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Cited by 351Amyloidosis: Diagnosis, Treatment, OutcomesCardiac tumors and thrombiHeart Failure Treatment and Management

Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice

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Witteles, Ronald M., Bokhari, Sabahat, Damy, Thibaud, Elliott, Perry M., Falk, Rodney H., Fine, Nowell M., Gospodinova, Mariana, Obici, Laura +2 more·2019·JACC: Heart Failure
DOI 10.1016/j.jchf.2019.04.010
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Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a life-threatening, progressive, infiltrative disease caused by the deposition of transthyretin amyloid fibrils in the heart, and can often be overlooked as a common cause of heart failure. Delayed diagnosis due to lack of disease awareness and misdiagnosis results in a poorer prognosis. Early accurate diagnosis is therefore key to improving patient outcomes, particularly in the context of both the recent approval of tafamidis in some countries (including the United States) for the treatment of ATTR-CM, and of other promising therapies under development. With the availability of scintigraphy as an inexpensive, noninvasive diagnostic tool, the rationale to screen for ATTR-CM in high-risk populations of patients is increasingly warranted. Here the authors propose a framework of clinical scenarios in which screening for ATTR-CM is recommended, as well as diagnostic "red flags" that can assist in its diagnosis among the wider population of patients with heart failure.

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  • Cardiac amyloidosis is now recognized as an underdiagnosed and clinically important cause of heart failure with preserved ejection fraction, and substantial diagnostic delay remains common.

    “Cardiac amyloidosis, once considered rare, is now recognized as an underdiagnosed and clinically important cause of heart failure with preserved ejection fraction, and substantial diagnostic delay remains common.2,6”

    From AI-ECG for Echocardiography Triage in Structural Heart Disease: Evidence, Implementation, and Future Directions (2026) · cites this paper as [6]

    The Epidemiology of ATTRwt section says transthyretin amyloid cardiomyopathy (ATTR-CM) is overlooked and occurs at relatively high rates among people diagnosed with heart failure with preserved ejection fraction. The Delay to Diagnosis and Misdiagnosis section says its diagnosis is often delayed. These passages support the claim for ATTR-CM, but do not establish the same pattern for cardiac amyloidosis as a whole, which also includes other types. Page numbers were not provided in our copy. (LLM, conf=0.84)

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Cites

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    “Given that between approximately 2% to 8% of the general population older than 65 years of age exhibit findings compatible with monoclonal gammopathy of undetermined significance (45), this is not a rare scenario in the evaluation of a patient with suspected ATTRwt amyloidosis.”
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Authors
Witteles, R. M., Bokhari, S., Damy, T., Elliott, P. M., Falk, R. H., Fine, N. M., Gospodinova, M., Obici, L., Rapezzi, C., & Garcia-Pavia, P.
Affiliations
  • Stanford Medicine (US)
  • NewYork–Presbyterian Hospital (US)
  • Centre Hospitalier Universitaire Henri-Mondor (FR)
  • Brigham and Women's Hospital (US)
  • University of Calgary (CA)
  • Ministry of Interior (BG)
  • Policlinico San Matteo Fondazione (IT)
  • University of Bologna (IT)
ORCID
Venue
JACC: Heart Failure
Publisher
Elsevier BV
Published
2019-08
Volume
7
Issue
8
Pages
709-716
ISSN
2213-1779 (ISSN-L)
DOI
10.1016/j.jchf.2019.04.010
OpenAlex
W2960721446
Cited by
351
References
1
Citations by year
2026: 24 · 2025: 47 · 2024: 63 · 2023: 51 · 2022: 64 · 2021: 60 · 2020: 35 · 2019: 6
FWCI
3.64
Type
journal article
Language
en
Open access
Licence
Locations
  • JACC Heart Failure (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Deposito Digital UFV (Francisco de Vitoria University) (submittedVersion, cc-by-nc-nd)
  • Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion, cc-by-nc-nd)
  • INFM-OAR (INFN Catania) (submittedVersion, cc-by)
Funders
Pfizer
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Amyloidosis: Diagnosis, Treatment, Outcomes
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac tumors and thrombi
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Heart Failure Treatment and Management
Keywords
transthyretin amyloid cardiomyopathy, heart failure, early diagnosis, tafamidis, vulnerable populations, misdiagnosis
MeSH terms
Age Factors, Benzoxazoles, Diagnostic Errors, Heart Failure, Humans, Cardiomyopathies, Stroke Volume, Amyloid Neuropathies, Familial, Early Diagnosis, Delayed Diagnosis, Early Medical Intervention

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