Current Challenges of Cardiac Amyloidosis Awareness among Romanian Cardiologists.
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ABSTRACT:
SUBMITTER: Adam R
PROVIDER: S-EPMC8148147 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:INTRODUCTION:Transthyretin amyloidosis (ATTR) is a progressive disease in which amyloid fibril deposition disrupts tissue structure and organ function. Many patients with ATTR present with cardiac involvement; recent studies indicate that ATTR prevalence is higher than expected in patients with certain heart conditions. Although long delays to diagnosis are common, recent treatment advances have made timely diagnosis critical to ensure appropriate patient management. Despite clinical guideline updates, it remains unclear how these are being implemented in routine patient care. METHODS:We performed a survey of practicing cardiologists in Switzerland to assess their knowledge of ATTR and current clinical practice. RESULTS:Overall, 72 cardiologists completed the questionnaire in a face-to-face interview (n?=?16) or online (n?=?56). Key findings highlighted wide variation in cardiologists' knowledge about the diagnostic tests required for a differential diagnosis of ATTR. In particular, many cardiologists lacked familiarity with radiolabeled bone scintigraphy, an important non-invasive test that is part of the diagnostic algorithm for ATTR. Another challenge in diagnosing amyloidosis appears to be general awareness of ATTR among cardiologists. CONCLUSIONS:Survey results highlight that cardiologists in Switzerland would benefit from information on the latest advances in ATTR to support them in screening heart failure patients and ensure that patients benefit from treatment advances.
| S-EPMC7237604 | biostudies-literature
Project description:Systemic amyloidosis is a rare, heterogenous group of diseases characterized by extracellular infiltration and deposition of amyloid fibrils. Cardiac amyloidosis (CA) occurs when these fibrils deposit within the myocardium. Untreated, this inevitably leads to progressive heart failure and fatality. Historically, treatment has remained supportive, however, there are now targeted disease-modifying therapeutics available to patients with CA. Advances in echocardiography, cardiac magnetic resonance (CMR) and repurposed bone scintigraphy have led to a surge in diagnoses of CA and diagnosis at an earlier stage of the disease natural history. CMR has inherent advantages in tissue characterization which has allowed us to better understand the pathological disease process behind CA. Combined with specialist assessment and repurposed bone scintigraphy, diagnosis of CA can be made without the need for invasive histology in a significant proportion of patients. With existing targeted therapeutics, and novel agents being developed, understanding these imaging modalities is crucial to achieving early diagnosis for patients with CA. This will allow for early treatment intervention, accurate monitoring of disease course over time, and thereby improve the length and quality of life of patients with a disease that historically had an extremely poor prognosis. In this review, we discuss key radiological features of CA, focusing on the two most common types; immunoglobulin light chain (AL) and transthyretin (ATTR) CA. We highlight recent advances in imaging techniques particularly in respect of their clinical application and utility in diagnosis of CA as well as for tracking disease change over time.
| S-EPMC8702802 | biostudies-literature
Project description:Cardiac amyloidosis is a restrictive cardiomyopathy determined by the accumulation of amyloid, which is represented by misfolded protein fragments in the cardiac extracellular space. The main classification of systemic amyloidosis is determined by the amyloid precursor proteins causing a very heterogeneous disease spectrum, but the main types of amyloidosis involving the heart are light chain (AL) and transthyretin amyloidosis (ATTR). AL, in which the amyloid precursor is represented by misfolded immunoglobulin light chains, can involve almost any system carrying the worst prognosis among amyloidosis patients. This has however dramatically improved in the last few years with the increased usage of the novel therapies such as proteasome inhibitors and haematopoietic cell transplantation, in the case of timely diagnosis and initiation of treatment. The treatment for AL is directed by the haematologist working closely with the cardiologist when there is a significant cardiac involvement. Transthyretin (TTR) is a protein that is produced by the liver and is involved in the transportation of thyroid hormones, especially thyroxine and retinol binding protein. ATTR results from the accumulation of transthyretin amyloid in the extracellular space of different organs and systems, especially the heart and the nervous system. Specific therapies for ATTR act at various levels of TTR, from synthesis to deposition: TTR tetramer stabilization, oligomer aggregation inhibition, genetic therapy, amyloid fibre degradation, antiserum amyloid P antibodies, and antiserum TTR antibodies. Treatment of systemic amyloidosis has dramatically evolved over the last few years in both AL and ATTR, improving disease prognosis. Moreover, recent studies revealed that timely treatment can lead to an improvement in clinical status and in a regression of amyloid myocardial infiltration showed by imaging, especially by cardiac magnetic resonance, in both AL and ATTR. However, treating cardiac amyloidosis is a complex task due to the frequent association between systemic congestion and low blood pressure, thrombo-embolic and haemorrhagic risk balance, patient frailty, and generally poor prognosis. The aim of this review is to describe the current state of knowledge regarding cardiac amyloidosis therapy in this constantly evolving field, classified as treatment of the cardiac complications of amyloidosis (heart failure, rhythm and conduction disturbances, and thrombo-embolic risk) and the disease-modifying therapy.
