Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable.

Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable. Annu Rev Med. 2020 Jan 27;71:203-219 Authors: Rubin J, Maurer MS Abstract Cardiac amyloidosis (CA) is an infiltrative and restrictive cardiomyopathy that leads to heart failure, reduced quality of life, and death. The disease has two main subtypes, transthyretin cardiac amyloidosis (ATTR-CA) and immunoglobulin light chain cardiac amyloidosis (AL-CA), characterized by the nature of the infiltrating protein. ATTR-CA is further subdivided into wild-type (ATTRwt-CA) and variant (ATTRv-CA) based on the presence or absence of a mutation in the transthyretin gene. CA is significantly underdiagnosed and increasingly recognized as a cause of heart failure with preserved ejection fraction. Advances in diagnosis that employ nuclear scintigraphy to diagnose ATTR-CA without a biopsy and the emergence of effective treatments, including transthyretin stabilizers and silencers, have changed the landscape of this field and render early and accurate diagnosis critical. This review summarizes the epidemiology, pathophysiology, diagnosis, prognosis, and management of CA with an emphasis on the significance of recent developments and suggested future directions. PMID: 31986086 [PubMed - in process]
Source: Annual Review of Medicine - Category: General Medicine Authors: Tags: Annu Rev Med Source Type: research

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Amyloid transthyretin (ATTR) cardiac amyloidosis (CA) is an increasingly recognized cause of restrictive cardiomyopathy and associated heart failure with preserved ejection fraction (HFpEF). Despite improved diagnostic techniques to identify this condition, many patients experience delayed diagnosis. Interpretation of routine cardiac biomarkers (i.e. troponins and brain natriuretic peptide (BNP)) and echocardiography in ATTR-CA is limited, particularly in relation to pyrophosphate (PYP) scintigraphy.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (64) Source Type: research
We describe a rare case of concomitant moderately severe tricuspid and mitral valve stenosis because of ongoing amyloid deposition in a patient with progressive multiple myeloma and fat pad biopsy ‐proven light chain amyloidosis. Worsening infiltrative cardiomyopathy and valvulopathy despite evidence‐based chemotherapy and heart failure pharmacotherapy led to end‐stage disease and death. Valvular involvement in cardiac amyloidosis requires early recognition of the underlying disease con dition to guide directed medical therapy and prevent its progression. In this instance, valvuloplasty or valve replacement is not a viable option.
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research
Cardiac Amyloidosis (CAm) is an infiltrative disease caused by abnormal extracellular protein deposits in the myocardium, leading to restrictive cardiomyopathy. The cardinal clinical manifestation is congestion resulting in symptomatic heart failure (HF). Relief of congestion is achieved with high dose loop diuretics and regularly requires hospitalization for intravenous (IV) diuresis. Additionally, CAm is a challenge to manage given sensitivity to preload and afterload, low systemic blood pressures, and inefficacy of advanced therapies typically used in HF.
Source: Heart and Lung - Category: Intensive Care Authors: Source Type: research
Publication date: Available online 17 December 2019Source: Canadian Journal of CardiologyAuthor(s): Bennett Di Giovanni, Dakota Gustafson, Mitchell B. Adamson, Diego H. DelgadoAbstractAmyloidosis is a term used to describe a group of rare, heterogenous diseases which ultimately result in the deposition and accumulation of misfolded proteins. These misfolded proteins, known as amyloid, are associated with a variety of precursor proteins which have amyloidogenic potential. Ultimately, the specific type of amyloidosis is dependent on multiple factors including genetic variability of precursor proteins and the tissue/organ in ...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
This article will review ATTR cardiac amyloidosis to provide physicians with the tools they need to establish a definitive diagnosis when there is a clinical suspicion of amyloidosis and provide the most appropriate care. Expert commentary: Increased awareness and improved diagnostic techniques will lead to earlier diagnosis and a greater understanding of the clinical presentation. The anticipated increases in the prevalence of this disease due to increased clinical awareness will require, and in-part, facilitate the development of new therapies to manage this patient population. PMID: 31478389 [PubMed - as supplied by publisher]
Source: Expert Review of Cardiovascular Therapy - Category: Cardiology Tags: Expert Rev Cardiovasc Ther Source Type: research
Rationale: Cardiac amyloidosis, considered for the last years to be a rare disease, is one of the determinants of HFpEF. The non-specific clinical presentation and the difficulties related to endomyocardial biopsy have made cardiac amyloidosis an underdiagnosed clinical entity. Improvement of non-invasive diagnostic techniques and the development of new therapies increased clinical awareness for this form of restrictive cardiomyopathy. We here summarize echocardiography and 99mTc-HDP scintigraphy findings in 6 cases of cardiac amyloidosis and review the literature data of this progressive and fatal cardiomyopathy. Patie...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Abstract Amyloidosis is a collection of systemic diseases characterised by misfolding of previously soluble precursor proteins that become infiltrative depositions, thereby disrupting normal organ structure and function. In the heart, accumulating amyloid fibrils lead to progressive ventricular wall thickening and stiffness, resulting in diastolic dysfunction gradually progressing to a restrictive cardiomyopathy. The main types of cardiac amyloidosis are amyloid light chain (AL) amyloidosis caused by an underlying plasma cell dyscrasia, amyloid transthyretin (TTR) amyloidosis of wild-type (normal) TTR at...
Source: Netherlands Heart Journal - Category: Cardiology Authors: Tags: Neth Heart J Source Type: research
Constrictive Pericarditis (CP) is a curable and reversible form of severe diastolic heart failure. We aimed to investigate the diagnostic accuracy of published echocardiographic Mayo Clinic Criteria in differentiating in 107 patients with surgically proven CP from 30 patients with Restrictive Cardiomyopathy (RCM) due to cardiac Amyloidosis. Five principal echocardiographic and Doppler variables were re-measured on preoperative transthoracic echocardiogram namely: 1) respiration-related ventricular septal shift; 2) respiratory variation in mitral inflow E pulsed Doppler velocity 3) tissue Doppler medial mitral annular e &rs...
Source: The American Journal of Cardiology - Category: Cardiology Authors: Source Type: research
Conclusions: 11C-PIB PET/MR may be valuable in the noninvasive diagnosis of CA. Further study with a larger cohort of patients would be needed to confirm it.
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Cardiovascular YIA Symposium Source Type: research
We report a case of a 50-year-old man who was admitted with evolution of progressive dyspnea. Two months before the present admission, the patient was diagnosed with bacterial pneumonia complicated by bilateral parapneumonic effusion that required drainage. Diagnosis: Electrocardiography demonstrated poor R-wave progression in leads V1-V3 with right axis deviation and low voltage criteria. Echocardiography revealed diffuse left ventricular hypertrophy with normal ventricular cavity size, severe diastolic dysfunction, and sparkling and granular texture of the ventricle wall. Serum free light-chain analysis showed an alte...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
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