Congenital left ventricular aneurysm

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Overview

Congenital left ventricular aneurysm (also known as congenital ventricular diverticulum or congenital cardiac aneurysm) is an extremely rare structural heart defect present at birth, characterized by an abnormal outpouching or bulging of the left ventricular wall. Unlike acquired ventricular aneurysms that develop after myocardial infarction in adults, this condition arises during embryonic cardiac development. The aneurysmal wall may be composed of thinned myocardium (muscular type) or fibrous tissue (fibrous type), and the defect can vary in size and location along the left ventricle. The condition primarily affects the cardiovascular system. Clinical presentation is highly variable, ranging from asymptomatic cases discovered incidentally on imaging to severe manifestations including heart failure, arrhythmias (abnormal heart rhythms), thromboembolic events (blood clots), and, in rare cases, rupture of the aneurysm. Some patients may present with systolic murmurs, chest pain, or signs of reduced cardiac output. Congenital left ventricular aneurysms may occur in isolation or in association with other congenital anomalies, including midline thoracoabdominal defects (Cantrell's pentalogy), septal defects, or other cardiac malformations. Diagnosis is typically made through echocardiography, cardiac MRI, or CT angiography. Management depends on the size of the aneurysm, associated symptoms, and risk of complications. Asymptomatic patients with small aneurysms may be monitored with regular imaging and clinical follow-up. Surgical repair or resection is generally recommended for large or symptomatic aneurysms, those at risk of rupture, or those associated with significant arrhythmias or thrombus formation. Anticoagulation therapy may be used to prevent thromboembolic complications. Long-term prognosis varies depending on the severity of the defect and the presence of associated anomalies.

Clinical phenotype terms— hover any for plain English:

Abnormal left ventricle morphologyHP:0001711Abnormal T-waveHP:0005135Abnormal ST segmentHP:0012249
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital left ventricular aneurysm.

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No actively recruiting trials found for Congenital left ventricular aneurysm at this time.

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No specialists are currently listed for Congenital left ventricular aneurysm.

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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 Congenital left ventricular aneurysm.

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Common questions about Congenital left ventricular aneurysm

What is Congenital left ventricular aneurysm?

Congenital left ventricular aneurysm (also known as congenital ventricular diverticulum or congenital cardiac aneurysm) is an extremely rare structural heart defect present at birth, characterized by an abnormal outpouching or bulging of the left ventricular wall. Unlike acquired ventricular aneurysms that develop after myocardial infarction in adults, this condition arises during embryonic cardiac development. The aneurysmal wall may be composed of thinned myocardium (muscular type) or fibrous tissue (fibrous type), and the defect can vary in size and location along the left ventricle. The c

How is Congenital left ventricular aneurysm inherited?

Congenital left ventricular aneurysm follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Congenital left ventricular aneurysm typically begin?

Typical onset of Congenital left ventricular aneurysm is neonatal. Age of onset can vary across affected individuals.