| S-EPMC8318516 | biostudies-literature
Project description: Not available
| S-EPMC8759475 | biostudies-literature
Project description:Transthyretin cardiac amyloidosis (ATTR-CA) is an increasingly recognized cause of heart failure (HF) and mortality worldwide. Advances in non-invasive diagnosis, coupled with the development of effective treatments, have shifted ATTR-CA from a rare and untreatable disease to a relatively prevalent condition that clinicians should consider on a daily basis. Amyloid fibril formation results from age-related failure of homoeostatic mechanisms in wild-type ATTR (ATTRwt) amyloidosis (non-hereditary form) or destabilizing mutations in variant ATTR (ATTRv) amyloidosis (hereditary form). Longitudinal large-scale studies in the United States suggest an incidence of cardiac amyloidosis in the contemporary era of 17 per 100 000, which has increased from a previous estimate of 0.5 per 100 000, which was almost certainly due to misdiagnosis and underestimated. The presence and degree of cardiac involvement is the leading cause of mortality both in ATTRwt and ATTRv amyloidosis, and can be identified in up to 15% of patients hospitalized for HF with preserved ejection fraction. Associated features, such as carpal tunnel syndrome, can preceed by several years the development of symptomatic HF and may serve as early disease markers. Echocardiography and cardiac magnetic resonance raise suspicion of disease and might offer markers of treatment response at a myocardial level, such as extracellular volume quantification. Radionuclide scintigraphy with 'bone' tracers coupled with biochemical tests may differentiate ATTR from light chain amyloidosis. Therapies able to slow or halt ATTR-CA progression and increase survival are now available. In this evolving scenario, early disease recognition is paramount to derive the greatest benefit from treatment.
| S-EPMC9897687 | biostudies-literature
Project description:Cardiac amyloidosis is a form of restrictive cardiomyopathy resulting in heart failure and potential risk on arrhythmia, due to amyloid infiltration of the nerve conduction system and the myocardial tissue. The prognosis in this progressive disease is poor, probably due the development of cardiac arrhythmias. Early detection of cardiac sympathetic innervation disturbances has become of major clinical interest, because its occurrence and severity limits the choice of treatment. The use of iodine-123 labelled metaiodobenzylguanidine ([I-123]MIBG), a chemical modified analogue of norepinephrine, is well established in patients with heart failure and plays an important role in evaluation of sympathetic innervation in cardiac amyloidosis. [I-123]MIBG is stored in vesicles in the sympathetic nerve terminals and is not catabolized like norepinephrine. Decreased heart-to-mediastinum ratios on late planar images and increased wash-out rates indicate cardiac sympathetic denervation and are associated with poor prognosis. Single photon emission computed tomography provides additional information and has advantages for evaluating abnormalities in regional distribution in the myocardium. [I-123]MIBG is mainly useful in patients with hereditary and wild-type ATTR cardiac amyloidosis, not in AA and AL amyloidosis. The potential role of positron emission tomography for cardiac sympathetic innervation in amyloidosis has not yet been identified.
| S-EPMC6394628 | biostudies-literature
Project description:Cardiac involvement has a profound effect on the prognosis of patients with systemic amyloidosis. Therapeutic methods for suppressing the production of causative proteins have been developed for ATTR amyloidosis and AL amyloidosis, which show cardiac involvement, and the prognosis has been improved. However, a method for removing deposited amyloid has not been established. Methods for reducing cytotoxicity caused by amyloid deposition and amyloid precursor protein to protect cardiovascular cells are also needed. In this review, we outline the molecular mechanisms and treatments of cardiac amyloidosis.
