scholarly journals Cardiac Amyloidosis

2021 ◽  
Author(s):  
Csilla Andrea Eötvös ◽  
Giorgia Pastiu ◽  
Iulia Zehan ◽  
Cerasela Goidescu ◽  
Roxana Chiorescu ◽  
...  
Keyword(s):  
Protein Misfolding ◽  
Cardiac Amyloidosis ◽  
Clinical Laboratory ◽  
Specific Treatment ◽  
Restrictive Cardiomyopathy ◽  
Al Amyloidosis ◽  
Transthyretin Amyloidosis ◽  
Immunoglobulin Light Chain Amyloidosis ◽  
The Many ◽  
Definition Of

Amyloidosis represents a heterogeneous group of disorders caused by amyloid fibril deposition in the extracellular space in different organs. Among the many types of amyloidosis cardiac involvement occurs almost exclusively with immunoglobulin light chain amyloidosis (AL amyloidosis) or transthyretin amyloidosis (ATTR amyloidosis). When present cardiac amyloidosis (CA) has a significant impact on disease prognosis. The typical clinical presentation in CA is that of a restrictive cardiomyopathy. Clinical suspicion of CA is based on clinical, laboratory and electrocardiographic findings. The diagnosis is confirmed using echocardiography, cardiac magnetic resonance imaging, biopsy, and/or bone scintigraphy. A precise definition of amyloidosis type is essential for choosing the specific treatment for this condition. Treatment of CA has two components: general treatment of congestive HF, and specific treatment of the underlying protein misfolding disorder.

scholarly journals Cardiac Amyloidosis Therapy: A Systematic Review

2021 ◽  
Vol 11 (1) ◽  
pp. 10-17
Author(s):  
Franco Iodice ◽  
Marco Di Mauro ◽  
Marco Giuseppe Migliaccio ◽  
Angela Iannuzzi ◽  
Roberta Pacileo ◽  
...  
Keyword(s):  
Heart Failure ◽  
Systematic Review ◽  
Cardiac Amyloidosis ◽  
Restrictive Cardiomyopathy ◽  
Novel Therapies ◽  
Preserved Ejection Fraction ◽  
Cardiac Damage ◽  
Transthyretin Amyloidosis ◽  
To Come ◽  
Almost All

Heart involvement in Cardiac Amyloidosis (CA) results in a worsening of the prognosis in almost all patients with both light-chain (AL) and transthyretin amyloidosis (ATTR). The mainstream CA is a restrictive cardiomyopathy with hypertrophic phenotype at cardiac imaging that clinically leads to heart failure with preserved ejection fraction (HFpEF). An early diagnosis is essential to reduce cardiac damage and to improve the prognosis. Many therapies are available, but most of them have late benefits to cardiac function; for this reason, novel therapies are going to come soon.

scholarly journals Diagnosis of Cardiac Amyloidosis Using Non-Invasive Technics

2021 ◽  
Author(s):  
Eva Strickler ◽  
Ernest Tsiaze ◽  
Gerrit Hellige ◽  
Dominik Zumstein ◽  
Dominik Waldmeier ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Al Amyloidosis ◽  
Definite Diagnosis ◽  
Diagnostic Features ◽  
Transthyretin Amyloidosis ◽  
Cardiac Amyloid ◽  
Non Invasive ◽  
Amyloid Accumulation ◽  
Clinically Significant ◽  
Multiorgan Disease

Amyloidosis is a rare multiorgan disease defined by a process of irreversible, extracellular accumulation of fibrillar proteins in the tissues, including the heart. Cardiac involvement is seen in most forms of amyloidosis, but it is frequently present and clinically significant in light chain (AL)-amyloidosis as well as transthyretin amyloidosis (ATTR). Cardiac amyloid accumulation leads to a restrictive filling pattern, which must be differentiated from other forms of restrictive and hypertrophic cardiomyopathies due to consequences for the treatment. Evolving knowledge of the disease has led to a definite diagnosis of the cardiac amyloidosis (CA) using non-invasive and low-risk diagnostic features, such as scintigraphy (gamma scan) and cardiovascular magnetic resonance (CMR) imaging using late gadolinium enhancement (LGE) and T1 mapping technics. The availability and diagnostic accuracy of these technics has reduced the need for cardiac biopsy. In the following chapter, we will describe common types of CA, the basic concepts, and updates of non-invasive diagnostic features.

