Long-Term Outcomes of Tafamidis Treatment for Transthyretin Amyloid Cardiomyopathy in Two Patients.

Tafamidis is the only currently available disease-modifying agent for transthyretin amyloid cardiomyopathy (ATTR-CM); however, reports on its long-term efficacy, safety, and longitudinal cardiac parameter outcomes are lacking. Herein, we present 2 cases of wild-type ATTR-CM receiving tafamidis for 9 years, in which serial long-term follow-up data were obtained. In both cases, tafamidis treatment was continued without any adverse effects, and no hospitalization due to heart failure occurred.

Early Diagnosis of WEBINO (Wall-Eyed Bilateral Internuclear Ophthalmoplegia) Syndrome Using Thin-Slice Gapless Diffusion-Weighted Imaging in an Acute Ischemic Stroke Patient: A Case Report.

We report a case of acute ischemic stroke presenting as wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome. A 71-year-old woman experienced transient diplopia, followed by the sudden onset of binocular misalignment, gait instability, and nausea. Neurological examination demonstrated exotropia and bilateral adduction impairment, consistent with WEBINO syndrome.

Early experience with daratumumab-containing regimens in patients with light-chain cardiac amyloidosis.

Background: Immunoglobulin light-chain (AL) amyloidosis is a lethal condition resulting from misfolded immunoglobulin ALs produced by clonal CD38-positive plasma cells. Treatment with daratumumab, an anti-human CD38 monoclonal antibody, led to higher frequencies of complete hematologic response and better clinical outcomes compared with conventional treatment. This study sought to evaluate the survival benefit of daratumumab-containing regimens in patients with AL cardiac amyloidosis.

Arginine: A potential prophylactic supplement for transthyretin amyloidosis.

Transthyretin (TTR) is an amyloidogenic protein associated with TTR amyloidosis (ATTR). Dissociation of TTR tetramers into TTR monomers causes TTR misfolding, resulting in amyloid fibril formation and triggering the onset of ATTR. Low-molecular-weight tetrameric TTR stabilizers are potential therapeutic agents to delay ATTR progression.

Wild-Type Transthyretin Amyloidosis With 99mTc-PYP Uptake in the Extracardiac Soft Tissues But Not in the Myocardium.

Wild-type transthyretin amyloid (ATTRwt) deposits in most organs, mainly the heart, ligaments, and tenosynovium. Orthopedic diseases due to ATTRwt deposits often precede overt ATTRwt cardiomyopathy. 99mTc-PYP scintigraphy is highly sensitive in detecting myocardial and extracardiac ATTRwt deposits.

Efgartigimod treatment for generalized myasthenia gravis: a single-center case series of 16 patients.

Background: Efgartigimod was approved in Japan in January 2022 for the treatment of generalized myasthenia gravis (gMG), regardless of antibody status. This case series describes a real-world experience in Japan of efgartigimod treatment for gMG patients with diverse backgrounds.

Methods: We retrospectively analyzed the medical records of 16 Japanese patients (11 females and five males, mean age 40.

Percutaneous Cerebral Angioplasty for Refractory Middle Cerebral Artery Stenosis Due to Varicella-Zoster Virus-Related Vasculopathy: A Case Report.

An 81-year-old man was admitted to our hospital with left hemiplegia after treatment for herpes zoster of the first branch of the right trigeminal nerve. CSF examination revealed an elevated varicella-zoster virus (VZV) antibody index. Brain MRI showed cerebral infarction in the right middle cerebral artery (MCA) territory and vessel wall thickening and enhancing effects at the ipsilateral MCA.

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.

ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.

Delayed cerebral complications associated with endovascular catheter coil embolization for pulmonary venous shunts mimicking cerebral inflammatory diseases.

Introduction: Hydrophilic polymer embolism in the brain is a delayed complication of cerebral angiography or endovascular therapy. Herein, we report a rare case of a hydrophilic polymer embolism in the brain due to endovascular catheter coil embolization of pulmonary venous shunts.

