Cardiac Amyloidosis Discovery Trial

Heart failure is a leading cause of death in the United States and throughout the world. One cause of heart failure is transthyretin cardiac amyloidosis (ATTR-CA), in which misfolded proteins deposit into the heart. This condition is often diagnosed very late when patients have severe symptoms. In this study, the investigators are trying to use a computer algorithm to find patients with cardiac amyloidosis that has not been diagnosed or suspected by their doctors. The investigators will look at patients seen at Columbia University Irving Medical Center and use our algorithm to identify 100 patients with a high probability of having cardiac amyloidosis and bring them in to be tested.

• ATTR-CA diagnosis: A diagnosis of ATTR-CA will be made according to consensus guidelines by an amyloidosis expert. These criteria include either (1) imaging criteria with requires that a patient's cardiac amyloid scintigraphy single-photon emission computed tomography (SPECT) scan shows myocardial uptake, increase left ventricular (LV) wall thickness by cardiac imaging that is unexplained by loading conditions, and follow-up monoclonal protein testing shows no evidence of clinical amyloid light-chain (AL) amyloidosis or (2) pathologic criteria with a biopsy showing systemic transthyretin deposition.
• Cardiac amyloidosis (AL-CA) diagnosis: A clinical diagnosis of AL-CA will be by an amyloidosis expert according to society guidelines. These includes a diagnosis made in one of the following settings: (1) cardiac biopsy showing AL deposition and (2) extra-cardiac biopsy showing AL deposition with typical cardiac features on imaging such as echocardiography or cardiac magnetic resonance imaging.

Inclusion criteria

• High predicted probability of having cardiac amyloidosis as determined by deep learning model.
• Age ≥ 50 years.
• Electronically stored ECG and echocardiogram within 5 years of study start date.
• Ability for the patient or health care proxy to understand and sign the informed consent after the study has been explained.

Exclusion criteria

• Primary amyloidosis (AL) or secondary amyloidosis (AA).
• Prior liver or heart transplantation.
• Active malignancy or non-amyloid disease with expected survival of less than 1 year.
• Previous testing for cardiac amyloidosis such as amyloid nuclear scintigraphy, cardiac, or fat pad biopsy.
• Impairment from stroke, injury or other medical disorder that precludes participation in the study.
• Disabling dementia or other mental or behavioral disease
• Nursing home resident.