Header

Skip to main content

Slider

Accelerating the Diagnosis of Cardiac Amyloidosis with AI

What is Cardiac Amyloidosis?

According to the University of Chicago, “Cardiac amyloidosis is a heart condition in which abnormal proteins build up in the heart muscle, making it stiff and impairing its ability to pump blood. Multiple life-prolonging drug treatments for this condition have recently become available, but without early diagnosis, physicians miss out on opportunities to extend patients’ survival and quality of life.”

“Unfortunately, cardiac amyloidosis can be challenging to diagnose, because it’s often difficult to distinguish from other heart issues without a burdensome amount of testing,” explained co-lead author Jeremy Slivnick, MD, a cardiologist at the University of Chicago Medicine.

The Promise of AI

AI is improving cardiac amyloidosis diagnosis by using algorithms to analyze medical imaging and data, which can lead to earlier and more accurate detection than traditional methods. These tools can automatically analyze echocardiograms, electrocardiograms (ECGs), and scintigraphy scans to identify the disease, which is crucial for timely treatment because new therapies are most effective in the early stages. Some AI models are FDA-cleared and are being implemented in clinical settings.

How AI is used in diagnosing cardiac amyloidosis

  • Echocardiography: AI tools can analyze echocardiogram videos to detect signs of cardiac amyloidosis with high accuracy, outperforming traditional scoring methods.
  • Electrocardiogram (ECG): AI-enhanced ECG models can identify patients at high risk for cardiac amyloidosis, helping to flag them for further evaluation and monitor disease progression during treatment.
  • Scintigraphy: AI systems can analyze nuclear medicine scintigraphy scans to automatically detect cardiac amyloidosis, performing as reliably as medical experts.
  • Infrared Spectroscopy: A new method uses infrared imaging to identify the molecular “fingerprints” of amyloidosis-causing proteins. AI is used to analyze these fingerprints, providing a faster, non-invasive alternative to biopsies.

Benefits of using AI

  • Earlier detection: AI can identify the disease at an earlier stage, which is critical for starting treatment when it is most effective.
  • Improved accuracy: AI tools have shown high sensitivity and specificity in detecting amyloidosis, sometimes outperforming current clinical practices.
  • Increased efficiency: Some AI systems can provide results within minutes, speeding up the diagnostic process and integrating seamlessly into clinical workflows.
  • Reduced costs and invasiveness: AI has the potential to reduce reliance on expensive or invasive procedures, like biopsies, especially when used to screen patients.
  • Broader access: The broad applicability of AI to common tests like echocardiograms and ECGs means it can be implemented in many clinical settings.

Limitations and future directions

  • Need for prospective validation: While promising, AI models still require more testing in clinical practice to understand their full capabilities and limitations.
  • Data and transparency: Challenges remain, including the need for more diverse data and improving the transparency of AI decision-making.
  • Widespread implementation: While some AI tools have received FDA clearance and are being implemented, widespread use in routine care is still a future goal.

Ultromics’ EchoGo Amyloidosis Tool

Researchers from Mayo Clinic and Ultromics, with investigators at the University of Chicago Medicine and collaborators around the world, validated and tested EchoGo Amyloidosis on a large and multiethnic patient population and compared its abilities to other diagnostic methods for cardiac amyloidosis.

“Their findings, published in the European Heart Journal, show that the AI model was highly accurate, with 85% sensitivity (correctly identifying those with the disease) and 93% specificity (correctly identifying those without the disease). Using a single echocardiography videoclip, the model was effective across all major types of cardiac amyloidosis and distinguished it from other conditions with similar characteristics.”

An Example of AI Integrated Into Workflow at the City of Hope

Hear from Dr. Faizi A. Jamal, Chief, Division of Cardiology and Director, Non-Invasive Cardiology Laboratory at the City of Hope National Medical Center who has been at the forefront of evaluating the clinical utility of AI based review of echocardiography in the diagnosis of cardiac amyloidosis. In this video he shares his experience with Ultromics’s EchoGo Amyloidosis, and how the City of Hope has incorporated this into their clinical workflow. He discusses the typical initial reasoning for ordering echocardiograms, which is to understand the severity of issues such as HFpEF or Aortic Stenosis, and how AI can take the analysis further to explore whether cardiac amyloidosis may be an underlying cause of the condition. Dr. Jamal discusses the multiple clinical challenges to diagnosing cardiac amyloidosis and details the numerous benefits experienced from the AI based review of echocardiograms. “EchoGo Amyloidosis is going to be revolutionary, based upon the volume of undiagnosed patients that are out there. It’s going to undoubtedly detect patients and impact morbidity and mortality for this disease.”

