Registries

There are many regional, national, and international registries that are studying genetic aortic conditions and from a variety of perspectives.  By connecting these registries with one another, with investigators, and with patients and families, we believe that the pace of research, improved diagnosis, improved care, and improved understanding of both patients and providers alike will be enhanced.

The Bicuspid Aortic Valve Registry

The Bicuspid Aortic Valve Registry at the University of Michigan aims to learn more about individuals with congenital bicuspid aortic valves and associated proximal aortic conditions, including aneurysm and dissection. Our registry has been actively collecting genotype and phenotype data for nearly a decade to unravel the genetics underlying bicuspid aortic valve syndrome with nearly 1100 patients enrolled.

The Bicuspid Aortic Valve Consortium

The Bicuspid Aortic Valve Consortium (BAVCon) is a collaboration of Cardiologists, Cardiac Surgeons, Radiologists and Anesthesiologists from 16 institutions in Europe, North America, South America and Australia who are dedicated to the discovery and treatment of diseases of the bicuspid aortic valve and the ascending aorta.  Particular interests of the consortium are the genetic causes of the bicuspid aortic valve, the frequent stenosis of the valve and the observed aortic aneurysm, frequently seen in concert.

The Ehlers Danlos Society

GenTAC

GenTAC was funded between 2006 and 2016, and enrolled over 3600 participants The overall objective of GenTAC was to establish a registry of patients with genetically induced thoracic aortic aneurysms and related cardiovascular conditions, and collect associated medical data, as well as blood and tissue samples and make them available to investigators to advance research in diagnosis and management of genetically induced thoracic aortic aneurysms.

GenTAC data, biospecimens and images are available at the link below.

IRAD

The Marfan and Related Conditions International Registry

The Marfan and Related Conditions International Registry, created by The Marfan Foundation and Backpack Health, collects information through a cloud-based app that patients use to easily and securely compile their personal health records. Once they subscribe to the app, they can consent to join the Marfan and Related Disorder International Patient Registry, which will de-identify and aggregate their data. Through the registry, which is available in five languages, patients can also participate in surveys and play an active role in research that may lead to new treatments and a better life for all those affected.

The Montalcino Aortic Consortium

In 2014, The Montalcino Aortic Consortium (MAC) was launched in 2013 around the need for international cooperation in the study of human diseases that affect the aorta and its major branches that are largely determined by variation in genes.  MAC is a consortium of prominent clinical, basic and translational researchers in academic medical center around the world committed to the defining the optimal clinical management of patients with heritable thoracic aortic disease due to pathogenic mutations in genes and use these data to improve the outcome of aortic disease in these patients through gene-specific management, molecular studies, and clinical trials.  The Registry provides invaluable assistance to researchers and clinicians to improve the understanding the pathogenesis of aortic diseases, in both adults and children and establishing the most effective treatment approaches for these individuals.

The goals for the MAC are the following:

• To improve the diagnostic criteria of a growing list of genes that trigger thoracic aortic disease
  
  
• To understand the natural and clinical histories of these conditions
  
  
• To discover additional genetic variations that predispose to heritable thoracic aortic disease
  
  
• To discover and test new approaches to treatment
  
  
• And to facilitate collaborations in all of these endeavors

The Turner Syndrome Research Registry

The Turner Syndrome Research Registry is a patient-powered database seeking collaborations with clinicians and basic researchers committed to advancing the health of girls and women living with Turner syndrome. Applications for access to the Registry will soon be available. The registry is supported by the Turner Syndrome Society of the United States through Genetic Alliance's PEER (Platform for Engaging Everyone Responsibly) software.

The STS Adult Cardiac Surgery Database

The STS Adult Cardiac Surgery Database (ACSD) is the world's premier clinical outcomes registry for adult cardiac surgery. Launched in 1989, the Database contains more than 6.5 million cardiac surgery procedure records and currently has nearly 3,800 participating physicians, including surgeons and anesthesiologists.

Click here to visit the STS Database website.