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Recent advances in the diagnostic methods and therapeutic strategies of transthyretin cardiac amyloidosis
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作者 Christos Kourek Alexandros Briasoulis +5 位作者 Dimitrios E Magouliotis Panagiotis Georgoulias Grigorios Giamouzis Filippos Triposkiadis John Skoularigis Andrew Xanthopoulos 《World Journal of Cardiology》 2024年第7期370-379,共10页
Cardiac amyloidosis is a progressive disease characterized by the buildup of amyloid fibrils in the extracellular space of the heart.It is divided in 2 main types,immunoglobulin light chain amyloidosis and transthyret... Cardiac amyloidosis is a progressive disease characterized by the buildup of amyloid fibrils in the extracellular space of the heart.It is divided in 2 main types,immunoglobulin light chain amyloidosis and transthyretin amyloidosis(ATTR),and ATTR amyloidosis is further divided in 2 subtypes,non-hereditary wild type ATTR and hereditary mutant variant amyloidosis.Incidence and prevalence of ATTR cardiac amyloidosis is increasing over the last years due to the improvements in diagnostic methods.Survival rates are improving due to the development of novel therapeutic strategies.Tafamidis is the only disease-modifying approved therapy in ATTR amyloidosis so far.However,the most recent advances in medical therapies have added more options with the potential to become part of the therapeutic armamentarium of the disease.Agents including acoramidis,eplontersen,vutrisiran,patisiran and anti-monoclonal antibody NI006 are being investigated on cardiac function in large,multicenter controlled trials which are expected to be completed within the next 2-3 years,providing promising results in patients with ATTR cardiac amyloidosis.However,further and ongoing research is required in order to improve diagnostic methods that could provide an early diagnosis,as well as survival and quality of life of these patients. 展开更多
关键词 Transthyretin cardiac amyloidosis Tafamidis Acoramidis Eplontersen Vutrisiran Patisiran
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Cardiac amyloidosis presenting as pulmonary arterial hypertension:A case report
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作者 Ming Gao Wei-Hua Zhang +3 位作者 Zhi-Guo Zhang Na Yang Qian Tong Li-Ping Chen 《World Journal of Clinical Cases》 SCIE 2023年第12期2780-2787,共8页
BACKGROUND Pulmonary hypertension is a rare cardiopulmonary disease,with an insidious onset that usually worsens rapidly.Amyloid light chain(AL)amyloidosis is a rare systemic disease caused by extracellular deposition... BACKGROUND Pulmonary hypertension is a rare cardiopulmonary disease,with an insidious onset that usually worsens rapidly.Amyloid light chain(AL)amyloidosis is a rare systemic disease caused by extracellular deposition of pathologic,insoluble,and proteinaceous fibrils in organs and tissues;however,it is difficult to diagnose given its varied and nonspecific symptoms.To date,rare cases of amyloidosis with pulmonary hypertension have been reported.Of note,the optimal treatments for cardiac amyloidosis complicated with pulmonary hypertension remain unclear.CASE SUMMARY We report a case of a 51-year-old woman who presented with progressively worsening dyspnea.Transthoracic echocardiography indicated severe pulmonary hypertension.Twenty-seven months after first admission,the patient returned with symptoms of progressive heart failure.A myocardial tissue sample stained with Congo red was positive,and the patient was ultimately diagnosed with AL amyloidosis with cardiac involvement.CONCLUSION Although pulmonary hypertension may be idiopathic,it is frequently associated with other conditions.In rare cases,pulmonary hypertension can be a complication of AL amyloidosis,which should be seriously considered in any adult presenting with nonspecific signs or symptoms of cardiac distress. 展开更多
关键词 cardiac amyloidosis Heart involvement Pulmonary hypertension Case report
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Screening for Transthyretin Cardiac Amyloidosis in Patients with Bilateral Carpal Tunnel Syndrome: Identifying Missed Opportunities for Early Detection and Treatment
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作者 Ayman Alsaadi Renato Cerna-Viacava +6 位作者 Liyan Obeidat Shing Chao Johnathan Stephan Charles S. Day Jennifer Cowger Celeste Williams Karthikeyan Ananthasubramaniam 《World Journal of Cardiovascular Diseases》 2023年第7期366-376,共11页
