Yield of Noncardiac Biopsy for the Diagnosis of Transthyretin Cardiac Amyloidosis

Fine, Nowell M.; Arruda‐Olson, Adelaide M.; Dispenzieri, Angela; Zeldenrust, Steven R.; Gertz, Morie A.; Kyle, Robert A.; Swiecicki, Paul; Scott, Christopher G.; Grogan, Martha

doi:10.1016/j.amjcard.2014.02.030

Cited by 114 publications

(97 citation statements)

References 30 publications

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“…In a recent series of 131 patients with CA and a positive endomyocardial biopsy, only 73 % showed amyloid infiltration on non-cardiac tissue sampling [33]. Predictive accuracy of non-cardiac tissue is even worse for ATTR.…”

Section: Histologymentioning

confidence: 91%

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Cardiac amyloidosis: the great pretender

et al. 2015

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Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related and disease-related reasons including: fragmented knowledge among different specialties and subspecialties, shortage of centres and specialists dedicated to disease management, erroneous belief it is an incurable disease, rarity of the condition, intrinsic phenotypic heterogeneity, genotypic heterogeneity in transthyretin-related forms and the necessity of target organ tissue histological diagnosis in the vast majority of cases. Pitfalls, incorrect beliefs and deceits challenge not only the path to the diagnosis of CA but also the precise identification of aetiological subtype. The awareness of this condition is the most important prerequisite for the management of the risk of underdiagnoses and misdiagnosis. Almost all clinical, imaging and laboratory tests can be misinterpreted, but fortunately each of these diagnostic steps can also offer diagnostic "red flags" (i.e. highly suggestive findings that can foster the correct diagnostic suspicion and facilitate early, timely diagnosis). This is especially important because outcomes in CA are largely driven by the severity of cardiac dysfunction and emerging therapies are aimed at preventing further amyloid deposition.

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Section: Histologymentioning

confidence: 91%

“…Predictive accuracy of non-cardiac tissue is even worse for ATTR. In particular, periumbelical fat biopsy, when considered alone, is a source of misdiagnosis, especially in patients with wild-type ATTR where sensitivity is rarely higher than 50 % [2,33].…”

Section: Histologymentioning

confidence: 97%

Cardiac amyloidosis: the great pretender

et al. 2015

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“…Fine et al published the largest study in ATTR and fat pad aspiration to date (including 286 subjects) comparing the yield of cardiac and non-cardiac biopsies in patients with ATTRwt and ATTRmt. 69 The yield for ATTRmt in abdominal fat pad aspiration (67% of 141 specimens) far exceeded that for ATTRwt (14% of 84 specimens), but only 18 patients (11% of those with genotype data) had the Val122Ile mutation. Fat pad aspiration was less sensitive than endomyocardial biopsy (100% of 42 ATTRmt and 89 ATTRwt specimens).…”

Section: Establishing the Diagnosismentioning

confidence: 92%

Transthyretin Cardiac Amyloidosis in Black Americans

Shah

Mankad

Castaño

et al. 2016

Circ: Heart Failure

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Transthyretin (TTR) related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive, hypertrophic heart disease and often goes undiagnosed. In the United States, the hereditary form disproportionately afflicts Black Americans, who when compared to Caucasians with wild type TTR amyloidosis, a phenotypically similar condition, present with more advanced disease despite having a non-invasive method for early identification (genetic testing). While reasons for this are unclear, this begs to consider the inadequate access to care, societal factors or a biological basis. In an effort to improve awareness and explore unique characteristics, we review the pathophysiology, epidemiology and therapeutic strategies for TTR amyloidosis, and highlight diagnostic pitfalls and clinical pearls for identifying patients with amyloid heart disease.

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“…In a series of 131 patients with ATTR-CA and a positive endomyocardial biopsy (EMB), fat aspiration was positive in 67% of ATTRm and only 14% of ATTRwt CA. 91 . Thus, while a fat pad biopsy is a preferred initial site, a negative result is insufficient to exclude the diagnosis and an endomyocardial biopsy should be performed.…”

Section: Diagnosing Cardiac Amyloidosismentioning

confidence: 99%

Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis

et al. 2017

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Advances in cardiac imaging have resulted in greater recognition of cardiac amyloidosis (CA) in everyday clinical practice, but the diagnosis continues to be made in patients with late stage disease, suggesting that more needs to be done to improve awareness of its clinical manifestations and the potential of therapeutic intervention to improve prognosis. Light chain CA (AL-CA) in particular, if recognized early and treated with targeted plasma cell therapy, can be managed very effectively. For patients with transthyretin amyloidosis, there are numerous therapies that are currently in late phase clinical trials. In this review we address common questions encountered in clinical practice regarding etiology, clinical presentation, diagnosis and management of cardiac amyloidosis, focusing on recent important developments in cardiac imaging and biochemical diagnosis. The aim is to show how a systematic approach to the evaluation of suspected CA can impact the prognosis of patients in the modern era.

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Yield of Noncardiac Biopsy for the Diagnosis of Transthyretin Cardiac Amyloidosis

Cited by 114 publications

References 30 publications

Cardiac amyloidosis: the great pretender

Cardiac amyloidosis: the great pretender

Transthyretin Cardiac Amyloidosis in Black Americans

Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis

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