AI-based Echocardiography for Detection of Cardiac Amyloidosis

Summary

Cardiac amyloidosis is characterized by deposition of misfolded protein in the myocardium causing mainly heart failure symptoms with preserved left ventricular ejection fraction. There are also specific clinical (bilateral carpal tunnel syndrome, polyneuropathy, skin bruising, ruptured biceps tendon…), biomarkers (disproportionally elevated NT-proBNP to the degree of heart failure, persistent elevated troponin, proteinuria..), electrocardiographic (reduced voltage of QRS, atrial fibrillation..) and echocardiographic features (concentric left ventricular hypertrophy, dilated atria, reduced global longitudinal strain with typical pattern of apical sparing, diastolic dysfunction…). Early diagnosis of the disease is crucial to identify patients that may benefit from appropriate treatment. Suspected cardiac amyloidosis on echocardiography or on cardiac magnetic resonance needs to prompt the request of serum free-light chain quantification and serum and urine immunofixation as well as single photon emission computed tomography (SPECT) using bone radiotracers. Echocardiography is the imaging technique of first choice to evaluate patients with dyspnea complaints and suspected heart failure as well as other pathologies. Echocardiography is a technique of first choice to evaluate patients with cardiovascular risk factors such as arterial hypertension and diabetes and many of those patients may have echocardiographic features that can be observed in early phases of cardiac amyloidosis. Currently, identification of patients with cardiac amyloidosis with available echocardiographic tools remains challenging. However, novel artificial intelligence (AI)-based algorithms applied to echocardiographic images for analysis may help the cardiologists in the identification of early phase of cardiac amyloidosis. Early diagnosis of cardiac amyloidosis is key to implement effective therapies that have demonstrated to improve survival. Several studies have demonstrated the accuracy of AI-based algorithms applied to echocardiography for the diagnosis of cardiac amyloidosis. The hypothesis of the present prospective study is to evaluate the accuracy of the AI-based algorithm to identify patients with echocardiographic findings suggestive of cardiac ATTR amyloidosis using as ground truth the subsequent analysis with imaging techniques that permit its diagnosis such as 99mTc-pyrophosphate (PYP) SPECT and cardiac magnetic resonance as well as hematologic tests. If needed, histological confirmation on cardiac or extracardiac tissue could be performed, as recommended by recent consensus document from the Heart Failure Association of the European Society of Cardiology.

In addition, this study will help to answer the true prevalence of ATTR cardiac amyloidosis among patients referred to transthoracic echocardiography that present red flags for ATTR cardiac amyloidosis. The AI-based algorithm is the software Us2.ai which has been used in other populations for this purpose, as previously published.

Conditions

• Cardiac Amyloidosis
• Heart Failure With Preserved Ejection Fraction (HFPEF)
• Left Ventricular Hypertrophy

Interventions

DIAGNOSTIC_TEST

AI-based echocardiogram

In this prospective study, patients referred to transthoracic echocardiography and in whom the clinician expert in echocardiography or the AI-tool suggest that there are echocardiographic features that suggest ATTR-cardiac amyloidosis will be referred to the clinically indicated pathway (99mTc-pyrophosphate (PYP) SPECT and hematological tests) as follows (Figure 2): Patients in whom the cardiologist expert in echocardiography and the AI-based tool agree on the suspicion of cardiac amyloidosis will be referred to further analysis with 99mTc-pyrophosphate (PYP) SPECT and hematological tests as clinically indicated. Patients in whom the cardiologist expert in echocardiography considers there is suspected cardiac amyloidosis but the AI-based tool disagrees will be referred to the referring physician for further control and eventually analysis with 99mTc-pyrophosphate (PYP) SPECT and hematological tests as clinically indicated. Patients in whom the cardiologist expert in echocardio

Sponsors & Collaborators

• AstraZeneca

  collaborator INDUSTRY

• Germans Trias i Pujol Hospital

  lead OTHER

Principal Investigators

• Victoria Delgado Garcia, MD, PhD · Hospital University Germans Trias i Pujol

Study Design

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Model

SEQUENTIAL

Eligibility

Min Age

18 Years

Max Age

95 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2026-04-30

Primary Completion

2028-04-30

Completion

2028-10-31