Related Experiment Video
Updated: Apr 23, 2026
06:26
Novel and Innovative Hybrid Technique for Type A Aortic Dissection
Published on: March 28, 2025
1.3K
Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation
Stephanie M Ware1, Amy Shikany2, Benjamin J Landis2
1Division of Human Genetics, and Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio stware@iu.edu.
Pediatrics
|September 17, 2014
Summary
This study details identical twins with severe thoracic aortic aneurysm (TAA) caused by a new ACTA2 gene mutation. Congenital mydriasis, a sign of smooth muscle dysfunction, was noted, highlighting its importance in identifying vascular disease risks.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Pediatric Cardiology
Background:
- Thoracic aortic aneurysm (TAA) is a genetic disorder with varied onset.
- Pediatric nonsyndromic TAA typically presents less severely than syndromic forms like Marfan or Loeys-Dietz syndromes.
Observation:
- Identical 17-year-old twin brothers presented with severe, progressive TAA.
- Both were diagnosed at age 11 with congenital mydriasis, linked to smooth muscle dysfunction.
- One twin experienced abdominal aortic aneurysm dissection; both had severe fusiform TAA.
Findings:
- A novel de novo ACTA2 mutation was identified as the cause of TAA in the twins.
- Despite valve-sparing aortic root replacement, both brothers experienced progressive aortic disease and recurrent dissections.
- Congenital mydriasis served as an early indicator of underlying smooth muscle dysfunction and aortopathy.
Implications:
- This case underscores the significance of recognizing physical signs of smooth muscle dysfunction, such as mydriasis.
- Early identification of mydriasis can aid in detecting associated aortopathy and vascular diseases.
- Understanding ACTA2 mutations is crucial for managing severe TAA and related vascular complications in affected individuals.
Related Concept Videos
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
581
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
581
01:30Aneurysm I: Introduction
646
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
646
01:26Aneurysm III: Interprofessional Care
477
Aneurysm management involves either conservative medical therapy or surgical intervention, depending on the size and symptoms of the aneurysm. Conservative management is generally reserved for smaller, asymptomatic aneurysms, while larger or symptomatic aneurysms often necessitate surgical repair.Conservative Medical TherapyFor small, asymptomatic aneurysms, particularly abdominal aortic aneurysms (AAA) less than 5.5 centimeters in diameter, conservative medical therapy is recommended. This...
477
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests
1.1K
Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
1.1K
01:15Aortic Regurgitation I: Introduction
1.6K
IntroductionAortic regurgitation is characterized by the backward flow of blood from the aorta into the left ventricle during diastole and arises from the improper closure of the aortic valve. This condition results in left ventricular volume overload and can stem from both acute and chronic etiologies, each contributing uniquely to the disease's progression and symptomatology.Acute and Chronic CausesAcute aortic regurgitation often results from events that suddenly impair the integrity of the...
1.6K
01:25Aortic Regurgitation III: Medical Management
581
Aortic regurgitation (AR) is when the aortic valve does not close or seal properly, leading to backward blood circulation from the aorta into the left ventricle during diastole. Common causes of AR include rheumatic heart disease, congenital valve defects, and aortic root dilation. Managing AR requires a multifaceted approach to alleviate symptoms, preserve left ventricular function, and address the underlying cause of the regurgitation. Patients with symptomatic AR or significant left...
581