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Review
. 2021 May 4;77(17):2219-2235.
doi: 10.1016/j.jacc.2021.03.012.

Lifespan Perspective on Congenital Heart Disease Research: JACC State-of-the-Art Review

Gerhard-Paul Diller  1 , Alexandra Arvanitaki  2 , Alexander R Opotowsky  3 , Kathy Jenkins  4 , Philip Moons  5 , Alexander Kempny  6 , Animesh Tandon  7 , Andrew Redington  8 , Paul Khairy  9 , Seema Mital  10 , Michael Α Gatzoulis  6 , Yue Li  11 , Ariane Marelli  12
Affiliations
Free article
Review

Lifespan Perspective on Congenital Heart Disease Research: JACC State-of-the-Art Review

Gerhard-Paul Diller et al. J Am Coll Cardiol. .
Free article

Abstract

More than 90% of patients with congenital heart disease (CHD) are nowadays surviving to adulthood and adults account for over two-thirds of the contemporary CHD population in Western countries. Although outcomes are improved, surgery does not cure CHD. Decades of longitudinal observational data are currently motivating a paradigm shift toward a lifespan perspective and proactive approach to CHD care. The aim of this review is to operationalize these emerging concepts by presenting new constructs in CHD research. These concepts include long-term trajectories and a life course epidemiology framework. Focusing on a precision health, we propose to integrate our current knowledge on the genome, phenome, and environome across the CHD lifespan. We also summarize the potential of technology, especially machine learning, to facilitate longitudinal research by embracing big data and multicenter lifelong data collection.

Keywords: artificial intelligence; congenital heart disease; disease trajectories; lifespan; precision medicine; research.

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Conflict of interest statement

Funding Support and Author Disclosures Dr. Diller has received funding from Actelion, Daiichi-Sankyo, and Bayer, previously, unrelated to the current work; and has received funding from the Karla Völlm Foundation, supporting research in the department. Dr. Arvanitaki has received the International Training and Research Fellowship EMAH Stiftung Karla Voellm, Krefeld, Germany. Dr. Tandon has received funding from the Brett Boyer Foundation, University of Texas Southwestern Center for Translational Medicine National Center for Advancing Translational Sciences of the National Institutes of Health under award number UL1TR001105; the University of Texas Southwestern Cary Council/DocStars Award, the Pogue Family Distinguished Chair in Pediatric Cardiology via Dr. Gerald Greil, and the Pogue Family Foundation Master Clinician in Pediatric Cardiology via Dr. Thomas Zellers. Dr. Khairy has received support from the André Chagnon Research Chair in Electrophysiology and Congenital Heart Disease. Dr. Mital has served as the Heart and Stroke Foundation of Canada/Robert M Freedom Chair in Cardiovascular Science; and has been a member of the Pediatric Hypertrophic Cardiomyopathy Advisory Board of Myokardia. Dr. Marelli has been awarded the Clinical Research Scholar of the Fonds de recherche du Québec–Santé (FRQ-S); and her research has been funded by the Heart and Stroke Foundation of Canada and the Canadian Institute of Health Research. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.

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