 

Sources

AI Tool Helps Improve Detection of Cardiac Amyloidosis, University of Chicago Medicine

AI Tool Improves Accuracy of Diagnosing Cardiac Amyloidosis on MRI, Cleveland Clinic

AI-enhanced echocardiography improves early detection of amyloid buildup in the heart, Mayo Clinic

Detecting cardiac amyloidosis early from a single AI-enhanced echocardiographic video clip, Mayo Clinic

How Artificial Intelligence Can Enhance the Diagnosis of Cardiac Amyloidosis: A Review of Recent Advances and Challenges

Kamel MA, Abbas MT, Kanaan CN, Awad KA, Baba Ali N, Scalia IG, Farina JM, Pereyra M, Mahmoud AK, Steidley DE, Rosenthal JL, Ayoub C, Arsanjani R. How Artificial Intelligence Can Enhance the Diagnosis of Cardiac Amyloidosis: A Review of Recent Advances and Challenges. J Cardiovasc Dev Dis. 2024 Apr 13;11(4):118. doi: 10.3390/jcdd11040118. PMID: 38667736; PMCID: PMC11050851.

Ultromics EchoGo Amyloidosis   The first FDA-cleared, AI-based screening tool designed to help identify patients at risk of cardiac amyloidosis from an echocardiogram.

Clinical Utility of AI Based Review of Echocardiography for Diagnosis of Cardiac Amyloidosis

Dr. Faizi A. Jamal, Chief, Division of Cardiology and Director, Non-Invasive Cardiology Laboratory at the City of Hope National Medical Center has been at the forefront of evaluating the clinical utility of AI based review of echocardiography in the diagnosis of cardiac amyloidosis. In this video he shares his experience with Ultromics’s EchoGo Amyloidosis, and how the City of Hope has incorporated this into their clinical workflow. He discusses the typical initial reasoning for ordering echocardiograms, which is to understand the severity of issues such as HFpEF or Aortic Stenosis, and how AI can take the analysis further to explore whether cardiac amyloidosis may be an underlying cause of the condition. Dr. Jamal discusses the multiple clinical challenges to diagnosing cardiac amyloidosis and details the numerous benefits experienced from the AI based review of echocardiograms. “EchoGo Amyloidosis is going to be revolutionary, based upon the volume of undiagnosed patients that are out there. It’s going to undoubtedly detect patients and impact morbidity and mortality for this disease.”

Click HERE, or on graphic below to view Dr. Jamal’s video.

Amyloidosis’ Hidden Role in Heart Failure

Heart failure is a complex and debilitating condition affecting millions of individuals worldwide. While it has several underlying causes, one often-overlooked contributor to heart failure is amyloidosis.

In this month’s piece we look to the Heart Failure Society of America and their piece titled “The Silent Intruder: Amyloidosis’ Hidden Role in Heart Failure.”

Understanding Amyloidosis

Amyloidosis is a rare but serious disease characterized by the buildup of abnormal proteins in various organs, including the heart. Amyloidosis occurs when a protein called amyloid builds up in different parts of the body, including the nervous system, tissues or even organs. These abnormal proteins (amyloids) are misfolded and can impair the normal functioning of organs, including the heart. There are different types of amyloidosis, but two forms stand out for their connection to heart failure: AL amyloidosis (immunoglobulin light chain) and ATTR amyloidosis (transthyretin). Symptoms of amyloidosis may vary, depending on which organs are affected. Signs and symptoms of amyloidosis may include:

  • Severe fatigue and weakness
  • Shortness of breath
  • Numbness, tingling, or pain in the hands or feet (polyneuropathy)
  • Swelling of the ankles and legs
  • Diarrhea, possibly with blood, or constipation
  • An enlarged tongue, which sometimes looks rippled around its edge
  • Skin changes, such as thickening or easy bruising, and purplish patches around the eyes

Due to the similarity of these symptoms with other heart conditions, amyloidosis is often misdiagnosed or diagnosed late, emphasizing the importance of raising awareness about its hidden role in heart failure.  

The Hidden Role in Heart Failure (HF)

Amyloidosis can affect the heart in several ways, leading to heart failure:

  1. Cardiac Amyloidosis: In cardiac amyloidosis, sometimes called stiff heart syndrome, amyloid deposits take the place of normal heart muscle, disrupting the heart’s normal structure and function. This can lead to restrictive cardiomyopathy, a condition where the heart becomes stiff and less able to pump blood effectively.
  2. Diastolic Dysfunction: Amyloid deposits in the heart can make it difficult for the heart to relax properly during the diastolic phase, impairing its ability to fill with blood. This diastolic dysfunction can result in heart failure with preserved ejection fraction (HFpEF).
  3. Arrhythmias: Amyloidosis can disrupt the heart’s electrical system, leading to arrhythmias (irregular heart rhythms) that can further exacerbate heart failure symptoms.

