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:
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Variable
Can be inherited in different ways depending on the underlying gene
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventUniversity of Washington — NA
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.
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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 Aneurysm of sinus of Valsalva.
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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.