Cardiac Amyloidosis Discovery Trial

Overview

This is a single center, diagnostic clinical trial in which the investigators aim to prospectively validate a deep learning model that identifies patients with features suggestive of cardiac amyloidosis, including transthyretin cardiac amyloidosis (ATTR-CA). Cardiac Amyloidosis is an age-related infiltrative cardiomyopathy that causes heart failure and death that is frequently unrecognized and underdiagnosed. The investigators have developed a deep learning model that identifies patients with features of ATTR-CA and other types of cardiac amyloidosis using echocardiographic, ECG, and clinical factors. By applying this model to the population served by NewYork-Presbyterian Hospital, the investigators will identify a list of patients at highest predicted risk for having undiagnosed cardiac amyloidosis. The investigators will then invite these patients for further testing to diagnose cardiac amyloidosis. The rate of cardiac amyloidosis diagnosis of patients in this study will be compared to rate of cardiac amyloidosis diagnosis in historic controls from the following two groups: (1) patients referred for clinical cardiac amyloidosis testing at NewYork-Prebysterian Hospital and (2) patients enrolled in the Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations (SCAN-MP) study.

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.