Diagnosing Amyloidosis 

Amyloidosis can be confirmed through specialized tests, including tissue biopsies or imaging scans such as MRIs. Some cases of amyloidosis are hereditary, so if you or anyone else in your family has or had amyloidosis, it can be beneficial for you to take a genetic test to determine if you carry the gene.

Learn More About Amyloidosis 

Amyloidosis, which can be a hidden contributor to heart failure, deserves greater recognition and awareness within the medical community and among patients. Timely diagnosis and appropriate management can make a significant difference in the prognosis of individuals affected by amyloidosis.

WATCH: Cardiac Amyloidosis from a Cardiologist

Dr. Barry Trachtenberg, cardiologist at Houston Cardiovascular Associates, shares ways that physicians can raise their awareness of cardiac amyloidosis, whether AL or ATTR. He discusses multiple organ systems and how test results may present clues to consider amyloidosis. He offers a diagnostic algorithm with early red flags that can aid in the identification and typing of amyloidosis. Dr. Trachtenberg concludes with keys to remember, including questions to ask patients, which can elevate the suspicion of amyloidosis.

 

 

SOURCE

Heart Failure Society of America

https://hfsa.org/silent-intruder-amyloidosis-hidden-role-heart-failure

Ejection Fraction: It’s Just a Fraction

Dr. Julie Rosenthal, Director of the Cardiac Amyloidosis Program at Mayo Clinic in Arizona, introduces us to the cardiovascular system and summarizes cardiac amyloidosis. She then discusses the echocardiogram and how it is used to look for abnormalities, such as thickening of the heart wall and pericardial effusion. Animated patient videos clearly convey how an impaired amyloid heart looks from multiple perspectives. She offers a tutorial on ejection fraction, what it is, how it is calculated, and why not all ejection fractions are the same despite the numbers. Importantly, she highlights that stroke volume is actually the more meaningful measurement of a patient’s cardiac output and why.

Gesna: How Hereditary Cardiac Amyloidosis Affects Her Life

View this short video from ASB patient educator Gesna about her journey with hereditary cardiac amyloidosis. She shares the devastation of many family members lost to the disease, symptoms she now knows were “red flags” that were missed along the way to diagnosis, her life today and positive outlook for the future.

Finally, she offers a powerful message to the African American community where the need to raise awareness is an urgent call to action.

 

Many thanks to AMCP for producing this video.  AMCP, the Academy of Managed Care Pharmacy, is the professional association leading the way to help patients get the medications they need at a cost they can afford.

Patient Insights: “Athlete’s Heart”

Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. In this clip, Dan shares how his provider commented on his heart’s thickened walls – you’ve got athlete’s heart, and all’s good. A shocking missed opportunity to suspect cardiac amyloidosis. 

AL Amyloidosis: Diagnosis Begins With Suspicion

The diagnosis of amyloidosis can be challenging for several reasons.

  1. First and foremost, presenting symptoms are often nonspecific and common to other conditions that can send clinicians in multiple directions.
  2. Second, due to the variability of presenting symptoms, rarely are two patient presentations identical.
  3. Third, the diagnostic process requires (a) the confirmation of amyloidosis, and (b) the typing of amyloidosis, only after which can an appropriate treatment regimen be developed.

The perceived rarity of the disease itself gives providers pause to consider. Collectively, as a result of these reasons, diagnosis is often delayed and/or misdiagnosed, leading to devastating consequences for patients. Often, the key to diagnosis begins with developing a clinical suspicion.

DEVELOPING A CLINICAL SUSPICION FROM SYMPTOMS

The first step in diagnosing AL amyloidosis is to develop a clinical suspicion, done through connecting the seemingly random presenting symptoms.

As seen in the figure above, multiple pathologies are often present with AL amyloidosis1. The most common is cardiac involvement, which also brings the highest mortality. Other common presentations range from nephropathy, including proteinuria (> 60% of patients), hepatomegaly (>50% of patients), neuropathy, whether autonomic (20% of patients) or peripheral (10-20% of patients), macroglossia (17% of patients), periorbital purpura (15% of patients) and GI manifestations (approximately 7% of patients).

Symptoms do not develop at the same time, nor in the same sequence from patient to patient. As a result, patients and providers often play “whack-a-mole,” going from specialist to specialist for specific symptoms. Misdiagnoses along the way are common, leading patients down paths that prove unproductive and, in some cases, counterproductive. This takes time, which is exactly what patients do not realize they do not have.

Suspicion of amyloidosis should be very high when a patient presents with heart failure combined with a constellation of unexplained extracardiac symptoms such as neuropathy, bleeding, carpal tunnel syndrome, nephrotic syndrome, proteinuria, diarrhea, hepatomegaly, peripheral and autonomic neuropathy, macroglossia, and periorbital purpura.1

ALGORITHM FOR DIAGNOSING AL AMYLOIDOSIS1

The figure below illustrates the current systematic, stepwise process for diagnosing amyloid light chain (AL) amyloidosis and differentiating it from other cardiomyopathies. It identifies each type of test that is essential for suspicion of AL amyloidosis, diagnosing the disease and typing of the amyloidogenic free light chains (FLCs).