Cardiac amyloidosis

ESC CardioMed ◽  
2018 ◽  
pp. 1545-1549
Author(s):  
Martha Grogan
Keyword(s):  
Heart Failure ◽  
Median Survival ◽  
Cardiac Amyloidosis ◽  
Beta Blockers ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
Wild Type ◽  
Transthyretin Amyloidosis ◽  
Converting Enzyme Inhibitors ◽  
Right Ventricular Wall ◽  
Immunoglobulin Light Chain Amyloidosis

Cardiac amyloidosis is an important cause of heart failure and cardiac arrhythmias, yet cardiologists often miss the diagnosis. Immunoglobulin light-chain amyloidosis (AL) is relatively rare, but likely underdiagnosed. The median survival of untreated patients with cardiac AL is 6 months after the onset of heart failure, highlighting the importance of early diagnosis. Wild-type transthyretin amyloidosis (ATTR) is increasingly recognized, especially in males over the age of 60 years. Although the clinical course of wild-type ATTR is more indolent, the median survival is approximately 3.5 years from diagnosis. Typical echocardiographic findings of increased left and right ventricular wall thickness, diastolic dysfunction, and pericardial effusion may suggest cardiac amyloidosis, along with abnormal delayed gadolinium enhancement and difficulty nulling the myocardium on cardiac magnetic resonance imaging. For AL, a tissue diagnosis is required. In contrast, ATTR may be diagnosed non-invasively with grade 2/3 uptake by nuclear scintigraphy in the absence of a monoclonal protein. Treatment of cardiac amyloidosis is entirely dependent on the type of amyloid and is directed at the underlying precursor protein or disrupting existing deposits. Cardiac care is supportive and challenging. Standard heart failure medications such as beta blockers and angiotensin-converting enzyme inhibitors are not routinely indicated and often cause haemodynamic deterioration. Outcomes of source-directed therapy for AL are improving and several clinical trials of treatment for ATTR are ongoing.

scholarly journals Cardiac Care of Patients with Cardiac Amyloidosis

2020 ◽  
Vol 143 (4) ◽  
pp. 343-351
Author(s):  
Osnat Itzhaki Ben Zadok ◽  
Ran Kornowski
Keyword(s):  
Heart Failure ◽  
Cardiac Amyloidosis ◽  
Management Strategies ◽  
Treatment Strategies ◽  
Multidisciplinary Care ◽  
Cardiac Care ◽  
Immunoglobulin Light Chain ◽  
Transthyretin Amyloidosis ◽  
Immunoglobulin Light Chain Amyloidosis ◽  
Specific Management

Cardiac amyloidosis, the majority of cases of which are due to immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), affects different aspects of the heart and cardiovascular system. Amyloid-induced cardiomyopathy, clinically manifesting with heart failure and electrophysiological abnormalities, has distinct characteristics compared to non-amyloid cardiomyopathies. Accordingly, specific management strategies are required. This paper will review the cardiovascular manifestations of patients with cardiac amyloidosis and their suggested treatment strategies, emphasizing the importance of multidisciplinary care.

scholarly journals AL-amyloidosis with cardiac involvement. Diagnostic capabilities of non-invasive methods

2021 ◽  
Vol 93 (4) ◽  
pp. 487-496
Author(s):  
Alexandra Ya. Gudkova ◽  
Sergei V. Lapekin ◽  
Tinatin G. Bezhanishvili ◽  
Maria A. Trukshina ◽  
Victoria G. Davydova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Cardiac Amyloidosis ◽  
Cardiac Involvement ◽  
Clinical Course ◽  
Al Amyloidosis ◽  
Transthyretin Amyloidosis ◽  
Non Invasive ◽  
Amyloid Cardiomyopathy ◽  
Diagnostic Capabilities ◽  
Invasive Diagnostics

There are presented the literature data and a description of the clinical course of the disease in isolated/predominant cardiac amyloidosis. Amyloid cardiomyopathy is the most common phenocopy of hypertrophic cardiomyopathy. The modern possibilities of non-invasive diagnostics using osteoscintigraphy for the differential diagnosis between amyloid cardiomyopathy caused by AL- and transthyretin amyloidosis are described in detail.

scholarly journals Outcomes in patients with cardiac amyloidosis and implantable cardioverter-defibrillator

