Heart Disease Phenomics

The Laboratory of Heart Disease Phenomics, established in 2021, is dedicated to understanding the evolving burden of cardiovascular diseases (CVD) across populations and its impact on health. Our research spans the entire CVD continuum—from etiology to outcomes (morbidity and mortality).

Using surveillance epidemiology methods in large-scale, nationally representative datasets, we have documented the prevalence and outcomes of CVD across person, time and place. In disease-specific cohorts, using multi-omics approaches, and advanced analytical methods such as machine learning, we have demonstrated that novel molecular methods, such as proteomics and targeted metabolomics, can significantly enhance the assessment of heart failure (HF) risk, paving the way for precision interventions.

Our initial research focus has been on investigating heart failure (HF) phenotypes, prevention strategies, and outcomes. Despite a more than 40% decline in heart disease mortality in the United States between 1980 and 2000, this positive trend has stalled and even reversed since 2015 due to a significant increase in HF-related deaths. This alarming trend indicates that the HF epidemic, which began gaining attention in 1997, remains unresolved and undermines progress against heart disease mortality. These critical observations underscore the urgent need for a renewed focus on the HF epidemic, recognizing its complex, syndromic nature while deploying molecular methods.

HF is not a single disease and is traditionally classified based on ejection fraction (EF). However, this approach fails to capture the full complexity and heterogeneity of HF and its underlying mechanisms. These gaps in knowledge impede therapeutic progress, and treatment trials for HF with preserved EF have often been disappointing or lack mechanistic explanations when they are promising.

One of our key research areas is the study of novel molecular phenotypes and the application of contemporary analytical methods. Our goal is to identify molecular phenotypes that contribute to understand the mechanisms of HF, while considering its integration with aging and multimorbidity. Our central objective is to develop a novel approach to HF phenotyping, which will support health equity and lead to the development of new therapeutics. 

Our approach integrates molecular assays, robust epidemiological methods, and rigorous analytical techniques. We utilize comprehensive, multidisciplinary longitudinal datasets, including electronic medical records from thousands of “real world” patients with HF, and have access to valuable biospecimens. 

Our team is committed to mentoring and training the next generation of scientists. We collaborate actively with laboratories within the NHLBI Division of Intramural Research, other NIH institutes (NCI and NIA), and national and international scientists.