The focus of artificial intelligence research in cardiovascular medicine covers various applications to clinical practice. Researchers are applying deep learning algorithms to detect and diagnose disease, to predict future disease, develop algorithms for novel approaches in waveform acquisition technology, and incorporate the use of large language models and generative AI to assist with clinical diagnosis and facilitate individualized patient management. For example, researchers have developed a predictive model to determine which patients with premature ventricular contractions (PVCs), extra beats from the bottom chambers of the heart, go on to develop heart failure. Other projects include using deep learning algorithms to detect disease on the 12-lead ECG, such as valvular disease and right and left ventricular dysfunction. We are also using large language models to summarize clinical data, incorporate guideline recommendations, and facilitate personalized patient management.

Researchers use deep learning algorithms applied to vectorcardiograms. Similar to an ECG, a vectorcardiogram (VCG) is a representation of the electrical activity of the heart in the X, Y, and Z axis. While a VCG can be acquired by transforming the electrical activity mathematically from a standard ECG, it can also be acquired by novel acquisition methods that do not require patients to have access to an ECG machine. We also completed a prospective pilot implementation trial to assess how an AI algorithm in combination with a mobile application could facilitate the diagnosis and management of patients with hypertrophic cardiomyopathy.

Artificial intelligence researchers include:

• Karthik Dinakar, PhD
• Joshua Lampert, MD

Genomic technologies utilizing stem cells, gene transfer, and RNA modification offer insights into the molecular underpinnings of cardiovascular disease while enabling the development of new therapeutic approaches. Researchers are employing fundamental strategies to modify gene expression, either at the single gene level through approaches like gene therapy with modified RNA, or at the genome level using cell therapies with stem cells, exosomes, or engineered tissues. This genetic manipulation results in altered phenotypes for therapeutic aims. Additionally, our researchers examine immune responses and epigenetic modifications that control gene and protein expression in disease states.

Cardiovascular genetics researchers include:

• Deepak Atri, MD
• Amy Kontorovich, MD, PhD
• Adaya Weissler-Snir, MD

Through a $29.9 million award from the Patient-Centered Outcomes Research Institute, physician-researchers at the Mount Sinai Fuster Heart Hospital and other leaders in the field have launched the first clinical trial focusing on women and minority populations to determine which coronary revascularization procedures best improve their survival and quality of life. This research fills a substantial gap in high-quality evidence among these populations, who have historically been left out of clinical trials for cardiac procedures. The funding was awarded in 2023 and will be used to conduct the study over the next 6.5 years.

Coronary revascularization researchers include:

• Gregg W. Stone, MD

The Mount Sinai Fuster Heart Hospital is at the forefront of research in hypertrophic cardiomyopathy (HCM), participating in major trials of cardiac myosin inhibitors, a novel class of drugs developed to treat both obstructive and potentially non-obstructive HCM. Our researchers are involved in several ongoing studies, including phase 3 randomized, double-blind, placebo-controlled clinical trials evaluating the efficacy and safety of aficamten and mavacamten in patients with symptomatic obstructive and non-obstructive HCM. These trials aim to assess the safety, tolerability, and efficacy of these groundbreaking therapies compared to placebo.

In addition to drug trials, our researchers are conducting a prospective registry study to assess real-world patient characteristics, treatment patterns, and longitudinal outcomes in patients receiving various treatments for symptomatic obstructive HCM. Upcoming studies include a prospective randomized study examining the potential role of personalized accelerated atrial pacing in improving outcomes and heart failure-related symptoms in patients with non-obstructive HCM and dual chamber implantable cardioverter defibrillators or pacemakers. Furthermore, a prospective registry of patients with HCM will provide valuable insights into the genetics, clinical phenotypes, inheritance patterns, outcomes, and markers of increased risk of progression to adverse arrhythmia outcomes or heart failure in this patient population.

Hypertrophic cardiomyopathy researchers include:

• Adaya Weissler-Snir, MD

Though awareness of modifiable risk factors like smoking, unhealthy diet, and stress is increasing, our understanding of how these factors fundamentally impact cardiovascular disease progression on a biological level remains limited. Our researchers are investigating lifestyle and behavior to reveal new multidimensional mechanisms of cardiovascular pathology. We are also investigating new drugs to lower cholesterol and triglycerides, as well as exploring novel pathways to reduce blood pressure with drugs and with procedures.

Lifestyle and prevention researchers include:

• Waqas Mallick, MD
• Jeffrey I. Mechanick, MD
• Robert Rosenson, MD

Using state-of-the-art techniques in data mining, machine learning, artificial intelligence, cardiac imaging, genomics, and proteomics, researchers are investigating the genetic, demographic, and clinical underpinnings of risk stratification for pulmonary arterial hypertension. Researchers are actively developing artificial sensors for use in congestive heart failure and designing specialized extracorporeal membrane oxygenator catheters for the treatment of right heart failure and pulmonary vascular disease. The latter will be outfitted with an ambulatory backpack to facilitate a destination therapy for patients with advanced lung disease.

Researchers are also investigating key molecular mechanisms responsible for the onset and progression of heart failure and pulmonary hypertension using stem cell biology and tissue engineering. Current research centers on elucidating the role of phospholamban in the pathophysiology of inherited cardiomyopathy, as well as cutting-edge technologies to model PH using adult stem cells derived from smooth muscle and endothelial cells. In addition, researchers are conducting human translation research that utilizes sophisticated molecular imaging tools such as positron emission tomography coupled with magnetic resonance (MR) to evaluate in vivo a variety of cardiomyopathies (sarcoidosis, amyloidosis, mitral valve diseases, long COVID-related cardiopulmonary complications, and heart transplant rejection) as well as the inflammatory processes underlying PH.

Pulmonary hypertension researchers include:

• Ray Benza, MD
• Maria Giovanna Trivieri, MD, PhD

A collaborative group of labs are studying cardiovascular health within the broader context of bodily systems. Elucidating the mechanisms of inter-organ communication and their influence on the cardiovascular system necessitates multidisciplinary inquiries spanning immunology, hematology, neuroscience, biochemistry, endocrinology, and vascular biology. Researchers are utilizing diverse approaches including tissue and organoid engineering, genetic engineering and gene editing for disease modeling, computational modeling, and biomedical device development, which enable the modeling and examination of cardiovascular function from a systems-level perspective.

Systems physiology and bioengineering researchers include:

• Ray Benza, MD
• Zahi A. Fayad, PhD
• Maria Giovanna Trivieri, MD, PhD

Researchers are studying how to identify certain proteomic and genetic features of patients with fibromuscular dysplasia (FMD) as compared to a control group of individuals. All control patients are interviewed and undergo a focused examination and if there is anything to suggest FMD, they are then imaged. As part of this study, we have expanded our research to include patients with Spontaneous Coronary Artery Dissection (SCAD) and Cervical Artery Dissection (CeAD). Researchers are also collaborating with multiple centers to send the DNA of our patients with SCAD for whole exome sequencing. We are also participating in a study to analyze data from the iSCAD Registry regarding reproductive features across the lifespan in patients with SCAD. This will analyze SCAD during and post-partum, as well as hormone exposure across the lifespan and other pregnancy-related complications. 

Vascular medicine researchers include:

• Daniella Kadian-Dodov, MD
• Jeffrey W. Olin