Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Summary

The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.

Conditions

• Aortic Valve Disease
• Thoracic Aortic Disease
• Aortopathies
• Thoracic Aortic Aneurysm
• Thoracic Aortic Dissection
• Thoracic Aortic Rupture
• Ascending Aortic Disease
• Descending Aortic Disease
• Ascending Aortic Aneurysm
• Descending Aortic Aneurysm
• Marfan Syndrome
• Loeys-Dietz Syndrome
• Vascular Ehlers-Danlos Syndrome
• Shprintzen-Goldberg Syndrome
• Turner Syndrome
• PHACE Syndrome
• Autosomal Recessive Cutis Laxa
• Congenital Contractural Arachnodactyly
• Arterial Tortuosity Syndrome
• Bicuspid Aortic Valve-Associated Aortopathy
• Bicuspid Aortic Valve
• Familial Thoracic Aortic Aneurysm and Aortic Dissection

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI)

  collaborator NIH

• Yale University

  lead OTHER

Principal Investigators

• Benjamin Landis, MD · Yale University

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2015-12-10

Primary Completion

2030-12-31

Completion

2030-12-31

Countries

• United States

Study Locations