Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease

Thoracic aortic aneurysms predisposing to aortic dissections are rare but potentially deadly conditions that can be inherited in families. Understanding the natural history and genetic causes of thoracic aortic disease (TAD) requires international collaboration. The aim of this project is to provide...

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Main Authors: Andreina Carbone, MD, Mary J. Roman, MD, Melissa L. Russo, MD, Kathryn W. Holmes, MD, MPH, Maya Brown-Zimmerman, MPH, CGC, John Elefteriades, MD, Catherine M. Otto, MD, Nicholas S. Burris, MD, Carlos Alberto Campello Jorge, MD, Scott C. DeRoo, MD, Maral Ouzounian, MD, PhD, Matthew D. Solomon, MD, PhD, Jay D. Humphrey, PhD, Bart Loeys, MD, PhD, Shaine A. Morris, MD, MPH, Guillaume Jondeau, MD, PhD, Scott A. LeMaire, MD, Sherene Shalhub, MD, MPH, Siddharth K. Prakash, MD, PhD
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:JACC: Advances
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Online Access:http://www.sciencedirect.com/science/article/pii/S2772963X25004259
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author Andreina Carbone, MD
Mary J. Roman, MD
Melissa L. Russo, MD
Kathryn W. Holmes, MD, MPH
Maya Brown-Zimmerman, MPH, CGC
John Elefteriades, MD
Catherine M. Otto, MD
Nicholas S. Burris, MD
Carlos Alberto Campello Jorge, MD
Scott C. DeRoo, MD
Maral Ouzounian, MD, PhD
Matthew D. Solomon, MD, PhD
Jay D. Humphrey, PhD
Bart Loeys, MD, PhD
Shaine A. Morris, MD, MPH
Guillaume Jondeau, MD, PhD
Scott A. LeMaire, MD
Sherene Shalhub, MD, MPH
Siddharth K. Prakash, MD, PhD
author_facet Andreina Carbone, MD
Mary J. Roman, MD
Melissa L. Russo, MD
Kathryn W. Holmes, MD, MPH
Maya Brown-Zimmerman, MPH, CGC
John Elefteriades, MD
Catherine M. Otto, MD
Nicholas S. Burris, MD
Carlos Alberto Campello Jorge, MD
Scott C. DeRoo, MD
Maral Ouzounian, MD, PhD
Matthew D. Solomon, MD, PhD
Jay D. Humphrey, PhD
Bart Loeys, MD, PhD
Shaine A. Morris, MD, MPH
Guillaume Jondeau, MD, PhD
Scott A. LeMaire, MD
Sherene Shalhub, MD, MPH
Siddharth K. Prakash, MD, PhD
author_sort Andreina Carbone, MD
collection DOAJ
description Thoracic aortic aneurysms predisposing to aortic dissections are rare but potentially deadly conditions that can be inherited in families. Understanding the natural history and genetic causes of thoracic aortic disease (TAD) requires international collaboration. The aim of this project is to provide core data elements that can be assessed directly and summarized efficiently in research records while developing standards to harmonize data across registries and clinical trials. Ten contemporary TAD registries were analyzed to identify significant gaps in the amount and types of data that are needed for accurate, verifiable, and reproducible studies. The set of data elements recommended by this expert panel is intended to serve as a roadmap for future research combining precision clinical data with genetic and/or computational data to uncover new TAD phenotypes and risk factors. Standardization of data-acquisition protocols and definition of minimum requirements for computational modeling will be essential for future collaborative studies.
