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Rare and hereditary disorders
Hereditary ATTR amyloidosis
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Publications and studies (1285)
- Correlation between neuropathy severity and neurofilament light chain levels in Brazilian patients with hereditary transthyretin amyloidosis. (2026/04/14) ♡
- Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact. (2026/04/07) ♡
- Outcomes and predictors of atrial fibrillation in cardiac amyloidosis. (2026/04/03) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Cardiac Perspective on Amyloidosis: Appropriate Cardiac Diagnostic Approaches Following Histological Amyloid Detection in Tendinopathies. (2026/04/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Diagnosis of Amyloidosis in Hand and Plastic Surgery Patients: Optimal Tissue Selection and Examination Methods for Early Detection. (2026/04/01) ♡
- Impact of disease-modifying therapy on [(99m)Tc]Tc-DPD SPECT/CT markers in transthyretin cardiac amyloidosis enabled by artificial intelligence. (2026/04/01) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Role of SGLT2 inhibitor therapy in patients with transthyretin cardiac amyloidosis: a GRADE assessed systematic review and meta-analysis. (2026/04/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. [ATTR Amyloidosis for Hand Surgeons: A Hidden, Treatable Systemic Disease]. (2026/04/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Effect of Eplontersen in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy Across Genetic Variants: An Exploratory Analysis From the NEURO-TTRansform Trial. (2026/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Retransplantation After Acquired Transthyretin Amyloidosis Following Domino Liver Transplantation: Outcomes and Challenges. (2026/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Amyloid fibril polymorphism in the heart and liver of a patient with polyneuropathic ATTRv-V122Δ amyloidosis. (2026/04/01) ♡
- Redefining therapeutics in vATTR: Evaluation of response predictors to tafamidis and patisiran treatment in a non-endemic area. A proposal for a novel individualised therapeutic approach. (2026/04/01) ♡
- Development and validation of the modified-comprehensive Kumamoto Score: a multi-organ assessment tool for hereditary transthyretin amyloidosis. (2026/03/31) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hereditary transthyretin amyloidosis mimicking ALS: First genetically proven case report from Saudi Arabia. (2026/03/06) ♡
- Additive diagnostic value of thoracic SPECT/CT imaging in perugini grade 1 patients who underwent bone scintigraphy. (2026/03/01) ♡
- Specificities of amyloid cardiomyopathy caused by transthyretin V30 mutation. (2026/03/01) ♡
- The impact of large v-waves of pulmonary artery wedge pressure in patients with wild-type transthyretin amyloid cardiomyopathy. (2026/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Value of single-photon emission computed tomography for diagnosing transthyretin amyloid cardiomyopathy: Correlation with endomyocardial biopsy. (2026/03/01) ♡
- Diagnostic discordance between planar and single photon emission computed tomography cardiac scintigraphy for transthyretin cardiac amyloidosis. (2026/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Selective Cardiac Tc-99m DPD Retention With Markedly Reduced Extracardiac Uptake in Hereditary Transthyretin Amyloidosis. (2026/03/01) ♡
- Attenuated peripheral vascular responsiveness contributes to baroreflex dysfunction in patients with wild-type transthyretin amyloidosis. (2026/03/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Effect of Acoramidis on Recurrent and Cumulative Cardiovascular Outcomes in ATTR-CM: Exploratory Analysis From ATTRibute-CM. (2026/02/10) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Transthyretin Cardiac Amyloidosis Evaluation and Management: 2025 ACC Concise Clinical Guidance. (2026/02/10) ♡
- Timing of Mortality Benefit in Outcomes Trials in Transthyretin Amyloidosis. (2026/02/10) ♡
- Myocardial Amyloid Burden in Transthyretin Amyloidosis. (2026/02/10) ♡
- Delayed Diagnosis of Transthyretin Amyloid Cardiomyopathy in the Veterans Health Administration. (2026/02/10) ♡
- Rationale and design of the imaging for detection rate of cardiac transthyretin amyloidosis study (the IMPACT study). (2026/02/01) ♡
- Artificial intelligence-driven longitudinal quantification of technetium pyrophosphate uptake in cardiac amyloidosis: Correlation with multimodality imaging and outcomes. (2026/02/01) ♡
- Comparative performance of (99m)Tc-pyrophosphate vs. (99m)Tc-hydroxymethylene diphosphonate for cardiac amyloid radionuclide imaging. (2026/02/01) ♡
- Relationship between amyloid choroidopathy and neurological involvement severity scores in transthyretin amyloidosis. (2026/02/01) ♡
- Expert Consensus Recommendations for the Diagnosis of Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN) in Chile. (2026/02/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Tissue characterization in cardiac amyloidosis: a joint consensus document by the gruppo di studio di cardiopatologia (SIAPEC) and the SIC/ANMCO Italian cardiac amyloidosis network (RIAC). (2026/02/01) ♡
- First-Generation TTR Silencing Therapies in Hereditary Transthyretin Amyloidosis With Polyneuropathy: Real-World Insights From a German Single-Referral Center. (2026/02/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Coramitug, a Humanized Monoclonal Antibody for the Treatment of Transthyretin Amyloid Cardiomyopathy: A Phase 2, Randomized, Multicenter, Double-Blind, Placebo-Controlled Trial. (2026/01/27) ♡
- Mass spectrometry footprinting reveals how kinetic stabilizers counteract transthyretin dynamics altered by pathogenic mutations. (2026/01/06) ♡
- Combination therapy with SGLT2-inhibitors and tafamidis in transthyretin cardiomyopathy. (2026/01/01) ♡
- Left ventricular wall thickness and derived parameters in cardiac amyloidosis. (2026/01/01) ♡
- Nerve ultrasound in asymptomatic hereditary transthyretin amyloidosis carriers. (2026/01/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Monitoring Disease Progression in Patients With Transthyretin Amyloid Cardiomyopathy. (2026/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Global Longitudinal Strain for Prognostic Staging in Wild-Type Transthyretin Cardiac Amyloidosis. (2026/01/01) ♡
- Diagnostic Performance and Interpreter Experience of 1-Hour Versus 3-Hour (99m)Tc-HMDP Cardiac Amyloid Radionuclide Imaging: A Prospective, Blinded Comparison. (2026/01/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. ATTR-CM: What do we know about blood levels of the TTR protein? A discussion with experts. (2026/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Comments on "Neurological efficacy and safety of RNA therapeutics in hereditary transthyretin amyloidosis: a systematic review and meta-analysis of randomized controlled trials". (2026/01/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE) (2026-08-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiovascular Multimodality Imaging Study (2026-08-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Non-Interventional Study on the Prevalence of Cardiac Amyloidosis in Patients With Higher-Grade Aortic Valve Stenosis - Evaluation Using Echocardiography, Computed Tomography, Tc99-SPECT/CT and Cardiac Magnetic Resonance Imaging (CMR) (2026-08-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Implementation of Standardized Early Identification and Diagnosis for Transthyretin Amyloidosis (ATTR) in High-Risk Populations (2026-08-07) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant (2026-08-04) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Efficacy of [18F]Florbetaben PET for Diagnosis of Cardiac AL Amyloidosis (2026-08-03) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Test-retest Study With [18F]FBB in Cardiac Amyloidosis (2026-08-03) ♡
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