Purpose: Transthyretin cardiac amyloidosis (ATTR-CA) has been linked to many extra-cardiac manifestations including bilateral carpal tunnel syndrome (CTS). The aim of this study is to analyze patients with bilate... Purpose: Transthyretin cardiac amyloidosis (ATTR-CA) has been linked to many extra-cardiac manifestations including bilateral carpal tunnel syndrome (CTS). The aim of this study is to analyze patients with bilateral CTS to identify patients with high-risk features or “red flags” for ATTR-CA, identify if systematic screening was done for ATTR-CA and define opportunities for improved detection. Methods: Out of >5000 patients with bilateral CTS evaluated in a single tertiary care center in Southeast Michigan (2010-2016), we retrospectively studied a focused population of patients: men > 50 years and women > 60 years old with bilateral CTS and atrial fibrillation (n = 295). Baseline demographic, comorbidities, and electrocardiographic and echocardiographic findings were analyzed. A high-risk group suspicious for ATTR-CA was identified as patients with bilateral CTS, atrial fibrillation, and concomitant “red flags” including heart failure and left ventricular hypertrophy. Results: Out of 295 patients, 51.2% were female, 75.6% were White, and 22.4% were African American. Upon comparing the high-risk group (n = 67) with the remaining study population (n = 228), both diagnosis of ATTR-CA and mortality were higher among the high-risk group (7.5% vs 0.4% and 43.3% vs 24.6%, respectively, P = 0.003). Conclusions: A substantial number of bilateral CTS patients had additional “red flags” warranting formal evaluation for ATTR-CA;however, systematic evaluation for cardiac amyloidosis was not performed in many patients. This emphasizes that Multidisciplinary collaboration is needed to create a systematic workflow and to raise awareness amongst cardiologists and other physicians for suspecting ATTR-CA in bilateral CTS patients who have additional “red flags”. 展开更多
关键词 Bilateral Carpal Tunnel Syndrome MORALITY PREVALENCE Red Flags Transthyretin cardiac amyloidosis
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Prognostic value of high-sensitivity cardiac troponin T in patients with en-domyocardial-biopsy proven cardiac amyloidosis 被引量:3
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作者 Geng QIAN Chen WU Yang ZHANG Yun-Dai CHEN Wei DONG Yi-Hong REN 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2014年第2期136-140,共5页
Objective To investigate prognostic predictors of long-term survival of patients with cardiac amyloidosis (CA), and to determine predictive value of high-sensitivity cardiac troponin T (hs-cTnT) in CA patients. Me... Objective To investigate prognostic predictors of long-term survival of patients with cardiac amyloidosis (CA), and to determine predictive value of high-sensitivity cardiac troponin T (hs-cTnT) in CA patients. Methods We recruited 102 consecutive CA cases and followed these patients for 5 years. We described their clinical characteristics at presentation and used a new, high-sensitivity assay to determine the concentration of cTnT in plasma samples from these patients. Results The patients with poor prognosis showed older age (56 ±12 years vs. 50 ±15 years, P=0.022), higher incidences of heart failure (36.92%vs. 16.22%, P=0.041), pericardial effusion (60.00%vs. 35.14%, P=0.023), greater thickness of interventricular septum (IVS) (15 ±4 mm vs. 13 ±4 mm, P=0.034), higher level of hs-cTnT (0.186 ±0.249 ng/mL vs. 0.044 ±0.055 ng/mL, P=0.001) and higher NT-proBNP (N-terminal pro-B-type natriuretic pep-tide) levels (11,742 ± 10,464 pg/mL vs. 6,031 ± 7,458 pg/mL, P=0.006). At multivariate Cox regression analysis, heart failure (HR:1.78, 95%CI:1.09-2.92, P=0.021), greater wall thickness of IVS (HR:1.44, 95%CI:1.04-3.01, P=0.0375) and higher hs-cTnT level (HR:6.16, 95%CI:2.20-17.24, P=0.001) at enrollment emerged as independent predictors of all-cause mortality. Conclusions We showed that hs-cTnT is associated with a very ominous prognosis, and it is also the strongest predictor of all-cause mortality in multivariate analysis. Examination of hs-cTnT concentrations provides valuable prognostic information concerning long-term outcomes. 展开更多
关键词 cardiac amyloidosis Long-term survival Troponin T
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Multi-modality imaging of cardiac amyloidosis: Contemporary update 被引量:2
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作者 Tom Kai Ming Wang Ossama K Abou Hassan +1 位作者 Wael Jaber Bo Xu 《World Journal of Radiology》 CAS 2020年第6期87-100,共14页
Cardiac amyloidosis is a heterogeneous and challenging diagnostic disease with poor prognosis that is now being altered by introduction of new therapies.Echocardiography remains the first-line imaging tool, and when d... Cardiac amyloidosis is a heterogeneous and challenging diagnostic disease with poor prognosis that is now being altered by introduction of new therapies.Echocardiography remains the first-line imaging tool, and when disease is suspected on echocardiography, cardiac magnetic resonance imaging and nuclear imaging play critical roles in the non-invasive diagnosis and evaluation of cardiac amyloidosis. Advances in multi-modality cardiac imaging allowing earlier diagnosis and initiation of novel therapies have significantly improved the outcomes in these patients. Cardiac imaging also plays important roles in the risk stratification of patients presenting with cardiac amyloidosis. In the current review, we provide a clinical and imaging focused update, and importantly outline the imaging protocols, diagnostic and prognostic utility of multimodality cardiac imaging in the assessment of cardiac amyloidosis. 展开更多
