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 Diagnosis and treatment of cardiac amyloidosis: position statement of the German Cardiac Society (DGK)

2021 ◽  
Author(s):  
A. Yilmaz ◽  
J. Bauersachs ◽  
F. Bengel ◽  
R. Büchel ◽  
I. Kindermann ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Imaging Techniques ◽  
Diagnostic Algorithm ◽  
Position Statement ◽  
Histopathological Diagnosis ◽  
Wild Type ◽  
Non Invasive ◽  
Specific Serum ◽  
Conventional Echocardiography ◽  
Cardiac Society

AbstractSystemic forms of amyloidosis affecting the heart are mostly light-chain (AL) and transthyretin (ATTR) amyloidoses. The latter is caused by deposition of misfolded transthyretin, either in wild-type (ATTRwt) or mutant (ATTRv) conformation. For diagnostics, specific serum biomarkers and modern non-invasive imaging techniques, such as cardiovascular magnetic resonance imaging (CMR) and scintigraphic methods, are available today. These imaging techniques do not only complement conventional echocardiography, but also allow for accurate assessment of the extent of cardiac involvement, in addition to diagnosing cardiac amyloidosis. Endomyocardial biopsy still plays a major role in the histopathological diagnosis and subtyping of cardiac amyloidosis. The main objective of the diagnostic algorithm outlined in this position statement is to detect cardiac amyloidosis as reliably and early as possible, to accurately determine its extent, and to reliably identify the underlying subtype of amyloidosis, thereby enabling subsequent targeted treatment.

scholarly journals Cardiac amyloidosis: a review of the literature and a practical approach for the clinicians

2019 ◽  
Vol 13 (2) ◽  
pp. 73-90 ◽  
Author(s):  
Annalisa Angelini ◽  
Francesca Zanco ◽  
Chiara Castellani ◽  
Andrea Di Francesco ◽  
Mila Della Barbera ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Imaging Techniques ◽  
Systemic Disease ◽  
Treatment Strategies ◽  
Diagnostic Methods ◽  
Review Of The Literature ◽  
Cardiac Tissues ◽  
Non Invasive ◽  
Precursor Proteins ◽  
Recent Treatment

Amyloidosis is a group of progressive and devastating disorders resulting from misfolded proteins extracellular deposition into tissues. When deposition of fibrils occurs in cardiac tissues, this systemic disease can lead to a very poor prognosis. In this review, we focused on the most common types of cardiac amyloidosis and their treatments. Early diagnosis remains critically important, and here we reviewed the diagnostic methods adopted starting from the non-invasive imaging techniques to more invasive approaches, and the typing of precursor proteins. Typing the different misfolding proteins is mandatory since therapy differs accordingly and thus guiding therapy. We highlighted the most updated and recent treatment strategies to cure amyloidosis.

scholarly journals Extramedullary Plasmacytoma in the Maxillary Sinus

2009 ◽  
Vol 24 (2) ◽  
pp. 27-31
Author(s):  
Jennifer De Silva-Leonardo ◽  
Rosario R. Bito-Ricalde ◽  
Jose Roberto V. Claridad ◽  
Erasmo Gonzalo DV. Llanes
Keyword(s):  
Multiple Myeloma ◽  
Maxillary Sinus ◽  
Plasma Cell ◽  
Systemic Disease ◽  
Signs And Symptoms ◽  
Final Diagnosis ◽  
Extramedullary Plasmacytoma ◽  
Complete Excision ◽  
Left Maxillary Sinus ◽  
High Index Of Suspicion

Objective: To describe an intranasal mass initially diagnosed and treated as benign, that eventually turned out to be a malignant extramedullary plasmacytoma of the maxillary sinus, and to review the literature on its presenting signs and symptoms, diagnosis, management and pathophysiology. Methods: Design: Case Report  Setting: Tertiary Public Hospital Patient: One Results: A 45-year-old male with persistent nasal obstruction and intermittent epistaxis underwent several biopsies of a mass shown on computed tomography scans as heterogeneously enhancing, expansile, occupying the left maxillary sinus with extension into the left nasal cavity with areas of erosion.  Immunohistochemical staining was negative for cytokeratin (CK) and leukocyte common antigen (LCA). Complete excision yielded a final histopathologic interpretation of plasmacytoma. Laboratory examinations excluded multiple myeloma. The final diagnosis was extramedullary plasmacytoma and he was treated with post-operative adjuvant radiotherapy.  Conclusion:  Plasmacytoma may present in the sinu-nasal region and be part of a systemic disease like multiple myeloma. A high index of suspicion and thorough initial histopathological work-up may help in establishing a definitive diagnosis and providing optimum treatment. Keywords: Plasmacytoma, plasma cell tumor, multiple myeloma, plasma cell myeloma, extramedullary plasmacytoma

scholarly journals Subhepatic Appendicitis: A diagnostic conundrum

2021 ◽  
Author(s):  
Biji Thomas George ◽  
Youmna Ayman ◽  
Hadi Zafar ◽  
Godfred Menezes
Keyword(s):  
Acute Appendicitis ◽  
Inflammatory Diseases ◽  
Final Diagnosis ◽  
Diagnostic Tools ◽  
Biliary Colic ◽  
Emergency Setting ◽  
Patients At Risk ◽  
Atypical Presentations ◽  
The Right ◽  
High Index Of Suspicion

