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HomePartnershipsWorking With The NHS and other Healthcare OrganisationsCollaborative WorkingCollaborative Working Project between the NHS Highland Cardiac Unit, Raigmore Hospital, Inverness and Pfizer LimitedCollaborative Working Project between the NHS Highland Cardiac Unit, Raigmore Hospital, Inverness and Pfizer Limited
Identification of cardiac amyloid (CA) in symptomatic patients with echocardiographic features of Heart Failure with Preserved Ejection Fraction (HFpEF)
Background
Cardiac amyloidosis (CA) is a progressive infiltrative heart muscle disease, caused by the accumulation of insoluble amyloid fibrils in the heart muscle (myocardium). This leads to increased ventricular stiffness, impaired cardiac function, and ultimately advanced heart failure.
 
Without timely diagnosis and access to specialist treatment, prognosis is poor. However, CA remains under-recognised, particularly in patients presenting with features of heart failure with preserved ejection fraction (HFpEF), where symptoms may overlap with more common conditions. 
Project
The primary objective was to identify patients presenting in primary care with breathlessness or suspected heart failure who may have previously undiagnosed cardiac amyloidosis and are not detected through existing clinical pathways. The cases of patients with suspected CA were reviewed by a consultant cardiologist. Further investigations were requested including haematological investigations (serum & urine immunofixation, and serum free light chain quantification) and [99mTc]-3,3-Diphosphono-1,2-Propanodicarboxylic Acid (DPD) bone scintigraphy. Some patients required clinic review.  Eligible patients diagnosed with CA were considered for initiation of approved, licensed therapies. 

The project was delivered over 9 months and followed a structured, multi-step pathway.

Routinely collected clinical datasets, including echocardiography, natriuretic peptide measurements and relevant clinical history, were systematically reviewed and integrated to identify patients with features suggestive of cardiac amyloidosis. 

Predefined clinical and imaging red flags were applied to stratify patients at higher risk. Those meeting criteria underwent research nurse and/or consultant cardiologist review, with further assessment via remote or face-to-face consultation where appropriate. 

Selected patients proceeded to targeted diagnostic evaluation, including DPD scintigraphy and haematological testing to exclude light-chain amyloidosis, with additional imaging or biopsy performed if indicated. Patients diagnosed with CA were referred for assessment to determine suitability for initiation of approved therapies. 
Outcomes
From a large cohort of patients identified through routine clinical datasets, a subset met predefined screening criteria for suspected CA, including a small number of Transthyretin  Amyloid Cardiomyopathy (ATTR-CM) patients with a prior confirmed diagnosis. The screening approach demonstrated high sensitivity in identifying previously known cases. 

Following specialist clinical review, a substantial proportion of patients were not progressed to further investigation, primarily due to advanced comorbidity, frailty, or alternative explanations for their clinical presentation. 

A selected group of patients underwent targeted diagnostic evaluation, leading to the identification of several new cases of ATTR-CM, with AL amyloidosis appropriately excluded. These patients were typically older, predominantly male, and demonstrated clinical and imaging features consistent with advanced HFpEF phenotype. 

A proportion of newly identified patients had commenced disease-modifying therapy or undergone optimisation of heart failure management. Incidental findings unrelated to cardiac amyloidosis were also observed in a small number of cases. 

Benefits

Benefits for Patients, Population & User Groups
  • Improved identification of CA in patients presenting with HFpEF.
  • More timely diagnosis and tailored management. 
  • Access to appropriate, licensed therapies for eligible patients.  
Benefits for the NHS
  • More effective management of patients with HFpEF.
  • Earlier diagnosis of cardiac amyloidosis, enabling timely intervention.
  • Potential reduction in emergency care usage (admissions) through optimised management. 
Benefits for Pfizer
  • Improved understanding of real-world HF referral pathways.
  • Identification of patients eligible for appropriate licensed treatments.
  • Development of a replicable search strategy for broader NHS application, increasing CA diagnostic rates. 
Term of the Collaborative Working Project
Start date: 4th August 2025.
End date: 4th May 2026.
Resource Allocation
NHS Highland contribution:
Diagnostic funding support: £48,660.00
Human resource support: 312 hours (£18,720.00)

Pfizer UK Ltd contribution:
Clinical Nurse Resource funding: £45,000.00
Human resource: 90 hours (£4,050.00)
 

Conclusions 

Systematic interrogation of routinely collected clinical data can effectively identify patients with CA within a HFpEF population. While diagnostic sensitivity was high (89% of known cases identified), many patients were either frail, comorbid, or had died prior to further investigation, highlighting the importance of earlier detection. The project identified seven previously undiagnosed cases of ATTR-CM.  Applying less stringent screening thresholds (e.g. ventricular wall thickness ≥1.2 cm) may identify patients at earlier disease stages.  
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PP-UNP-GBR-14958 / May 2026
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