Advances in the Diagnosis and Management of Transthyretin Amyloid Cardiomyopathy

AbstractPurpose of reviewTransthyretin amyloid cardiomyopathy (ATTR-CM) is a disease with high morbidity and mortality. This disease is significantly underdiagnosed and is more common than previously appreciated, particularly among older adults and people of African descent. This review discusses recent advances in the diagnosis and treatment for ATTR-CM.Recent findingsHistorically, ATTR-CM was diagnosed via endomyocardial biopsy, a resource-intensive and invasive approach. However, in most cases, ATTR-CM can now be diagnosed non-invasively using bone tracer cardiac scintigraphy, which may facilitate earlier diagnosis. In recent clinical trials, a transthyretin stabilizer (tafamidis) and transthyretin gene silencers (patisiran and inotersen) have emerged as effective ATTR  amyloidosis therapies and have been approved for use in the USA and many other countries.SummaryATTR-CM is now recognized as an important cause of heart failure. Approaches to the diagnosis and treatment of ATTR-CM are rapidly evolving. Now, more than ever, there are opportunities to improve clinical care of patients with this challenging disease.
Source: Current Treatment Options in Cardiovascular Medicine - Category: Cardiology Source Type: research

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We present not ‐yet‐seen multimodal images of a 55‐year‐old female patient with isolated atrial amyloidosis (IAA) who clinically suffered from multiple atrial arrhythmias and heart failure symptoms with preserved left ventricular ejection fraction. We aim to show structural and functional abnormalities det ected by electrophysiological voltage mapping, cardiac magnetic resonance imaging (MRI) [cMRI; atrial strain measurements, late gadolinium enhancement (LGE) visualization], and99mTc ‐DPD scintigraphy. Bipolar voltage mapping performed during two electrophysiological procedures showed diffuse left atrial low‐v...
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research
Heart failure due to cardiomyopathy is a frequent manifestation of hereditary transthyretin amyloidosis (hATTR), a progressive, multisystem, and fatal disease that results from the deposition of misfolded transthyretin (TTR) protein in major organs and systems. Other common symptoms are due to polyneuropathy and carpal tunnel syndrome. The hATTR Compass Program offers confidential genetic testing to patients in the United States, Canada, and Puerto Rico suspected of having hATTR with polyneuropathy or with a family history of hATTR.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 237 Source Type: research
Transthyretin amyloidosis (ATTR) is a progressive, fatal disease caused by the formation of amyloid fibrils that misfold and accumulate in various tissue in the body, including the heart, leading to a form of heart failure called transthyretin amyloidosis cardiomyopathy (ATTR-CM). ATTR-CM consists of two subgroups: a wild-type (ATTR-wt) or an inherited mutant autosomal dominant gene (hATTR). ATTR-wt and hATTR have an estimated median survival 3.6 years and 2.5 years after diagnosis, respectively.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 145 Source Type: research
Restrictive cardiomyopathy in cardiac amyloidosis (CA) mainly occurs due to light chain (AL) or transthyretin (ATTR) protein deposition in the myocardium. Recurrent congestion related to HF can be challenging to manage in CA, often requiring high dose diuretics and frequent hospitalizations. Though therapies are available for CA that may prolong survival, these do not reverse the cardiomyopathy that may be present at time of diagnosis. Innovative outpatient strategies are needed to effectively manage HF in patients with CA.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 143 Source Type: research
AbstractAimsAmyloid cardiomyopathy is an underappreciated cause of morbidity and mortality. Recent evidence suggests that ATTR wild ‐type cardiomyopathy (ATTRwt‐CM) is probably much more common than widely appreciated. So far, no data are available on comparison of mortality from ATTRwt‐CM and other heart failure aetiologies.Methods and resultsThis was a retrospective, observational, cohort study of 2251 patients and their data collected prospectively from May 2000 to June 2018. Long ‐term mortality was the main outcome measure. Underlying cardiomyopathies were classified as amyloid CM (6.1%) [ATTRwt 3.0%; light‐...
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Original Research Article Source Type: research
Amyloidosis cardiomyopathy is a systemic disease with high risk of disability and death. Patient-reported outcomes (PROs) are validated tools that measure health-related quality of life (HRQoL) and provide prognostic information in patients with heart failure. However, data on HRQoL profile and prognostic value of PROs in patients with cardiac amyloidosis are limited.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 330 Source Type: research
We describe a case of a 59 year-old female who presented to the hospital with dyspnea on exertion, orthopnea, pedal edema, and weight gain. She had a one year history of heart failure with preserved ejection fraction, treated with metoprolol, bumetanide, and metolazone, and three month history of AL amyloidosis, treated with Bortezomib and Dexamethasone.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 314 Source Type: research
AbstractATTR amyloidosis is caused by systemic deposition of transthyretin (TTR) and comprises ATTRwt (wt for wild-type) amyloidosis, ATTRv (v for variant) amyloidosis, and acquired ATTR amyloidosis after domino liver transplantation. ATTRwt amyloidosis has classically been regarded as cardiomyopathy found in the elderly, whereas carpal tunnel syndrome has also become a major initial manifestation. The phenotypes of ATTRv amyloidosis are diverse and include neuropathy, cardiomyopathy, and oculoleptomeningeal involvement as the predominant features, depending on the mutation and age of onset. In addition to variant TTR, the...
Source: Neurology and Therapy - Category: Neurology Source Type: research
AbstractCardioPulmonary Exercise Test (CPET) is the gold standard to evaluate functional capacity in patients at high risk of heart failure (HF). Few studies with a limited number of subjects and conflicting results, analyzed the role of CPET in patients with systemic amyloidosis. Aims of our study were the assessment of the response to exercise in patients with Transthyretin amyloid (ATTR) cardiomyopathy (CA), and the correlation of clinical, biohumoral and echocardiographic parameters with CPET parameters, such as VO2 peak and VE/VCO2 slope. From February 2018 to March 2019, 72 cardiac ATTR patients were prospectively en...
Source: Internal and Emergency Medicine - Category: Emergency Medicine Source Type: research
Tei index – Myocardial performance index Tei index – myocardial performance index (MPI) is the ratio of the time spent in isovolumetric activity divided by the time spent in ventricular ejection [1]. In other words, it is the sum of isovolumic contraction and relaxation times divided by the ejection time [2]. MPI = (ICT + IRT) / ET ICT: isovolumic contraction time; IRT: isovolumic relaxation time; ET: ejection time Myocardial performance index has an inverse relation with global ventricular function in that increasing values indicate worsening global ventricular function. There is good correlation between Doppl...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: Echocardiography Source Type: blogs
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