Related Experiment Video
Updated: Jul 10, 2026
07:21
Subcutaneous Angiotensin II Infusion using Osmotic Pumps Induces Aortic Aneurysms in Mice
Published on: September 28, 2015
Aortic dilatation in Cockayne syndrome
Caroline Ovaert1, Aline Cano, Brigitte Chabrol
1Paediatric Cardiology, La Timone Children's Hospital, Marseille, France. ovaert@pedi.ucl.ac.be
American Journal of Medical Genetics. Part A
|October 16, 2007
Summary
Cockayne syndrome, a premature aging disorder, may involve the aorta. This study highlights ascending aorta dilatation as a potential feature, suggesting cardiovascular monitoring for affected individuals.
Area of Science:
- Genetics and rare diseases
- Cardiovascular medicine
- DNA repair mechanisms
Background:
- Cockayne syndrome (CS) is a rare genetic disorder characterized by growth failure, premature aging, and DNA repair defects.
- Cardiac involvement is rarely reported in CS, with only one case of dilated cardiomyopathy previously noted.
Observation:
- This report details a patient with Cockayne syndrome who presented with significant ascending aorta dilatation.
- The patient also exhibited mild aortic regurgitation.
Findings:
- Ascending aorta dilatation may be an underrecognized feature of the premature aging phenotype in Cockayne syndrome.
- This finding suggests a potential link between CS and cardiovascular abnormalities beyond previously described conditions.
Implications:
- Cardiovascular investigation and regular monitoring should be considered for patients diagnosed with Cockayne syndrome.
- Further research is warranted to elucidate the mechanisms linking CS and aortic dilatation.
Related Concept Videos
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests
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...
01:30Aneurysm I: Introduction
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...
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
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...
01:30Cardiomyopathy II: Dilated Cardiomyopathy
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:15Aortic Regurgitation I: Introduction
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...