A review of recent advances in the diagnosis of cardiac amyloidosis, treatment of its cardiac complications, and disease-modifying therapies

Raval, Maharshi; Siddiq, Sajid; Sharma, Kamal; Sanghvi, Labdhi; Jain, Akhil; Patel, Sagar; Trivedi, Jaahnavee; Chandani, Kanishka Uttam; Patel, Dinesh G.; Desai, Rupak

doi:10.12688/f1000research.130285.1

Cited by 7 publications

(3 citation statements)

References 55 publications

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“…Since AL and ATTR are responsible for 95% of CA cases, the diagnostic work-up focuses on differentiating between these subtypes of CA. All patients with suspected CA should undergo assessment for the presence of monoclonal protein in serum and urine, by serum protein electrophoresis with immunofixation (SPIE), urine protein electrophoresis with immunofixation (UPIE) and serum kappa/lambda free light chains ratio [ 13 , 23 , 24 ]. Serum kappa/lambda light chains ratio is considered normal between 0.26–1.65, by Freelite assay, and 0.53–1.51 by N latex assay.…”

Section: Diagnostic Algorithmmentioning

confidence: 99%

Invasive and Non-Invasive Diagnostic Pathways in the Diagnosis of Cardiac Amyloidosis

Briasoulis

Bampatsias

Papamichail

et al. 2023

JCDD

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The appropriate diagnosis and subtyping of cardiac amyloidosis (CA) is frequently missed or delayed due to its vague presentation, clinical overlapping, and diagnostic pitfalls. Recent developments in both invasive and non-invasive diagnostic techniques have significantly changed the diagnostic approach of CA. With the present review, we aim to summarize the current diagnostic approach of CA and to underline the indications of tissue biopsy, either surrogate site or myocardial. The most important factor for timely diagnosis is increased clinical suspicion, especially in certain clinical scenarios. Appropriate imaging with echocardiography or cardiac magnetic resonance (CMR) can provide significant evidence for the diagnosis of CA. Importantly, all patients should undergo monoclonal proteins assessment, with these results significantly determining the steps to follow. A negative monoclonal protein assessment will lead to a non-invasive algorithm which, in combination with positive cardiac scintigraphy, can establish the diagnosis of ATTR-CA. The latter is the only clinical scenario in which the diagnosis can be established without the need of biopsy. However, if the imaging results are negative but the clinical suspicion remains high, a myocardial biopsy should be performed. In the case of the presence of monoclonal protein, an invasive algorithm follows, first by surrogate site sampling and then by myocardial biopsy if the results are inconclusive or prompt diagnosis is needed. The role of endomyocardial biopsy, even though limited by current advances in other techniques, is highly valuable in selected patients and is the only method to reliably establish a diagnosis in challenging cases.

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Section: Diagnostic Algorithmmentioning

confidence: 99%

Invasive and Non-Invasive Diagnostic Pathways in the Diagnosis of Cardiac Amyloidosis

Briasoulis

Bampatsias

Papamichail

et al. 2023

JCDD

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“…Recent studies have implied that the prevalence of ATTR cardiac amyloidosis might not reflect the actual number in the population, as it is often underdiagnosed. 1,3,5,6 ATTR is further classified into two major phenotypes: ATTRv, which is characterized by inherent mutation of the transthyretin gene, and ATTRwt, which is mainly associated with age-related alterations. 3,5,7 ATTRv is highly prevalent among the black male population, while most subtypes of amyloidosis affect both sexes equally.…”

Section: Introductionmentioning

confidence: 99%

Impact of amyloidosis on the outcomes of patients with coronary artery disease: A nationwide analysis

