Related Experiment Video
Updated: Jan 1, 2026
05:31
Murine Model of Thoracic Aortic Dissection Induced by Oral β-Aminopropionitrile and Subcutaneous Angiotensin II Infusion
Published on: May 16, 2025
741
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications
Thais Faggion Vinholo1, Adam J Brownstein2, Bulat A Ziganshin1,3
1Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut.
Aorta (Stamford, Conn.)
|December 17, 2019
Summary
Genetic research has identified 37 genes linked to familial thoracic aortic aneurysm and dissection (TAAD). This advances personalized aortic care and surgical intervention strategies for this typically silent, lethal disease.
Area of Science:
- Cardiovascular Genetics
- Aortic Diseases
- Medical Genetics
Background:
- Thoracic aortic aneurysm (TAA) is a dangerous condition often presenting without symptoms.
- Familial inheritance patterns of TAAD have been recognized for nearly two decades.
- Significant progress has been made in identifying genetic factors contributing to TAAD.
Purpose of the Study:
- To provide an annual update on genes associated with thoracic aortic aneurysm and dissection (TAAD).
- To discuss the clinical implications of these genetic findings for surgical management.
- To highlight the role of molecular genetics in advancing personalized aortic care.
Main Methods:
- Review of recently identified genes linked to TAAD.
- Analysis of the prevalence of pathogenic mutations in familial nonsyndromic TAAD.
- Synthesis of genetic discoveries and their impact on clinical practice.
Main Results:
- At least 37 genes have been identified as causing TAAD.
- Approximately 30% of patients with familial nonsyndromic TAAD carry a pathogenic mutation.
- Ongoing research continues to expand the catalog of TAAD-associated genes.
Conclusions:
- Genetic understanding of TAAD has rapidly evolved.
- Identification of specific gene mutations allows for more personalized patient care.
- Molecular genetics is crucial for guiding surgical interventions in TAAD patients.
Related Concept Videos
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
160
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...
160
01:30Aneurysm I: Introduction
234
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...
234
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests
333
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...
333
01:15Thoracic Aorta
1.4K
The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
1.4K
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
401
Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
401
01:15Aortic Regurgitation I: Introduction
395
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...
395