Diagnostic Tools for Cardiac Amyloidosis: A Pragmatic Comparison of Pathology, Imaging and Laboratories.

2022 ◽  
pp. 101106
Author(s):  
Abdulaziz Joury ◽  
Christian Faaborg-Andersen ◽  
Raymundo A. Quintana ◽  
Adrian daSilva-deAbreu ◽  
Jose Nativi-Nicolau
Keyword(s):  
Cardiac Amyloidosis ◽  
Diagnostic Tools

scholarly journals From Clinical Clues to Final Diagnosis: The Return of Detective Work to Clinical Medicine in Cardiac Amyloidosis

2021 ◽  
Vol 8 ◽  
Author(s):  
Hani Sabbour ◽  
Khwaja Yousuf Hasan ◽  
Firas Al Badarin ◽  
Haluk Alibazoglu ◽  
Andrew L. Rivard ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Clinical Medicine ◽  
Imaging Techniques ◽  
Diagnostic Algorithm ◽  
Signs And Symptoms ◽  
Final Diagnosis ◽  
Diagnostic Tools ◽  
Case Examples ◽  
Non Invasive ◽  
High Index Of Suspicion

Cardiac amyloidosis is frequently misdiagnosed, denying patients the opportunity for timely and appropriate management of the disease. The purpose of this review and case studies is to raise awareness of the diagnostic “red flags” associated with cardiac amyloidosis and the currently available non-invasive strategies for diagnosis. The review focuses on the identification of one of the two main types of cardiac amyloidosis, transthyretin amyloid cardiomyopathy, and non-invasive tools to distinguish this from light-chain amyloidosis. A diagnostic algorithm centered around the use of non-invasive imaging and laboratory analysis is presented. The algorithm generates four differential diagnoses for patients presenting with signs and symptoms consistent with cardiac amyloidosis. Case examples are presented, representing the four potential outcomes of diagnosis using the algorithm. The review provides a guide on how to recognize the often-overlooked presentations of this disease in clinical practice. Non-invasive imaging techniques and diagnostic tools that do not require the involvement of a specialty center have allowed for the improved diagnosis of cardiac amyloidosis. Timely diagnosis of this life-threatening disease is essential for optimal management and it is imperative that clinicians have a high index of suspicion for patients presenting with “red flag” symptoms.

scholarly journals 501 Investigating the epidemiology of cardiac amyloidosis: design of the ‘cardiac amyloidosis registry’ (CARRY)

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Giuseppe Vergaro ◽  
Vincenzo Castiglione ◽  
Giulia Elena Mandoli ◽  
Alberto Aimo ◽  
Francesco Cappelli ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Large Scale ◽  
Amyloid Fibrils ◽  
Clinical Laboratory ◽  
High Sensitivity ◽  
Diagnostic Procedures ◽  
Final Diagnosis ◽  
Diagnostic Tools ◽  
Case Report Form ◽  
Prospective Multicentre Study

Abstract Aims Amyloidosis are a group of diseases characterized by the extracellular deposition of amyloid fibrils. The two most common forms of cardiac amyloidosis (CA) are caused by the accumulation of immunoglobulin light-chains (AL) or transthyretin (ATTR). While previously considered as a rare disease, increased awareness and recent advances in diagnostic tools have shown that prevalence of CA is likely underestimated. Nonetheless, large-scale population registries of CA, also focusing on the pathways leading to the final diagnosis, are still missing. Methods and results The Cardiac Amyloidosis RegistRY (CARRY) is an observational, prospective, multicentre study endorsed by the Italian Society of Cardiology (Sezione Regionale Tosco-Umbra), collecting data from in- and outpatients referred with the clinical suspicion of CA. Clinical, laboratory (including natriuretic peptides and high-sensitivity troponins), and echocardiographic data at enrollment will be collected. Detailed information about the diagnostic procedures up to the final diagnosis of either CA or mimicking conditions will be registered. Patients with a diagnosis of CA will be followed up, and the baseline assessment will be repeated at 1-year (Figure). Twenty centres in Tuscany and Umbria, including amyloidosis referral centres as well as second-level Hospitals, are contributing to the CARRY registry. A common, web-based, case report form is being used for data collection. Recruitment begun in July 2021 and will end in July 2022. The first interim analysis is planned in January 2022. Conclusions The CARRY registry is expected to give novel information on the epidemiology of CA, with a focus on the incidence and diagnostic pathways of CA in Tuscany and Umbria, setting the bases for a larger nationwide registry. Clarification of the epidemiology of CA through the data from the CARRY registry may prove useful in the next future for either clinicians and policy makers. FigureStudy flow chart of the CARRY registry.