One of the most common presentations of acute abdominal pain in the emergency setting is appendicitis. Although it can occur in both genders, when it comes to females with appendicitis, reaching a definite diagnosis can be challenging as it can mimic other diseases such as ovarian cysts/torsions, pelvic inflammatory diseases, endometriosis, and urinary tract infection or physiological reasons like menstrual pain which are exclusive to females and can occur as frequently as appendicitis. Therefore, it is crucial to make an accurate diagnosis as early as possible with the right diagnostic tools to reduce morbidity and mortality in females of child-bearing age. This is a summarized case report of an adolescent female who experienced two atypical attacks of appendicitis 1 year apart. Since the patient had mainly right upper flank pain associated with nausea, vomiting, and fever with a largely non-tender abdomen, various diagnoses such as chronic cholecystitis, biliary colic, peptic ulcer, gastroenteritis, mesenteric lymphadenitis, renal colic, mittelschmerz, and torsion of ovarian cyst were considered and treated for. The patient had no relief and underwent numerous investigative procedures in the 2 years she suffered from her illness. The final diagnosis was only obtained when exploratory laparoscopy was performed. This article aims to remind clinicians to have a high index of suspicion for acute appendicitis in all atypical presentations of acute appendicitis. The latest WSES Jerusalem guidelines for the workup for patients at risk of acute appendicitis should be meticulously followed.

Multimodality imaging for the diagnosis of infiltrative cardiomyopathies

Heart ◽  
2021 ◽  
pp. heartjnl-2020-318001
Author(s):  
Mahesh K Vidula ◽  
Paco E Bravo
Keyword(s):  
Iron Overload ◽  
Cardiac Amyloidosis ◽  
Cardiac Sarcoidosis ◽  
Multimodality Imaging ◽  
Imaging Techniques ◽  
Nuclear Imaging ◽  
Non Invasive ◽  
Iron Overload Cardiomyopathy ◽  
Appropriate Treatment ◽  
Infiltrative Cardiomyopathies

Infiltrative cardiomyopathies result from the deposition or anomalous storage of specific substances in the heart, leading to impaired cardiac function and heart failure. In this review, we describe the utility of a variety of imaging modalities for the diagnosis of infiltrative cardiomyopathies and provide algorithms for clinicians to use to evaluate patients with these disorders. We have divided infiltrative cardiomyopathies into two different categories: (1) infiltrative cardiomyopathies characterised by increased wall thickness (eg, cardiac amyloidosis and Anderson-Fabry disease (AFD)) and (2) infiltrative cardiomyopathies that can mimic ischaemic or dilated cardiomyopathies (eg, cardiac sarcoidosis (CS) and iron overload cardiomyopathy). Echocardiography is the first modality of choice for the evaluation of cardiomyopathies in either category, and the differential can be narrowed using cardiac magnetic resonance (CMR) and nuclear imaging techniques. The diagnosis of cardiac amyloidosis is supported with key findings seen on echocardiography, CMR and nuclear imaging, whereas AFD can be suggested by unique features on CMR. CMR and nuclear imaging are also important modalities for the diagnosis of CS, while iron overload cardiomyopathy is mostly diagnosed using tissue characterisation on CMR. Overall, multimodality imaging is necessary for the accurate non-invasive diagnosis of infiltrative cardiomyopathies, which is important to ensure appropriate treatment and prognostication.

scholarly journals Comparison of the Effectiveness of Portable Ultrasound vs Portable X-Ray as Diagnostic Imaging of Knee Structures in Clinical Medicine

2020 ◽  
pp. 41-50
Author(s):  
Samira Abdul Wajid ◽  
Samith Ahmed ◽  
Vaugn Devera ◽  
Devin Dickerson ◽  
Austin Thompson ◽  
...  
Keyword(s):  
Systematic Review ◽  
Ultrasound Imaging ◽  
Diagnostic Tool ◽  
Gold Standard ◽  
Clinical Medicine ◽  
Imaging Techniques ◽  
Knee Injuries ◽  
Diagnostic Tools ◽  
Portable Ultrasound ◽  
X Ray

Background: Imaging techniques are providing physicians an opportunity to ensure more accurate diagnostics. While MRI and CT are the gold standard diagnostic tools, they are not utilized as primary diagnostic tools due to their size, immobility, and exposure to radiation. It is not always feasible or practical to wait for a technician in an emergency department to conduct these examinations. As technology continues to advance, diagnostic tools are becoming more portable. X-ray and ultrasound are utilized to diagnose, as well as exclude potential causes of illness. Our objective is to determine which diagnostic tool is more efficient in diagnosing patella/knee injuries. Methods: This systematic review aims to determine which diagnostic tool is more efficient at diagnosing injuries. By collecting and reviewing existing research to compare the limitations of injury detection, the accessibility and portability of both diagnostic machines, the safety in regards to radiation exposure to patient and physician, the reliability of the diagnoses, and the costs of each machine Results: Of the reviewed articles, 58% of the articles focusing on knee injuries indicated that ultrasound imaging is a superior diagnostic instrument due to its efficacy and accessibility. When comparing ultrasound to x-ray directly, it was shown that ultrasound is a more precise diagnostic tool. Conclusion: Ultrasound imaging is a more effective diagnostic tool than x-ray. It is better able to diagnose bone, soft tissue, and vessel injuries. It is a safer tool for both the patient and the physician because it uses sound rather than radiation to produce an image. It is also more accessible as advances in technology have made portable ultrasounds a protocol for quick assessments of injuries.