ACR = albumin/creatinine ratio

DPD = 99mTc-3-diphosphono-1,2-propanodicarboxylic acid

Echo = echocardiography

EKG =  electrocardiography

LFT = liver function test

MRI = magnetic resonance imaging

NT-proBNP = N-terminal pro–brain natriuretic peptide

PYP = 99mTc-pyrophosphate

SIFE = serum immunofixation electrophoresis

UIFE = urine immunofixation electrophoresis

 

 

TYPING AND CONFIRMING DIAGNOSIS1

Once the presence of amyloid has been confirmed, it is imperative to next identify the type of amyloid fibril in order to avoid misdiagnosis and initiation of incorrect or inappropriate treatment, which could have disastrous consequences for a patient.

The most common methods of amyloid fibril typing include immunohistochemistry or laser capture, followed by mass spectrometry. As the accuracy of immunohistochemistry is dependent on the expertise of the laboratory and needs an extensive panel of antibodies for accurate reporting, laser capture with mass spectrometry has become the method of choice for amyloid fibril typing.

Despite advances in noninvasive imaging, tissue biopsy remains a common and important confirmational step in most cases.

Once a diagnosis of amyloidosis has been confirmed, along with the specific type, an appropriate treatment regime can then be determined.

CONCLUSION – WHY EARLY DIAGNOSIS MATTERS

With AL amyloidosis, time is of the essence for patients. This is an aggressive disease where early treatment intervention can truly extend lives and improve QoL. As recently as the 1990s, this was considered a terminal disease with a high mortality rate, often offering patients months to a few years to live. With earlier diagnosis and advancements in treatments, survival is extending and QoL is improving.

IN CLOSING

The key take-aways are two-fold: (1) when confronted with multiple unexplained symptoms, suspect multi-system diseases like amyloidosis, and (2) remember that early diagnosis is key for patient survival.

For more detail on diagnosing and treating AL amyloidosis, please see the paper referenced below.

Source:

(1) Wechalekar, A, Fontana, M, Quarta, C. et al. AL Amyloidosis for Cardiologists: Awareness, Diagnosis, and Future Prospects: JACC: CardioOncology State-of-the-Art Review. J Am Coll Cardiol CardioOnc. 2022 Nov, 4 (4) 427–441.

https://doi.org/10.1016/j.jaccao.2022.08.009

Do You Need a Heart Biopsy to Diagnose Cardiac Amyloidosis?

Dr. Ahmad Masri, Director of the Cardiac Amyloidosis Program at Oregon Health & Science University (OHSU), reminds us about the traditional approach to diagnosis of cardiac amyloidosis. Unfortunately, this has not been enough. Thankfully, over the past decade that has all changed. He talks about OSHU’s approach to diagnosis today and what other data is used to arrive at a diagnosis of cardiac amyloidosis, offering four sample patient cases for insights.

ATTRUBY (acoramidis) is now FDA-APPROVED for ATTR-CM in U.S.

Attruby (Acoramidis), was approved by the FDA on November 22, 2024 for ATTR-CM patients (both wild-type and hereditary) in the U.S.

Orally-administered, Attruby is a near complete TTR stabilizer (>= 90%), designed to reduce cardiovascular death and cardiovascular-related hospitalization. In addition, Attruby has been shown to preserve the native function of TTR as a transport protein of thyroxine and vitamin A.

To honor the courage of our U.S. clinical trial participants, BridgeBio will provide these patients Attruby free for life.

Attruby

PRESS RELEASE

 

ForgingBridges:  Patient Support Services

FDA CLEARS AI SCREENING TOOL FOR CARDIAC AMYLOIDOSIS

“Echocardiography is a powerful tool for evaluating cardiac structure and function and is central to the detection and monitoring of disease,” Ross Upton, PhD, CEO and founder of Ultromics, said in a statement. “However, there are some diseases that are very challenging for even the most expert clinician to detect on an echocardiogram. Requiring only a single apical four-chamber image, EchoGo Amyloidosis identifies cardiac amyloidosis and will help drive earlier access to appropriate treatment and care for patients with this underdiagnosed disease.”

LEARN MORE ABOUT EchoGo Amyloidosis

This website uses cookies

This site uses cookies to provide more personalized content, social media features, and ads, and to analyze our traffic. We might share information about your use of our site with our social media, advertising, and analytics partners who may combine it with other information that you’ve provided to them or that they’ve collected from your use of their services. We will never sell your information or share it with unaffiliated entities.

Newsletter Icon