EP Europace ◽  
2020 ◽  
Vol 22 (8) ◽  
pp. 1216-1223
Author(s):  
Eun-Jeong Kim ◽  
Benjamin B Holmes ◽  
Shi Huang ◽  
Ricardo Lugo ◽  
Asad Al Aboud ◽  
...  
Keyword(s):  
Primary Prevention ◽  
Implantable Cardioverter Defibrillator ◽  
Cardiac Amyloidosis ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Al Amyloidosis ◽  
Transthyretin Amyloidosis ◽  
Ventricular Ejection Fraction ◽  
Cardioverter Defibrillator ◽  
Significant Difference

Abstract Aims Cardiac amyloidosis (CA) is associated with increased mortality due to arrhythmias, heart failure, and electromechanical dissociation. However, the role of an implantable cardioverter-defibrillator (ICD) remains unclear. We conducted case-control study to assess survival in CA patients with and without a primary prevention ICD and compared outcomes to an age, sex, and device implant year-matched non-CA group with primary prevention ICD. Methods and results There were 91 subjects with CA [mean age= 71.2 ± 10.2, female 22.0%, 49 AL with Mayo Stage 2.9 ± 1.0, 41 transthyretin amyloidosis (ATTR), 1 other] followed by Vanderbilt Amyloidosis centre. Patients with ICD (n = 23) were compared with those without (n = 68) and a non-amyloid group with ICD (n = 46). All subjects with ICD had implantation for primary prevention. Mean left ventricular ejection fraction was 36.2% ± 14.4% in CA with ICD, 41.0% ± 10.6% in CA without ICD, and 33.5% ± 14.4% in non-CA patients. Over 3.5 ± 3.1 years, 6 (26.1%) CA, and 12 (26.1%) non-CA subjects received ICD therapies (P = 0.71). Patients with CA had a significantly higher mortality (43.9% vs. 17.4%, P = 0.002) compared with the non-CA group. Mean time from device implantation to death was 21.8 months in AL and 22.8 months in ATTR patients. There was no significant difference in mortality between CA patients who did and did not receive an ICD (39.0% vs. 46.0%, P = 0.59). Conclusions Despite comparable event rates patients with CA had a significantly higher mortality and ICDs were not associated with longer survival. With the emergence of effective therapy for AL amyloidosis, further study of ICD is needed in this group.

scholarly journals Cardiac Amyloidosis – An Underdiagnosed Cause of Heart Failure with Preserved Ejection Fraction – Updated Diagnosis and Treatment Options

2021 ◽  
Vol 31 (2) ◽  
pp. 283-302
Author(s):  
Roxana Cristina RIMBAS ◽  
Anca BALINISTEANU ◽  
Alexandra Maria CHITROCEANU ◽  
Dragos VINEREANU
Keyword(s):  
Heart Failure ◽  
Ejection Fraction ◽  
Cardiac Amyloidosis ◽  
Treatment Options ◽  
Preserved Ejection Fraction ◽  
Transthyretin Amyloidosis ◽  
Diagnosis And Prognosis ◽  
Step Algorithm ◽  
Immunoglobulin Light Chain Amyloidosis

Cardiac amyloidosis (CA) still represents a frequently missed cause of heart failure with preserved ejection fraction (HFpEF). In the light of many new and effective therapies for immunoglobulin light chain amyloidosis (AL) and for transthyretin amyloidosis (ATTR), screening for amyloidosis as an important and potentially treatable diagnosis under the HFpEF becomes mandatory. A step-by-step algorithm for CA in HF patients was already provided by the guidelines. This review summarizes the role of all imaging modalities and biomarkers in the diagnosis and prognosis of both subtypes, thealgorithm for diagnosis of CA, and new therapeutic options. It is the first Romanian publication which intends to bring altogether the current recommendations in the diagnosis and management of CA.

