International Bicuspid Aortic Valve Consortium (BAVCon)

NCT01980797 | Active Not Recruiting

• 2 other identifiers: H-397601R21HL150373-01
• Study Type: observational
• Target: 6,464
• Locations: 5 countries
• Sites: 12

Brief Summary

Bicuspid aortic valve (BAV) disease is the most frequent congenital cardiac malformation, occurring in 0.5-1.2% of the US population. In young adults, it is generally a benign abnormality; but in older adults it is associated with thoracic aortic aneurysm or dissection in 20-30% of those with BAV. BAV is strongly associated with early development of aortic valve calcification or incompetence in \>50% of BAV patients, and accounts for \~40% of the \>30,000 aortic valve replacements (AVR) performed in the US each year. Yet, we know little of the etiology, cellular events and modifiers of progression of BAV to calcific aortic valve disease and we still do not understand the genetic cause(s) of BAV despite evidence for its high heritability. The Specific Aims of this study are:

1. 1.To identify the genetic causes of bicuspid aortic valve disease and its associated thoracic aortic disease.
2. 2.To identify potential pathways to predict the clinical course of BAV disease and for treating human BAV disease.

Conditions

Bicuspid Aortic Valve Disease; Thoracic Aortic Disease in Patients With a Bicuspid Aortic Valve

Keywords

Bicuspid aortic valve disease; Thoracic aortic disease; Genetics; Echocardiography; Cardiac CT; Cardiac MRI

Outcome Measures

Primary Outcomes (1)

• Bicuspid aortic valve disease

  The first specific aim is to identify the genetic causes of bicuspid aortic valve disease.

  10 years

Secondary Outcomes (1)

• The development of thoracic aortic disease in patients with bicuspid aortic valve disease

  10 years

Study Arms (2)

Bicuspid aortic valve disease

Group/Cohort Label - Bicuspid aortic valve Group/Cohort Description - * Patients diagnosed with bicuspid aortic valve * All ages ≥8 years * Able to provide fully informed consent

Tricuspid aortic valve control patients

Group/Cohort Label - Tricuspid aortic valve control patients Group/Cohort Description -Control patients will come from approximately matched patients without an identified bicuspid aortic valve who are trace, gender and geographically matched. * Patients not diagnosed with bicuspid aortic valve * All ages ≥8 years * Able to provide fully informed consent

Eligibility Criteria

• Age: 8 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with and without bicuspid aortic valves disease

You may qualify if:

• Patients diagnosed as having a bicuspid aortic valve
• All ages ≥8 years
• Able to provide fully informed consent

You may not qualify if:

• None

Sponsors & Collaborators

• Boston University: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (12)

Tufts Medical Center

Boston, Massachusetts, 02111, United States

Location

Boston Medical Center

Boston, Massachusetts, 02218, United States

Location

University of Michigan

Ann Arbor, Michigan, 48109, United States

Location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

University of Texas Health Science Center at Houston

Houston, Texas, 77030, United States

Location

Laval University

Québec, Quebec, G1V 4G5, Canada

Location

Istituto Policlinico San Donato

San Donato Milanese, Milan, 20097, Italy

Location

Monaldi Hospital

Naples, 80100, Italy

Location

Second University of Naples

Naples, 80131, Italy

Location

University of Salerno

Salerno, 36-83023, Italy

Location

Hospital Vall d'Hebron

Barcelona, 08035, Spain

Location

University of Oxford

Oxford, OX3 9DU, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

We are collecting DNA from either saliva or blood.

MeSH Terms

Conditions

Bicuspid Aortic Valve Disease

Condition Hierarchy (Ancestors)

Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Aortic Valve Disease; Heart Valve Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Simon C. Body, MD, MPH

  Boston University School of Medicine, Anesthesiology Department

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 5, 2013
• First Posted: November 11, 2013
• Study Start: November 1, 2013
• Primary Completion (Estimated): November 1, 2028
• Study Completion (Estimated): November 1, 2028
• Last Updated: April 1, 2026

Record last verified: 2026-03

Locations

ES (1); IT (4); GB (1); US (5); CA (1)