Case Report: A 16-year-old female presented with headache, dizziness, nausea, and dysesthesia in the left upper limb.

Coexisting transthyretin and atrial natriuretic peptide amyloid on left atrium in transthyretin amyloid cardiomyopathy.

Unlabelled: Atrial amyloidosis is primarily caused by atrial natriuretic peptide (ANP) amyloid deposition. The main precursor protein causing cardiac amyloidosis is transthyretin (TTR), also known as TTR amyloid cardiomyopathy (ATTR-CM). A 73-year-old man, who presented with external dyspnea, was diagnosed with decompensated heart failure due to atrial fibrillation and severe mitral regurgitation.

Cardiac Biomarker Change at 1 Year After Tafamidis Treatment and Clinical Outcomes in Patients With Transthyretin Amyloid Cardiomyopathy.

Background: Although tafamidis treatment improves prognosis in patients with wild-type transthyretin amyloid cardiomyopathy, an optimal surrogate marker monitoring its therapeutic effect remains unclear. This study investigated the association between changes in cardiac biomarkers, high-sensitivity cardiac troponin T (hs-cTnT) and B-type natriuretic peptide (BNP) during the first year after tafamidis treatment and clinical outcomes.

Methods And Results: In 101 patients with wild-type transthyretin amyloid cardiomyopathy receiving tafamidis at our institution, change in cardiac biomarkers from baseline to 1 year after tafamidis administration and its association with composite outcomes (composite of all-cause death and hospitalization attributable to heart failure) was assessed.

Clinical characteristics of patients with high extracellular volume fraction evaluated by cardiac computed tomography for coronary artery evaluation.

Aims: This study aims to evaluate the distribution of extracellular volume fraction detected via computed tomography, clinical characteristics of high extracellular volume fraction detected via computed tomography, and the rate of incidental detection of cardiac amyloidosis in patients undergoing cardiac computed tomography for coronary artery evaluation.

Methods And Results: This study included 874 consecutive patients (mean age, 74.4 ± 7.

[AL Amyloidosis].

AL amyloidosis, derived from amyloidogenic immunoglobulin light chains, is a common type of systemic amyloidosis. Peripheral neuropathy has been identified in 10%-40% of patients with systemic AL amyloidosis. Definitive diagnosis requires tissue biopsies, including skin, fat, and gastrointestinal samples, as well as amyloid typing.

Development of Benziodarone Analogues with Enhanced Potency for Selective Binding to Transthyretin in Human Plasma.

Transthyretin amyloidosis is a fatal disorder caused by transthyretin amyloid aggregation. Stabilizing the native structure of transthyretin is an effective approach to inhibit amyloid aggregation. To develop kinetic stabilizers of transthyretin, it is crucial to explore compounds that selectively bind to transthyretin in plasma.

Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.

We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese female was referred to our hospital with a gait disturbance that gradually worsened after the age of 50. She had bilateral equinus foot deformity since early childhood.

Efficacy of Computed Tomography-Based Evaluation of Myocardial Extracellular Volume Combined With Red Flags for Early Screening of Concealed Cardiac Amyloidosis in Patients With Atrial Fibrillation.

Background: The prevalence of transthyretin amyloid cardiomyopathy (ATTR-CM) in atrial fibrillation (AF) patients remains unclear. We explored the efficacy of computed tomography-based myocardial extracellular volume (CT-ECV) combined with red flags for the early screening of concealed ATTR-CM in AF patients undergoing catheter ablation.

Methods and results: Patients referred for AF ablation at Oita University Hospital were prescreened using the red-flag signs defined by echocardiographic or electrocardiographic findings, medical history, symptoms, and blood biochemical findings.

Bilateral Hilar and Mediastinal Lymphadenopathy as an Initial Manifestation of Amyloidosis.

A 75-year-old male visited our hospital with bilateral hilar lymph node swelling detected on chest radiography during an annual medical checkup. Chest computed tomography revealed swelling of multiple hilar mediastinal lymph nodes. Histopathological and immunohistochemical examinations of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) specimens from the hilar lymph nodes revealed amyloid deposition.