Keys to early diagnosis of cardiac amyloidosis: red flags from clinical, laboratory and imaging findings

2019 ◽  
Vol 27 (17) ◽  
pp. 1806-1815 ◽  
Author(s):  
Giuseppe Vergaro ◽  
Alberto Aimo ◽  
Andrea Barison ◽  
Dario Genovesi ◽  
Gabriele Buda ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Light Chain ◽  
Cardiac Amyloidosis ◽  
Cardiac Involvement ◽  
Clinical Laboratory ◽  
Early Recognition ◽  
Strong Predictor ◽  
Red Flags ◽  
Immunoglobulin Light Chain ◽  
Transthyretin Amyloidosis

Cardiac involvement in systemic amyloidosis, due either to immunoglobulin light-chain or transthyretin amyloidosis, influences clinical presentation and is a strong predictor of unfavourable outcome. Until recently considered as a rare, incurable disease, cardiac amyloidosis, is still mis/underdiagnosed, although treatments effective in improving patient survival are now available for both subtypes, including chemotherapy regimens for immunoglobulin light-chain amyloidosis and tetramer stabiliser for transthyretin amyloidosis. Achieving a timely diagnosis allows initiating life-saving therapies and requires the early recognition of clinical, laboratory and imaging signs of cardiac involvement, some of them may be apparent well before the disease becomes clinically manifest. Given the systemic nature of amyloidosis, a close interaction among experts in multiple specialties is also required, including cardiologists, nephrologists, haematologists, neurologists, radiologists, nuclear medicine specialists and internists. As an increased awareness about disease presentation is required to ameliorate diagnostic performance, we aim to provide the clinician with a guide to the screening and early diagnosis of cardiac amyloidosis, and to review the clinical, biohumoral and instrumental ‘red flags’ that should raise the suspicion of cardiac amyloidosis.

scholarly journals Cardiac Amyloidosis: Diagnostic Tools for a Challenging Disease

2021 ◽  
Vol 11 (3) ◽  
pp. 111-121
Author(s):  
Marco Giuseppe Migliaccio ◽  
Franco Iodice ◽  
Marco Di Mauro ◽  
Angela Iannuzzi ◽  
Roberta Pacileo ◽  
...  
Keyword(s):  
Amyloid Fibrils ◽  
Cardiac Tissue ◽  
Diastolic Heart Failure ◽  
Target Therapy ◽  
Clinical Signs ◽  
Restrictive Cardiomyopathy ◽  
Diagnostic Tools ◽  
Transthyretin Amyloidosis ◽  
Amyloid Fibril Formation ◽  
Immunoglobulin Light Chain Amyloidosis

Amyloidosis is a group of diseases in which amyloid fibrils build up in tissues, leading to organ dysfunction. Cardiac involvement is observed in immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR) and, when it occurs, the prognosis worsens. Cardiac tissue infiltration can lead to restrictive cardiomyopathy with clinical signs of diastolic heart failure, without reduction of ejection fraction (HFpEF). The aim of multiple and less invasive diagnostic tests is to discern peculiar characteristics and reach the diagnosis without performing an invasive endomyocardial biopsy. These diagnostic tools allow early diagnosis, and they are crucial to best benefit from target therapy. In this review article, we describe the mechanism behind amyloid fibril formation, infiltration of tissues, and consequent clinical signs, focusing on the diagnostic tools and the red flags to obtain a diagnosis.

scholarly journals Current Challenges of Cardiac Amyloidosis Awareness Among Romanian Cardiologists

2021 ◽  
Author(s):  
Robert Adam ◽  
Gabriela Neculae ◽  
Claudiu Stan ◽  
Ruxandra Jurcut
Keyword(s):  
Cardiac Amyloidosis ◽  
Online Survey ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Diagnostic Algorithm ◽  
Restrictive Cardiomyopathy ◽  
Transthyretin Amyloidosis ◽  
Cardiac Symptom ◽  
Important Challenge ◽  
New Treatment

Cardiac amyloidosis (CA) is a restrictive cardiomyopathy characterized by deposition of amyloid in the myocardium and recent studies revealed it is more frequently seen than we thought. Advances have been made over the last years, but a delayed diagnosis is frequently seen. An online survey was conducted among cardiologists from Romania representing the first assessment of the knowledge of CA among them with 195 cardiologists answering the questionnaire. There was a wide variation in their knowledge regarding CA. Our participants had few experience with CA and reported a significant delay between first cardiac symptom and diagnosis. Around one half of them did not seem familiar with the noninvasive diagnostic algorithm and with the wild-type transthyretin amyloidosis (ATTRwt). Even the participants who are aware of this condition and the available treatment options stated this is a rare disease and there is no disease modifying treatment available for ATTRwt. Awareness among cardiologists is the most important challenge in diagnosing CA. Romanian cardiologists are partially aware of this topic, but there are still gaps in their knowledge. Educational programs can improve screening of patients with a high suspicion for this progressive condition whose evolution has been dramatically changed by the new treatment options.

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