Amyloidosis (am-uh-loi-DO-sis) is a rare disease that occurs when a substance called amyloid builds up in your organs. Amyloid is an abnormal protein that is produced in your bone marrow and can be deposited in any tissue or organ. Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system and digestive tract.

Understanding the Context

It is often [โ€ฆ] Dr. Martha Grogan, explains what cardiac amyloidosis is and why knowing the type of amyloid is key to treatment. Cardiac amyloidosis is one of them and is one of the heart conditions that affect the heart-pumping function of the muscle. Having a strong family history of traditional risk factors, such as high blood pressure and diabetes, significantly increases the risk of developing heart disease.

Key Insights

Mayo Clinic and Ultromics developed an AI model for highly accurate screening of cardiac amyloidosis, a rare and progressive heart failure. The FDA-cleared model, validated on a large, multiethnic population, boasts 85% sensitivity and 93% specificity, outperforming traditional methods. Early diagnosis is crucial due to available treatments, and this AI tool promises improved patient outcomes. A health care provider may suspect cardiac amyloidosis if a patient's echocardiogram or MRI shows certain heart characteristics, such as thickened walls, abnormal strain and restricted filling of blood. A patient may have unexplained heart failure, stroke or atrial arrhythmia that can be traced back to amyloid.

Final Thoughts

On the Mayo Clinic Q&A podcast, Mayo Clinic cardiologist Dr. Melissa Lyle discusses diagnosis, standard treatment options and new therapies for treating cardiac amyloidosis. Early diagnosis is critical because, while amyloidosis is not curable, it is treatable with new medical therapies that can dramatically reduce the amount of amyloid produced and stop disease progression. Using ECG-AI, clinicians at Mayo Clinic can potentially flag patients who are in the early stages of cardiac amyloidosis. I became very interested in amyloidosis, which opened up all sorts of opportunities to collaborate with this wonderful multidisciplinary team that won the Team Science Award. Now we have a major cardiac amyloid research program that is supported by six full-time study coordinators enrolling patients in clinical trials.