Overview
Familial bicuspid aortic valve (BAV) is an inherited heart condition in which the aortic valve — the valve that controls blood flow from the heart to the body's main artery (the aorta) — has two flaps (cusps) instead of the normal three. This is the most common congenital heart defect, and when it runs in families, it is called familial bicuspid aortic valve. Many people with a bicuspid aortic valve have no symptoms for years and may not know they have the condition until adulthood. However, over time the abnormal valve can lead to problems such as narrowing of the valve (aortic stenosis), leaking of the valve (aortic regurgitation), or enlargement (dilation) of the aorta, which increases the risk of a dangerous tear in the aortic wall (aortic dissection). Some people develop symptoms like chest pain, shortness of breath, dizziness, or fatigue, especially during exercise. In the familial form, multiple family members are affected, suggesting a strong genetic component. Treatment depends on how well the valve functions and ranges from regular monitoring with echocardiograms to medications that reduce strain on the heart, and in more severe cases, surgical repair or replacement of the aortic valve. Early detection through family screening is important because it allows doctors to monitor the heart and intervene before serious complications develop.
Also known as:
Key symptoms:
Heart murmur heard by a doctorShortness of breath, especially during exerciseChest pain or tightnessDizziness or faintingFatigue or feeling unusually tiredRapid or irregular heartbeat (palpitations)Difficulty exercising or reduced exercise toleranceSwelling in the ankles or feetNarrowing of the aortic valve (aortic stenosis)Leaking of the aortic valve (aortic regurgitation)Enlargement or widening of the aorta (aortic dilation)In severe cases, signs of heart failure
Clinical phenotype terms (12)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsCedars-Sinai Medical Center — NA
University Hospital Augsburg — NA
Xijing Hospital
Cedars-Sinai Medical Center — NA
Instituto Dante Pazzanese de Cardiologia — NA
Didier TCHETCHE
Yonsei University
National University of Ireland, Galway, Ireland
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Familial bicuspid aortic valve.
16 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial bicuspid aortic valve.
Community
No community posts yet. Be the first to share your experience with Familial bicuspid aortic valve.
Start the conversation →Latest news about Familial bicuspid aortic valve
Disease timeline:
New recruiting trial: The BRAVE Study- The Identification of Genetic Variants Associated With Bicuspid Aortic Valve Using a Combination of Case-control and Family-based Approaches.
A new clinical trial is recruiting patients for Familial bicuspid aortic valve
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How well is my aortic valve currently functioning, and is there any narrowing or leaking?,Is my aorta enlarged, and how often should it be monitored?,Are there any activities or sports I should avoid?,Should my family members (parents, siblings, children) be screened with an echocardiogram?,Would genetic testing be helpful for my family?,At what point would surgery be recommended, and what type of surgery would be best for me?,Do I need to take any medications now, and do I need antibiotics before dental procedures?
Common questions about Familial bicuspid aortic valve
What is Familial bicuspid aortic valve?
Familial bicuspid aortic valve (BAV) is an inherited heart condition in which the aortic valve — the valve that controls blood flow from the heart to the body's main artery (the aorta) — has two flaps (cusps) instead of the normal three. This is the most common congenital heart defect, and when it runs in families, it is called familial bicuspid aortic valve. Many people with a bicuspid aortic valve have no symptoms for years and may not know they have the condition until adulthood. However, over time the abnormal valve can lead to problems such as narrowing of the valve (aortic stenosis), lea
How is Familial bicuspid aortic valve inherited?
Familial bicuspid aortic valve follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Familial bicuspid aortic valve?
Yes — 16 recruiting clinical trials are currently listed for Familial bicuspid aortic valve on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Familial bicuspid aortic valve?
12 specialists and care centers treating Familial bicuspid aortic valve are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.