Kommerell diverticulum

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ORPHA:99077Q25.4
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Overview

Kommerell diverticulum (also known as Kommerell's diverticulum) is a rare congenital vascular anomaly of the aortic arch in which there is a bulging outpouching (diverticulum) at the origin of an aberrant subclavian artery arising from the aortic arch or descending aorta. It is classified under congenital malformations of the great arteries (ICD-10: Q25.4). The diverticulum represents a remnant of the embryonic fourth aortic arch and is most commonly associated with an aberrant right subclavian artery (arteria lusoria) arising from a left aortic arch, or less frequently with an aberrant left subclavian artery from a right aortic arch. The anomaly primarily affects the cardiovascular system but can secondarily impact the respiratory and digestive systems through compression of adjacent mediastinal structures. Many individuals with Kommerell diverticulum remain asymptomatic throughout life, with the condition discovered incidentally on imaging studies. When symptoms occur, they are typically caused by compression of the esophagus (dysphagia lusoria — difficulty swallowing) or trachea (dyspnea, chronic cough, stridor, or recurrent respiratory infections). In some cases, the diverticulum may enlarge over time, and there is a recognized risk of aneurysmal dilation, dissection, or rupture, which can be life-threatening. Symptoms may present at any age, from infancy through adulthood, depending on the size of the diverticulum and degree of vascular ring formation. Management depends on the severity of symptoms and the size of the diverticulum. Asymptomatic patients with small diverticula may be monitored with periodic imaging surveillance. Surgical intervention is recommended for symptomatic patients or when the diverticulum is large (generally greater than 3 cm) due to the risk of rupture. Surgical options include open repair with division of the aberrant vessel and reimplantation, or increasingly, hybrid and endovascular approaches including thoracic endovascular aortic repair (TEVAR). Early diagnosis and appropriate management are important to prevent potentially fatal complications.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Kommerell diverticulum.

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No actively recruiting trials found for Kommerell diverticulum at this time.

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No specialists are currently listed for Kommerell diverticulum.

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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 Kommerell diverticulum.

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Community

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Common questions about Kommerell diverticulum

What is Kommerell diverticulum?

Kommerell diverticulum (also known as Kommerell's diverticulum) is a rare congenital vascular anomaly of the aortic arch in which there is a bulging outpouching (diverticulum) at the origin of an aberrant subclavian artery arising from the aortic arch or descending aorta. It is classified under congenital malformations of the great arteries (ICD-10: Q25.4). The diverticulum represents a remnant of the embryonic fourth aortic arch and is most commonly associated with an aberrant right subclavian artery (arteria lusoria) arising from a left aortic arch, or less frequently with an aberrant left s

How is Kommerell diverticulum inherited?

Kommerell diverticulum follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.