Aneurysm of sinus of Valsalva

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:1054Q25.4
Who is this for?
Show terms as
1Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Aneurysm of sinus of Valsalva (also known as aortic sinus aneurysm or Valsalva sinus aneurysm) is a rare cardiac condition in which one or more of the three sinuses of Valsalva — the dilated portions of the aortic root located just above the aortic valve — become abnormally enlarged or form an outpouching. The condition can be congenital or acquired. Congenital forms result from a deficiency in the continuity between the aortic media and the fibrous annulus of the aortic valve, leading to progressive weakening and dilation of the sinus wall. The right coronary sinus is most commonly affected, followed by the noncoronary sinus. Acquired causes include infections (such as endocarditis or syphilis), degenerative diseases, trauma, and connective tissue disorders such as Marfan syndrome. Many patients remain asymptomatic for years, with the aneurysm discovered incidentally during cardiac imaging. However, the most serious complication is rupture of the aneurysm, which typically occurs into the right ventricle or right atrium, creating an aortocardiac fistula. Rupture may present acutely with sudden chest pain, dyspnea, a continuous heart murmur, and signs of heart failure, or it may develop gradually. Unruptured aneurysms can cause symptoms by compressing adjacent cardiac structures, leading to arrhythmias (including heart block), right ventricular outflow tract obstruction, or coronary artery compression causing myocardial ischemia. The condition is frequently associated with other congenital heart defects, most notably ventricular septal defect, which is present in 30–60% of cases, as well as aortic regurgitation and bicuspid aortic valve. Treatment depends on the clinical presentation. Unruptured, asymptomatic aneurysms may be monitored with regular echocardiographic surveillance. Ruptured aneurysms and symptomatic cases require intervention, with surgical repair being the gold standard. Open-heart surgery involves closure of the fistula and repair or replacement of the aortic valve if needed. In selected cases, percutaneous transcatheter closure using occluder devices has emerged as a less invasive alternative. Early diagnosis and timely intervention are associated with excellent long-term outcomes, while untreated ruptured aneurysms carry significant morbidity and mortality due to progressive heart failure.

Also known as:

Clinical phenotype terms— hover any for plain English:

Dilatation of the sinus of ValsalvaHP:0011645Bacterial endocarditisHP:0006689OliguriaHP:0100520
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
May 2022Cervical Cancer Elimination -Using Implementation Science to Evaluate Deliver and Cost Introduction of Thermal Ablation

University of Washington — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Aneurysm of sinus of Valsalva.

View clinical trials →

No actively recruiting trials found for Aneurysm of sinus of Valsalva at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Aneurysm of sinus of Valsalva community →

Specialists

1 foundView all specialists →
EM
Emmanuel LANSAC, MD,PhD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Aneurysm of sinus of Valsalva.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Aneurysm of sinus of ValsalvaForum →

No community posts yet. Be the first to share your experience with Aneurysm of sinus of Valsalva.

Start the conversation →

Latest news about Aneurysm of sinus of Valsalva

Disease timeline:

New recruiting trial: Cervical Cancer Elimination -Using Implementation Science to Evaluate Deliver and Cost Introduction of Thermal Ablation

A new clinical trial is recruiting patients for Aneurysm of sinus of Valsalva

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.

Common questions about Aneurysm of sinus of Valsalva

What is Aneurysm of sinus of Valsalva?

Aneurysm of sinus of Valsalva (also known as aortic sinus aneurysm or Valsalva sinus aneurysm) is a rare cardiac condition in which one or more of the three sinuses of Valsalva — the dilated portions of the aortic root located just above the aortic valve — become abnormally enlarged or form an outpouching. The condition can be congenital or acquired. Congenital forms result from a deficiency in the continuity between the aortic media and the fibrous annulus of the aortic valve, leading to progressive weakening and dilation of the sinus wall. The right coronary sinus is most commonly affected,

At what age does Aneurysm of sinus of Valsalva typically begin?

Typical onset of Aneurysm of sinus of Valsalva is adult. Age of onset can vary across affected individuals.

Which specialists treat Aneurysm of sinus of Valsalva?

1 specialists and care centers treating Aneurysm of sinus of Valsalva are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.