| S-EPMC8744761 | biostudies-literature
Project description:Amyloidosis refers to a range of protein misfolding disorders that can cause organ dysfunction through progressive fibril deposition. Cardiac involvement often leads to significant morbidity and mortality and increasingly has been recognized as an important cause of heart failure. The two main forms of cardiac amyloidosis, light chain (AL) and transthyretin (ATTR) amyloidosis, have distinct mechanisms of pathogenesis. Recent insights have led to the development of novel pharmacotherapies with the potential to significantly impact each disease. This review will summarize the preclinical and clinical data for these emerging treatments for AL and ATTR amyloidosis.
| S-EPMC5832446 | biostudies-literature
Project description:Cervical cancer is a leading cause of cancer mortality in nearly all U.S. Affiliated Pacific Island Jurisdictions (USAPIJ); however, most jurisdictions are financially and geographically limited in their capacity to deliver routine screening.We conducted a cross-sectional survey of 72 health care providers from five of the six USAPIJ in 2011 to assess knowledge, beliefs, practices, and perceived barriers regarding routine cervical cancer screening. We compared the responses of providers from jurisdictions that were funded by the Centers for Disease Control and Prevention's National Breast and Cervical Cancer Early Detection Program (NBCCEDP) with those that were not funded.Most providers reported cervical cancer prevention as a priority in their clinical practices (90.3%) and use the Papanicolaou test for screening (86.1%). Many providers reported knowledge of screening guidelines (76.4%); however, more than half reported that annual screening is most effective (56.9%). Providers in non-NBCCEDP-funded jurisdictions reported greater acceptance of visual inspection with acetic acid (93.9%) and self-sampling for human papillomavirus testing (48.5%) compared with NBCCEDP-funded jurisdictions (15.4% and 30.8% respectively). Providers from non-NBCCEDP-funded jurisdictions reported inadequate technological resources for screening women (42.4%), and approximately 25% of providers in both groups believed that screening was cost-prohibitive.Although cervical cancer screening is a priority in clinical practice, beliefs about annual screening, costs associated with screening, and varying levels of support for alternative screening tests pose barriers to providers throughout the USAPIJ. Further exploration of using evidence-based, lower cost, and sustainable screening technologies is warranted in addition to emphasizing timely follow-up of all positive cases.
| S-EPMC3983819 | biostudies-other
Project description:BackgroundEvidence-based campaigns are available to support appropriate diagnostic testing in cardiology, but medico-legal concerns can impede implementation.MethodsWe conducted a retrospective descriptive analysis of medico-legal cases (civil legal, regulatory authority, hospital matters) involving cardiologists in Canada. For eligibility, cases must have closed at the Canadian Medical Protective Association between January 1, 2009 and December 31, 2018. We defined test underuse and overuse using criticisms in the medico-legal record from peer experts, regulatory authorities, or hospitals. We used a contributing factors framework and descriptive statistics for analysis.ResultsFrom 2009 to 2018, the Canadian Medical Protective Association closed 60,598 cases with 368 (0.6%) involving a cardiologist. Within those cases, there was no criticism of cardiac diagnostic test overuse and 15 cases (4.1%) with criticism of underuse (tests not ordered, not expedited, delayed). In 12 of 15 cases of underuse (80.0%), the patient experienced severe harm or death. Of 8 civil legal cases, 6 were decided in favour of the plaintiff (75.0%) and 2 were dismissed by consent before proceeding to trial (25.0%). Decisions on regulatory authority matters did not favour the cardiologist (7 of 7 cases). In all cases of underuse, there was need for focused testing to investigate new or worsening symptoms. The most common contributing factors included clinical decision-making, situational awareness, and communication with teams and patients.ConclusionsMedico-legal cases involving cardiologists and the overuse or underuse of cardiac diagnostic tests were extremely rare in Canada, despite the potential for harm. The criticisms of cardiac diagnostic test underuse related to issues with diagnosing symptomatic patients.
| S-EPMC8129482 | biostudies-literature