关键词 cardiac amyloidosis ECHOCARDIOGRAPHY cardiac magnetic resonance imaging Nuclear imaging
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The eyes are the window to the heart: one case of cardiac amyloidosis with eyelid swelling as the initial symptom
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作者 Ting-Zhi DENG Bai-Qing OU Dao-Quan PENG 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2017年第11期712-714,共3页
Cardiac amyloidoses (CA), a disease caused by the pre- cipitation of amyloid proteins in myocardial extracellular matrix, is difficult to diagnose due to its lack of specific clinical manifestations, and can be easi... Cardiac amyloidoses (CA), a disease caused by the pre- cipitation of amyloid proteins in myocardial extracellular matrix, is difficult to diagnose due to its lack of specific clinical manifestations, and can be easily misdiagnosed.[1] However, due to the recent improved awareness and wide use of biopsy, most patients are now correctly diagnosed prior to death. This report concerns a 59-year-old male who presented with symptoms of double eyelid swelling and chest tightness without obvious causes. 展开更多
关键词 cardiac amyloidosis Eyelid biopsy Ultrasonic cardiogram
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Cardiac Amyloidosis: A Case Report of Seven Patients
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作者 Ngardjibem Djita Ibrahima Sory2 Sylla +11 位作者 Aissatou Barry Murielle Ahodakin Djibril Sylla Elhadj Yaya Balde Mamadou Bachir Bah Houzeiph Abdou Lassissi Alpha Kone Sana Soumra Mamadou Aliou Balde Mariame Beavogui Mamadou Dadhi Balde Noura Feniche 《World Journal of Cardiovascular Diseases》 2022年第3期160-167,共8页
Introduction: Cardiac amyloidosis is a rare and under-diagnosed disease. The objective of this study was to collect cases of cardiac amyloidosis in patients hospitalized in the cardiology department of the Centre Hosp... Introduction: Cardiac amyloidosis is a rare and under-diagnosed disease. The objective of this study was to collect cases of cardiac amyloidosis in patients hospitalized in the cardiology department of the Centre Hospitalier Intercommunal Alen&#231;on-Mamers (CHICAM). Patients and Methods: This was a retrospective descriptive study of the records of patients diagnosed with cardiac amyloidosis. The study took place in the cardiology department of the CHICAM over 12 months (from January 1, 2020 to December 31, 2020). We included the files of patients in whom the diagnosis of cardiac amyloidosis was confirmed on the basis of clinical, echocardiographic, biological, scintigraphic and cardiac MRI evidence. Results: Seven patients were included. The mean age was 86.71 years. Six men for one woman. Most of the patients were in heart failure. There was one case of periorbital ecchymosis. Troponinemia was increased in three patients, NTproBNP was always high with a mean of 1000 ng/L. Cardiac echography showed a hyperbright septum in four cases, concentric hypertrophy of the left ventricle with a mean interventricular septum in diastole of 13.85 mm. Six cases were senile transthyretin amyloidosis (TTR), one case was mutated transthyretin amyloidosis (TTRm). Two cases of death were noted. Conclusion: Cardiac amyloidosis has a poor prognosis due to delayed diagnosis. 展开更多
关键词 cardiac amyloidosis ECHOCARDIOGRAPHY Heart Failure Myocardial Scintigraphy
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Extensive Bi-Atrial Remodeling on Hypertensive Patient with Permanent Atrial Fibrillation Delayed Diagnosis of Fatal Cardiac Lambda Amyloidosis
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作者 Houzéiph Abdou Lassissi Ngardjibem Djita +3 位作者 Ibrahima Sory Sylla Thome Masset Abdelrhani Moumen Sedjolo Emmanuelle Bibiane Kpomalegni 《World Journal of Cardiovascular Diseases》 CAS 2024年第6期409-420,共12页
Background: Amyloidosis is a disease characterized by the deposition of fibrillar proteins in tissues. The nature of the protein defines the type of amyloidosis. Cardiac involvement is most often secondary to deposits... Background: Amyloidosis is a disease characterized by the deposition of fibrillar proteins in tissues. The nature of the protein defines the type of amyloidosis. Cardiac involvement is most often secondary to deposits of transthyretin and immunoglobulin light chains. Treatment depends on the type of amyloidosis. Cardiac light chain amyloidosis is a medical emergency. Aim: To highlight the importance of an early diagnosis of cardiac light chain amyloidosis. Case Presentation: We report the case of an 88-year-old hypertensive female patient with sustained atrial fibrillation and recurrent heart failure, in whom echocardiography showed concentric left ventricle hypertrophy with mildly reduced left ventricle ejection fraction (LVEF) to 45%. Bone scintigraphy was normal. Serum analysis showed increased lambda free light chains. Accessory salivary gland biopsy revealed weak Kappa light chain staining and clear overexpression of lambda light chain deposits. The diagnosis of stage 3B cardiac amyloidosis secondary to lambda light chain myeloma was made. After a multidisciplinary meeting, it was decided to start treatment with DARATUMUMAB + LENALIDOMIDE. Patient’s general condition deteriorated with the occurrence of febrile pancytopenia. Chemotherapy was stopped and management was limited to comfort care until the patient’s death. Conclusion: Cardiac light-chain amyloidosis must be diagnosed early as it can be rapidly fatal. 展开更多