Prakash Babu,

Layadi,

Singh

et al. 2024

F1000Res

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Background: Amyloidosis is a disease of increasing interest, primarily due to its high prevalence and advances in diagnostic and therapeutic options. It is known to be coexistent with a significant number of aortic stenosis patients (AS). Various studies have been done to evaluate its role in the clinical outcomes of AS. However, there is a lack of similar data on coronary artery disease (CAD) patients. Methods: We conducted a cross-sectional cohort study using the nationwide inpatient sample (NIS) 2018–19. We included 305,675 adult inpatients with CAD and further divided by the presence of a co-diagnosis of amyloidosis. A logistic regression model was used to evaluate the odds ratio (OR) of the association between in-hospital mortality in CAD inpatients with and without amyloidosis and other comorbidities. Results: The prevalence of amyloidosis in the total inpatient population with CAD was 7.3%, with the majority of the patients being in the older age group (mean age: 66.88 years), males (64.2%), and white (70.9%). Interestingly, the amyloidosis cohort had a higher prevalence of hypertension (89.3% vs. 85.1%). CAD inpatients with amyloidosis were noted to have higher in-hospital mortality (1.6% vs. 0.9%) with an OR of 1.87 (95% CI 1.66–2.11, p <0.001). These patients also had a higher length of stay (6.66 days vs. 4.68 days), total charges ($156,149.76 vs. $119,442.71), and major loss of function (56.5% vs. 30.5%). Amongst patients with CAD and amyloidosis, household income below the 50th percentile was a risk factor for in-hospital mortality (OR 1.5, 95% CI 1.39–1.63, p <0.001). Conclusions: Results from our study show that CAD inpatients who have comorbid amyloidosis have worse outcomes compared to those who do not. Further studies are needed to determine the etiology behind these outcomes and thus guide the management of stable CAD in amyloidosis patients.

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“…Protein misfolding and aggregation occur due to factors such as abnormal proteolysis, point mutations, and posttranslational modifications like phosphorylation, oxidation, and glycation. 3,4 Research conducted in Germany examined trends in hospitalizations for heart failure and found that improved outcomes were partially attributed to the utilization of percutaneous coronary interventions. 5 Another investigation focused on patients diagnosed with cardiac amyloidosis and revealed that individuals with ST-elevation myocardial infarction and cardiac amyloidosis had higher rates of signs and symptoms, including ventricular tachycardia/ventricular fibrillation, cardiogenic shock, acute kidney injury requiring dialysis, and admissions to the intensive care unit, compared to those without ST-elevation myocardial infarction.…”

Section: Introductionmentioning

confidence: 99%

Impact of amyloidosis on the outcomes of percutaneous coronary intervention recipients: a nationwide analysis

Singh,

Pethani,

Alencar

et al. 2023

F1000Res

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Background: Interest in amyloidosis is increasing, primarily due to its high prevalence and recent advances in diagnostic and treatment modalities. The role of amyloidosis in aortic stenosis is established, and in coronary artery disease (CAD) outcomes are being reported. We aim to study the impact of amyloidosis on the outcomes of inpatient percutaneous coronary intervention (PCI) recipients. Methods: We conducted a cross-sectional cohort study using the nationwide inpatient sample (NIS) 2018-19. We included 457,730 adult inpatients with CAD managed with PCI and further divided by the presence of a co-diagnosis of amyloidosis. A logistic regression model was used to evaluate the odds ratio (OR) of the association between amyloidosis and various outcomes in PCI recipients. Results: Out of the total of 457,730 patients included, 30,905 (6.75%) had amyloidosis. Mean age (66.3 vs. 65.9), female sex (35.6% vs. 32.1%), and African American race (11.6% vs. 9.4%) were higher in the amyloidosis cohort (all P<0.001). The amyloidosis cohort also had a higher incidence of acute kidney injury (AKI) (29.9% vs. 15.5%), complications of surgical care (1.7% vs. 0.7%), complications of cardiovascular implant (9.5% vs. 8.5%), major loss of function (54.7% vs. 27.8%), length of stay (LOS) in days (6.3 vs. 3.8), total charges in $ (166,001 vs. 121,718), and in-hospital mortality (4.7% vs. 2.6%) compared to non-amyloidosis cohort (all P<0.001). Amyloidosis was associated with higher odds of in-hospital mortality (OR 1.3, 95CI 1.23-1.39, p<0.001), AKI (OR 1.89, 95CI 1.83-1.94, p<0.001), and complications of surgical care (OR 2.05, 95CI 1.87-2.26, p<0.001) but not with complications of cardiovascular implant (OR 1.01, 95CI 0.97-1.05, p=0.703). Conclusions: Amyloidosis is associated with worse outcomes in inpatient recipients of PCI. Further studies are needed to assess the implications, safety, and outcomes of elective PCI in patients with amyloidosis.

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A review of recent advances in the diagnosis of cardiac amyloidosis, treatment of its cardiac complications, and disease-modifying therapies

Cited by 7 publications

References 55 publications

Invasive and Non-Invasive Diagnostic Pathways in the Diagnosis of Cardiac Amyloidosis

Invasive and Non-Invasive Diagnostic Pathways in the Diagnosis of Cardiac Amyloidosis

Impact of amyloidosis on the outcomes of patients with coronary artery disease: A nationwide analysis

Impact of amyloidosis on the outcomes of percutaneous coronary intervention recipients: a nationwide analysis

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