scholarly journals Revisiting transthyretin related cardiac amyloidosis: Case report and review of literature

2018 ◽  
Author(s):  
Munish Sharma ◽  
Eduard Koman ◽  
Gary S. Ledley ◽  
Sung-Hae Cho
Keyword(s):  
Cardiac Amyloidosis ◽  
Cardiac Involvement ◽  
Treatment Strategies ◽  
Conduction System ◽  
Clinical Suspicion ◽  
Diagnostic Tools ◽  
Review Of Literature ◽  
Artery Disease ◽  
Worse Prognosis ◽  
Restrictive Pattern

Amyloidosis is a complex group of disorders that can involve many organs and cause their dysfunction. Cardiac involvement indicates worse prognosis and influences treatment strategies. Cardiac amyloidosis is an under-diagnosed entity and high index of clinical suspicion and careful interpretation of basic diagnostic tools such as electrocardiogram and echocardiography is needed for early detection. Congestive heart failure due to restrictive pattern and/or conduction system abnormality, in absence of coronary artery disease should raise suspicion. We present a case of transthyretin related cardiac amyloidosis and discuss the key clinical and diagnostic findings along with review of existing literature regarding its management and outcomes.

Developing an Effective Framework for the Augmentative and Alternative Communication Evaluation Process

2014 ◽  
Vol 23 (2) ◽  
pp. 91-98 ◽  
Author(s):  
Celeste R. Helling ◽  
Jamila Minga
Keyword(s):  
Augmentative And Alternative Communication ◽  
Evaluation Process ◽  
Assessment Process ◽  
Diagnostic Tools ◽  
Alternative Communication ◽  
Complex Communication Needs ◽  
Expressive Communication ◽  
Communication Evaluation ◽  
Communication Needs

A comprehensive augmentative and alternative communication (AAC) evaluation is critical to providing a viable means of expressive communication for nonverbal people with complex communication needs. Although a number of diagnostic tools are available to assist AAC practitioners with the assessment process, there is a need to tailor the evaluation process to the specific communication needs of the AAC user. The purpose of this paper is to provide a basis for developing an effective and clinically driven framework for approaching a user-tailored AAC evaluation process.

Gastroesophageal Reflux Disease: A Gastroenterologist's Perspective

2011 ◽  
Vol 21 (3) ◽  
pp. 89-99
Author(s):  
Michael F. Vaezi
Keyword(s):  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Reflux Disease ◽  
Best Practice ◽  
Clinical Care ◽  
Diagnostic Testing ◽  
Diagnostic Tools ◽  
Swallowing Function ◽  
Atypical Symptoms

Gastroesophageal reflux disease (GERD) is a commonly diagnosed condition often associated with the typical symptoms of heartburn and regurgitation, although it may present with atypical symptoms such as chest pain, hoarseness, chronic cough, and asthma. In most cases, the patient's reduced quality of life drives clinical care and diagnostic testing. Because of its widespread impact on voice and swallowing function as well as its social implications, it is important that speech-language pathologists (SLPs) understand the nature of GERD and its consequences. The purpose of this article is to summarize the nature of GERD and GERD-related complications such as GERD-related peptic stricture, Barrett's esophagus and adenocarcinoma, and laryngeal manifestations of GERD from a gastroenterologist's perspective. It is critical that SLPs who work with a multidisciplinary team understand terminology, diagnostic tools, and treatment to ensure best practice.

Molecular genetic markers for thyroid FNAB

2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt
Keyword(s):  
Genetic Markers ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Diagnostic Tools ◽  
Ultrasound Screening ◽  
Thyroid Malignancy ◽  
Thyroid Carcinomas ◽  
Molecular Genetic Markers ◽  
The Impact

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.

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