosis has received more attention from many countries and institutions, leading to innovations in the essence of...
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Advances in the Treatment of Cardiac Amyloidosis
Cardiac amyloidosis is associated with a high mortality rate, a long delay between the first signs and the diagnosis but a short interval between...
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Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis
BackgroundHereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, but life-threatening protein misfolding disorder due to TTR gene...
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Imaging-Guided Treatment for Cardiac Amyloidosis
Purpose of ReviewThis review will explore the role of cardiac imaging in guiding treatment in the two most commonly encountered subtypes of cardiac...
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Therapeutic value of tafamidis in patients with wild-type transthyretin amyloidosis (ATTRwt) with cardiomyopathy based on cardiovascular magnetic resonance (CMR) imaging
ObjectivesThe purpose of this study was to carefully analyse the therapeutic benefit of tafamidis in patients with wild-type transthyretin...
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A Review of Current and Evolving Imaging Techniques in Cardiac Amyloidosis
Purpose of reviewEstablishing an early, efficient diagnosis for cardiac amyloid (CA) is critical to avoiding adverse outcomes. We review current...
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Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis
Hereditary transthyretin (TTR) amyloidosis (ATTRv) is an autosomal dominant, systemic disease transmitted by amyloidogenic mutations in the TTR gene....