关键词 MYELOMA cardiac Lambda Light Chain amyloidosis Monoclonal Gammopathy Heart Failure
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Diagnostic and prognostic value of cardiac imaging in amyloidosis 被引量:1
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作者 Rafael Vidal-Perez Raquel Vázquez-García +5 位作者 Gonzalo Barge-Caballero Alberto Bouzas-Mosquera Rafaela Soler-Fernandez Jose Maria Larrañaga-Moreira Maria Generosa Crespo-Leiro Jose Manuel Vazquez-Rodriguez 《World Journal of Cardiology》 2020年第12期599-614,共16页
Amyloidosis is an infiltrative disease caused by extracellular protein deposition that has accumulated a lot of scientific production in recent years.Different types of amyloidosis can affect the heart.Transthyretin a... Amyloidosis is an infiltrative disease caused by extracellular protein deposition that has accumulated a lot of scientific production in recent years.Different types of amyloidosis can affect the heart.Transthyretin amyloidosis and light chain amyloidosis are the two most common types of cardiac amyloidosis.These entities have a poor prognosis,so accurate diagnostic techniques are imperative for determining an early therapeutic approach.Recent advances in cardiac imaging and diagnostic strategies show that these tools are safe and can avoid the use of invasive diagnostic techniques to histological confirmation,such as endomyocardial biopsy.We performed a review on the diagnostic and prognostic implications of different cardiac imaging techniques in cardiac amyloidosis.We mainly focus on reviewing echocardiography,cardiac magnetic resonance,computed tomography and nuclear imaging techniques and the different safety measurements that can be done with each of them. 展开更多
关键词 cardiac imaging techniques Transthyretin cardiac amyloidosis Immunoglobulin light-chain amyloidosis ECHOCARDIOGRAPHY Magnetic resonance imaging Nuclear imaging
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Native T_1 mapping for the diagnosis of cardiac amyloidosis: a pilot research
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作者 程召平 《China Medical Abstracts(Internal Medicine)》 2017年第1期34-35,共2页
Objective To explore the potential role of native cardiac T1 mapping by cardiac magnetic resonance for detection of cardiac amyloidosis(CA).Methods Twenty patients with cardiac amyloidosis(with definite cardiac inv... Objective To explore the potential role of native cardiac T1 mapping by cardiac magnetic resonance for detection of cardiac amyloidosis(CA).Methods Twenty patients with cardiac amyloidosis(with definite cardiac involvement based on standard biomarkers and echo cardiographic criteria)were studied at our hospital 展开更多
关键词 Native T1 mapping for the diagnosis of cardiac amyloidosis a pilot research CA HCM
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Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always what they seem 被引量:2
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作者 Die Hu Ling Liu +2 位作者 Shuguang Yuan Yuhong Yi Daoquan Peng 《Frontiers of Medicine》 SCIE CAS CSCD 2017年第2期293-296,F0004,共5页
Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In th... Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias. The patient presented with hypertension, chronic Guillain-Barre syndrome, and sick sinus syndrome. Transthoracic echocardiograms showed a thickened ventricular wall and enlarged atrium. Tissue Doppler showed a restrictive filling pattern. Transthyretin (TTR)-associated amyloidosis, which was revealed by abdominal fat-pad biopsy and DNA analysis, explained the concurrence of independent pathological features, including neuropathy and cardiac involvement. Genetic testing identified a G 〉 T mutation in exon 4 of the transthyretin (TTR) gene. This mutation resulted in the alanine-to-serine substitution at amino acid position 117. Moreover, genetic testing confirmed that the patient's asymptomatic son carried the same amyloidogenic TTR mutation. Given these findings, the diagnosis of familial amyloid cardiomyopathy, which was misdiagnosed as chronic Guillain-Barre syndrome, was proposed. 展开更多
关键词 transthyretin (TTR) cardiac amyloidosis sick sinus syndrome chronic Guillain-Barre syndrome
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