The diagnostic challenge

The patient’s symptoms and imaging findings were non-specific and evolved over time. Despite multiple echoes, hospitalisations and follow-up visits, the true diagnosis was not achieved until 2025.

Findings were interpreted through several possible clinical pathways, including aortic stenosis and HOCM, but the underlying cardiac amyloidosis remained elusive for at least 4 years.

Patient snapshot

• 70-year-old Caucasian male
• History of atrial fibrillation, hypertension and hyperlipidemia
• Indication: murmur and shortness of breath
  
  

Clinical journey

Over the course of hospitalizations and procedures, the patient received echocardiograms in 2020, 2021, 2022, 2023, 2024, and 2025. With the implementation of EchoGo® Amyloidosis, the patient’s echo was flagged as “suggestive of cardiac amyloidosis” in 2025, when his LVEF had deteriorated to ~30-35%

The patient then received a diagnostic work-up including PYP and was confirmed to have ATTR-CM.

Retrospective review of his five previous echo studies show that EchoGo® Amyloidosis would have flagged the underlying cardiac amyloidosis beginning with his echo in 2021, earlier in the disease progression when his LVEF was preserved at ~50-55%.

Key clinical pattern

• 4 hospitalisations
• Multiple follow-up visits
• Inconsistent and variable echo measurements
• Worsening symptoms over time
• Diagnosis delayed until 2025

EchoGo® Amyloidosis result

Suggestive of Cardiac Amyloidosis

EchoGo® Amyloidosis identified findings “suggestive of cardiac amyloidosis,” helping surface a disease signal that had remained hidden across years of clinical evaluation.

What EchoGo® Amyloidosis could have changed

Had EchoGo® Amyloidosis been used earlier in the patient’s echo journey, the finding “suggestive of cardiac amyloidosis” could have helped prompt earlier diagnostic review, specialist follow-up, and confirmatory testing.

Instead of multiple years of worsening symptoms and inconclusive evaluations, EchoGo® Amyloidosis could have provided an additional disease-specific signal to support earlier recognition of an often-missed cause of heart failure and mortality.

The diagnostic challenge

Standard assessment left uncertainty. Under the 2016 ASE Guidelines for Diastolic Dysfunction, the result was indeterminate. With the 2025 ASE guideline updates, several measurements remained borderline, meaning variability could place the patient in either grade 1 or grade 2 diastolic dysfunction. Atrial fibrillation and obesity made her echo more challenging to interpret.

Patient snapshot

• 64-year-old African-American female
• History of atrial fibrillation, hypertension and obesity
• Indication: shortness of breath

EchoGo® Heart Failure result

Suggestive of HFpEF

EchoGo® Heart Failure identified findings suggestive of HFpEF, helping move the case from uncertainty to a clearer path for clinical follow-up.

EchoGo® Heart Failure provided the care team information so they could move beyond an indeterminate guideline result and consider targeted follow-up sooner.

Instead of leaving unexplained breathlessness in a diagnostic grey zone, EchoGo provided an additional disease-specific signal to support earlier recognition, clearer clinical decision-making and more timely management.

The diagnostic challenge

Cardiac amyloidosis and HCM can share similar imaging features, including increased wall thickness and overlapping echo phenotypes.

In this case, the patient's presentation was managed as HCM for eight years before advanced testing demonstrated the true underlying disease.

Patient snapshot

• 73-year-old male
• Followed elsewhere for 8 years with presumed HCM
• Self-referred for specialist HCM assessment
• Final diagnosis: hereditary ATTR cardiac amyloidosis

Key findings

• Increased wall thickness
• HCM-like echocardiographic phenotype
• Extensive late gadolinium enhancement on CMR
• Positive PYP scan for transthyretin amyloidosis
• RV biopsy showed no myocyte disarray
• TTR confirmed by mass spectrometry
• Genetic testing confirmed hereditary ATTR amyloidosis (Val124-TTR)

EchoGo Amyloidosis result

Suggestive of Cardiac Amyloidosis

EchoGo Amyloidosis identified findings suggestive of Cardiac Amyloidosis directly from the echocardiogram, despite the patient's longstanding presumed diagnosis of HCM.

What EchoGo Amyloidosis could have changed

Had EchoGo Amyloidosis been used earlier in the patient's clinical journey, the finding suggestive of Cardiac Amyloidosis could have prompted earlier consideration of infiltrative heart disease and additional confirmatory testing.

Rather than remaining on an HCM pathway for years, EchoGo could have provided an additional disease-specific signal supporting earlier recognition of hereditary ATTR cardiac amyloidosis and more timely access to appropriate treatment and family screening.