Future Directions in Cardiac Amyloidosis

Just a few years ago, cardiac amyloidosis (CA) was rarely diagnosed. With poor treatment options and delayed and infrequent diagnoses, most patients who were eventually recognized to have CA were referred for hospice care. Now, the availability of sponsored genetic testing, increased use of nuclear...

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Main Author: Barry Trachtenberg
Format: Article
Language:English
Published: Houston Methodist DeBakey Heart & Vascular Center 2022-03-01
Series:Methodist DeBakey Cardiovascular Journal
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Online Access:https://account.journal.houstonmethodist.org/index.php/up-j-mdbcj/article/view/1071
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author Barry Trachtenberg
author_facet Barry Trachtenberg
author_sort Barry Trachtenberg
collection DOAJ
description Just a few years ago, cardiac amyloidosis (CA) was rarely diagnosed. With poor treatment options and delayed and infrequent diagnoses, most patients who were eventually recognized to have CA were referred for hospice care. Now, the availability of sponsored genetic testing, increased use of nuclear scintigraphy, and widespread recognition have contributed to an increasing number of patients being diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM). Concomitantly, with the increased recognition of concurrent conditions (eg, carpal tunnel syndrome, lumbar stenosis, and low-flow, low-gradient aortic stenosis), specialists such as orthopedic surgeons and structural cardiologists are increasingly involved in diagnosing ATTR-CM. Although the majority of patients are still being diagnosed either too late or having their diagnosis missed altogether, we have entered an exciting new era in the treatment of cardiac amyloidosis with improved diagnostic tools, disease recognition, and different therapeutic options for both ATTR and light-chain amyloidosis (AL). As a result, survival is improving, and we are no longer faced with a dualistic choice between hospice or organ transplant. The future goal is to develop anti-fibril therapies that will be safe and effective at removing deposited amyloid fibrils and restoring organs to their pre-amyloid state. For the millions of carriers of variant ATTR, enhanced testing followed by genetic editing may allow a cure even before patients develop clinical signs of the disease.
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spelling doaj-art-9afc89041e4e49adbb4b0b72dc69c8692025-08-20T02:22:17ZengHouston Methodist DeBakey Heart & Vascular CenterMethodist DeBakey Cardiovascular Journal1947-61082022-03-01182737710.14797/mdcvj.1071737Future Directions in Cardiac AmyloidosisBarry Trachtenberg0https://orcid.org/0000-0003-1700-9565Houston Methodist Heart & Vascular Center, JC Walter Houston Methodist Transplant Center, Houston Methodist Hospital, Houston, TexasJust a few years ago, cardiac amyloidosis (CA) was rarely diagnosed. With poor treatment options and delayed and infrequent diagnoses, most patients who were eventually recognized to have CA were referred for hospice care. Now, the availability of sponsored genetic testing, increased use of nuclear scintigraphy, and widespread recognition have contributed to an increasing number of patients being diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM). Concomitantly, with the increased recognition of concurrent conditions (eg, carpal tunnel syndrome, lumbar stenosis, and low-flow, low-gradient aortic stenosis), specialists such as orthopedic surgeons and structural cardiologists are increasingly involved in diagnosing ATTR-CM. Although the majority of patients are still being diagnosed either too late or having their diagnosis missed altogether, we have entered an exciting new era in the treatment of cardiac amyloidosis with improved diagnostic tools, disease recognition, and different therapeutic options for both ATTR and light-chain amyloidosis (AL). As a result, survival is improving, and we are no longer faced with a dualistic choice between hospice or organ transplant. The future goal is to develop anti-fibril therapies that will be safe and effective at removing deposited amyloid fibrils and restoring organs to their pre-amyloid state. For the millions of carriers of variant ATTR, enhanced testing followed by genetic editing may allow a cure even before patients develop clinical signs of the disease.https://account.journal.houstonmethodist.org/index.php/up-j-mdbcj/article/view/1071cardiac amyloidosistransthyretin cardiomyopathylight-chain amyloidosisantifibril therapy
spellingShingle Barry Trachtenberg
Future Directions in Cardiac Amyloidosis
Methodist DeBakey Cardiovascular Journal
cardiac amyloidosis
transthyretin cardiomyopathy
light-chain amyloidosis
antifibril therapy
title Future Directions in Cardiac Amyloidosis
title_full Future Directions in Cardiac Amyloidosis
title_fullStr Future Directions in Cardiac Amyloidosis
title_full_unstemmed Future Directions in Cardiac Amyloidosis
title_short Future Directions in Cardiac Amyloidosis
title_sort future directions in cardiac amyloidosis
topic cardiac amyloidosis
transthyretin cardiomyopathy
light-chain amyloidosis
antifibril therapy
url https://account.journal.houstonmethodist.org/index.php/up-j-mdbcj/article/view/1071
work_keys_str_mv AT barrytrachtenberg futuredirectionsincardiacamyloidosis