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spelling doaj-art-149d0cfd93354300864fb721051fc2c32025-08-20T03:12:57ZengElsevierJACC: Advances2772-963X2025-08-014810200110.1016/j.jacadv.2025.102001Minimum Core Data Elements for Evaluation of Thoracic Aortic DiseaseAndreina Carbone, MD0Mary J. Roman, MD1Melissa L. Russo, MD2Kathryn W. Holmes, MD, MPH3Maya Brown-Zimmerman, MPH, CGC4John Elefteriades, MD5Catherine M. Otto, MD6Nicholas S. Burris, MD7Carlos Alberto Campello Jorge, MD8Scott C. DeRoo, MD9Maral Ouzounian, MD, PhD10Matthew D. Solomon, MD, PhD11Jay D. Humphrey, PhD12Bart Loeys, MD, PhD13Shaine A. Morris, MD, MPH14Guillaume Jondeau, MD, PhD15Scott A. LeMaire, MD16Sherene Shalhub, MD, MPH17Siddharth K. Prakash, MD, PhD18Department of Public Health, University of Naples “Federico II”, Naples, Italy; Unit of Cardiology, University of Campania “Luigi Vanvitelli”, Naples, ItalyDivision of Cardiology, Department of Medicine, Weill Cornell Medical Center, New York, New York, USADepartment of Maternal-Fetal Medicine & Reproductive Genetics, Warren Alpert School of Medicine, Brown University, Providence, Rhode Island, USADepartment of Pediatrics, Oregon Health and Science University, Portland, Oregon, USADepartment of Genetics, Norton Children’s Hospital, Louisville, Kentucky, USASection of Cardiac Surgery, Yale University School of Medicine, New Haven, Connecticut, USADivision of Cardiology, Department of Medicine, University of Washington School of Medicine, Seattle, Washington, USACardiovascular Imaging, Department of Radiology, University of Wisconsin-Madison, Madison, Wisconsin, USACardiothoracic Radiology, Department of Radiology, University of Michigan, Ann Arbor, Michigan, USADepartment of Cardiothoracic Surgery, University of Washington, Seattle, Washington, USADivision of Cardiac Surgery, University of Toronto, Toronto, Ontario, CanadaDepartment of Cardiology, Kaiser Permanente, Pleasanton, California, USADepartment of Biomedical Engineering, Yale University, New Haven, Connecticut, USACenter for Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp Belgium & Department of Human Genetics, Radboud University Medical Center, Nijmegen, The NetherlandsDepartment of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, Texas, USAReference Center for Marfan Syndrome and Related Diseases, Cardiology Department, APHP, Hospital Bichat, Université Paris Cité, INSERM, Paris, FranceDepartment of Cardiothoracic Surgery, Geisinger Commonwealth School of Medicine, Danville, Pennsylvania, USADepartments of Surgery and Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USADepartment of Internal Medicine, McGovern Medical School at UTHealth Houston, Houston, Texas, USA; Address for correspondence: Dr Siddharth K. Prakash, Department of Internal Medicine, John P. and Kathrine G. McGovern Medical School, The University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 6.116, Houston, Texas 77030 USA.Thoracic aortic aneurysms predisposing to aortic dissections are rare but potentially deadly conditions that can be inherited in families. Understanding the natural history and genetic causes of thoracic aortic disease (TAD) requires international collaboration. The aim of this project is to provide core data elements that can be assessed directly and summarized efficiently in research records while developing standards to harmonize data across registries and clinical trials. Ten contemporary TAD registries were analyzed to identify significant gaps in the amount and types of data that are needed for accurate, verifiable, and reproducible studies. The set of data elements recommended by this expert panel is intended to serve as a roadmap for future research combining precision clinical data with genetic and/or computational data to uncover new TAD phenotypes and risk factors. Standardization of data-acquisition protocols and definition of minimum requirements for computational modeling will be essential for future collaborative studies.http://www.sciencedirect.com/science/article/pii/S2772963X25004259aneurysmaortopathyclinical researchdissectionthoracic aortic disease
spellingShingle Andreina Carbone, MD
Mary J. Roman, MD
Melissa L. Russo, MD
Kathryn W. Holmes, MD, MPH
Maya Brown-Zimmerman, MPH, CGC
John Elefteriades, MD
Catherine M. Otto, MD
Nicholas S. Burris, MD
Carlos Alberto Campello Jorge, MD
Scott C. DeRoo, MD
Maral Ouzounian, MD, PhD
Matthew D. Solomon, MD, PhD
Jay D. Humphrey, PhD
Bart Loeys, MD, PhD
Shaine A. Morris, MD, MPH
Guillaume Jondeau, MD, PhD
Scott A. LeMaire, MD
Sherene Shalhub, MD, MPH
Siddharth K. Prakash, MD, PhD
Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease
JACC: Advances
aneurysm
aortopathy
clinical research
dissection
thoracic aortic disease
title Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease
title_full Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease
title_fullStr Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease
title_full_unstemmed Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease
title_short Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease
title_sort minimum core data elements for evaluation of thoracic aortic disease
topic aneurysm
aortopathy
clinical research
dissection
thoracic aortic disease
url http://www.sciencedirect.com/science/article/pii/S2772963X25004259
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