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 IMAGING TECHNIQUES IN THE DIAGNOSIS OF PULMONARY HYPERTENSION

2020 ◽  
Vol 73 (9) ◽  
pp. 1867-1869
Author(s):  
Weronika Topyła ◽  
Michał Tomaszewski ◽  
Agnieszka Wojtkowska ◽  
Sylwia Łukasik ◽  
Andrzej Wysokiński ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Clinical Symptoms ◽  
Imaging Techniques ◽  
Diagnostic Algorithm ◽  
Right Heart Catheterization ◽  
Diagnostic Process ◽  
Heart Catheterization ◽  
Hypertension Detection ◽  
Pulmonary Hemodynamics ◽  
Non Invasive

Introduction: Pulmonary hypertension is defined as being a haemodynamic state, wherein the mean pulmonary artery pressure measured during right heart catheterization is equal or greater than 25 mmHg. As a result, right ventricular heart failure develops and clinical symptoms such as dyspnea, fatigue, weakness, angina and fainting occur. The aim: To highlight the role of imaging techniques in diagnostic process for pulmonary hypertension. Review and Disscusion: The diagnosis of pulmonary hypertension is multistage and often requires a number of studies. Currently, imaging techniques play a significant role in the diagnostic algorithm for pulmonary hypertension due to the fact that they are non-invasive and readily available, and many of their parameters are closely related to pulmonary hemodynamics. Conclusions: The diagnosis of pulmonary hypertension requires a multistep approach and a number of imaging studies. The suspicion of the disease is based on medical history, clinical symptoms and chest radiogram. Echocardiography plays a crucial role in pulmonary hypertension detection. A computed tomography and cardiac magnetic resonanceare valuable methods in determining the cause of suspected or confirmed pulmonary hypertension.

Imaging Techniques As An Aid In The Early Detection Of Cardiac Amyloidosis

2020 ◽  
Vol 26 ◽  
Author(s):  
M.F. Santarelli ◽  
M. Scipioni ◽  
D. Genovesi ◽  
A. Giorgetti ◽  
P. Marzullo ◽  
...  
Keyword(s):  
Early Detection ◽  
Early Diagnosis ◽  
Cardiac Amyloidosis ◽  
Imaging Techniques ◽  
Myocardial Biopsy ◽  
Immunoglobulin Light Chain ◽  
Transthyretin Amyloidosis ◽  
Non Invasive ◽  
Immunoglobulin Light Chain Amyloidosis

: The idea that performing a proper succession of imaging tests and techniques allows an accurate and early diagnosis of cardiac amyloidosis, avoiding the need to perform myocardial biopsy, is becoming increasingly popular. Furthermore, being imaging techniques non-invasive, it is possible to perform the follow-up of the pathology through repeated image acquisitions. In the present review, the various innovative imaging methodologies are presented, and it is discussed how they have been applied for early diagnosis of cardiac amyloidosis (CA), also to distinguish the two most frequent subtypes in CA: immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR); this allows to perform the therapy in a targeted and rapid manner.

scholarly journals Usefulness of Lung Ultrasound in Paediatric Respiratory Diseases

Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1783
Author(s):  
Francesco Sansone ◽  
Marina Attanasi ◽  
Paola Di Filippo ◽  
Giuseppe Francesco Sferrazza Papa ◽  
Sabrina Di Pillo ◽  
...  
Keyword(s):  
Respiratory Diseases ◽  
Lung Ultrasound ◽  
Imaging Techniques ◽  
Point Of Care ◽  
Signs And Symptoms ◽  
Diagnostic Tools ◽  
X Ray ◽  
Chest X Ray ◽  
Ionizing Radiations

Respiratory infection diseases are among the major causes of morbidity and mortality in children. Diagnosis is focused on clinical presentation, yet signs and symptoms are not specific and there is a need for new non-radiating diagnostic tools. Among these, lung ultrasound (LUS) has recently been included in point-of-care protocols showing interesting results. In comparison to other imaging techniques, such as chest X-ray and computed tomography, ultrasonography does not use ionizing radiations. Therefore, it is particularly suitable for clinical follow-up of paediatric patients. LUS requires only 5–10 min and allows physicians to make quick decisions about the patient’s management. Nowadays, LUS has become an early diagnostic tool to detect pneumonia during the COVID-19 pandemic. In this narrative review, we show the most recent scientific literature about advantages and limits of LUS performance in children. Furthermore, we discuss the major paediatric indications separately, with a paragraph fully dedicated to COVID-19. Finally, we mention potential future perspectives about LUS application in paediatric respiratory diseases.

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