Advances in the Diagnosis and Management of Transthyretin Amyloid Cardiomyopathy
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(2020) 22:45
Cardio-Oncology (M Fradley, Section Editor)
Advances in the Diagnosis and Management of Transthyretin Amyloid Cardiomyopathy Gabriela Spencer-Bonilla, MD, MSc1,2 Kevin M. Alexander, MD3,4 Ronald M. Witteles, MD2,3,4,* Address 1 Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA 2 Stanford Amyloid Center, Stanford University School of Medicine, 300 Pasteur Drive, Lane #158, Stanford, CA, 94305, USA 3 Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA *,4 Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA Email: [email protected]
* Springer Science+Business Media, LLC, part of Springer Nature 2020
This article is part of the Topical Collection on Cardio-Oncology All authors take responsibility for all aspects of the reliability and freedom from bias of the data presented and their discussed interpretation. Keywords Amyloidosis I Transthyretin I Cardiomyopathy I Neuropathy I Diagnosis I Treatment I Cardiac scintigraphy
Abstract Purpose of review Transthyretin 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 findings Historically, 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. Summary ATTR-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.
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Curr Treat Options Cardio Med
(2020) 22:45
Introduction Transthyretin (TTR) is a 127-amino acid protein synthesized and secreted by the liver. This protein serves primarily as a transporter of thyroxine and retinol binding protein. In transthyretin amyloidosis (ATTR), the native homotetramer form dissociates into unstable TTR monomers, which misfold, aggregate, and ultimately form rigid amyloid fibrils. These fibrils deposit in a variety of tissues and can lead to ATTR cardiomyopathy (ATTR-CM) and ATTR neuropathy. ATTR-CM is associated with a progressive restrictive cardiomyopathy, heart failure, arrhythmias, and sudden death. ATTR-CM can result either from amyloid deposits comprised of wildtype TTR (ATTRwt) or variant TTR (ATTRv) caused by a TTR gene mutation [1–4]. ATTRwt is predominantly a disease of o
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