Heart Disease Phenomics

The Laboratory of Heart Disease Phenomics works on the investigation of heart failure (HF) phenotypes and outcomes, a central domain of the work of the ECHB Chief over the past decade. In doing so, we apply novel ascertainment and analytical methods critical to contemporary epidemiology. Our goal is to delineate phenotypes and mechanisms of the HF syndrome, while integrating its intersection with aging in diverse populations.

Between 1980 and 2000, heart disease mortality declined by more than 40% in the United States. However, since the turn of the century, this trend decelerated, then stagnated, and finally reversed direction in 2015 due to a major increase in deaths attributed to HF. These alarming data indicate that the epidemic of HF heralded in 1997 remains uncontrolled and compromises progress made against heart disease mortality. These critical observational epidemiology findings provide a compelling rationale to urgently address the epidemic of HF, which requires recognizing the complexity of the syndromic nature of HF and its unequal burden across diverse populations.

HF is not a single disease and to date it is mainly characterized according to the ejection fraction (EF), an approach which does not capture the complexity and heterogeneity of the HF syndrome, and its mechanisms. These gaps in knowledge hinder therapeutic progress and treatment trials of HF with preserved EF have largely been disappointing or when encouraging lack mechanistic explanations.

Overcoming the HF epidemic requires the identification of mechanistic phenotypes of the HF syndrome. Our central goal is to address this gap in knowledge by a novel approach to HF phenotyping, paving the way to the discovery of new therapeutic targets. Our approach is grounded in the integration of robust epidemiology methods to rigorous analytical approaches to identify new phenotypes.

We leverage multidisciplinary and comprehensive longitudinal datasets for thousands of community patients with HF with access to biospecimens. Grounding this approach is an unwavering commitment to study and engage diverse populations.