Related Experiment Video
Updated: Sep 19, 2025
04:59
Precision Ultrasound-guided Stem Cell Delivery for Vascular Repair in Aortic Diseases
Published on: June 20, 2025
330
Simple Renal Cysts in Marfan Syndrome: Prevalence and Association With Aortic Events
Claire Bouleti1, Noemie Tence2, Raphael Thuillier3
1University of Poitiers, Clinical Investigation Center (INSERM 1402), FACT and Poitiers Hospital, Cardiology Department, Poitiers, France.
JACC. Advances
|June 18, 2025
Summary
Simple renal cysts (SRCs) are more common in Marfan syndrome (MFS) patients. These cysts are independently linked to aortic dissection in individuals with MFS, suggesting a potential marker for aortic disease.
Area of Science:
- Cardiovascular Medicine
- Nephrology
- Genetics
Background:
- Simple renal cysts (SRCs) are linked to aortic aneurysms/dissection in the general population.
- Marfan syndrome (MFS) is associated with severe aortic disease, but SRC data in MFS is limited.
Purpose of the Study:
- To determine SRC prevalence in MFS patients versus controls.
- To investigate the association between SRCs and aortic events in MFS patients.
Main Methods:
- 131 MFS patients with fibrillin-1 gene variants were matched 1:1 for age/sex with controls.
- All participants underwent complete computed tomography scans.
Main Results:
- SRC prevalence was higher in MFS patients (41%) than controls (21%).
- SRC prevalence correlated with aortic disease severity in MFS.
- SRC presence independently predicted aortic dissection in MFS patients (aOR: 2.30).
Conclusions:
- SRCs are significantly more prevalent in MFS patients compared to matched controls.
- SRCs are independently associated with aortic dissection in MFS.
- Further research is needed to confirm SRCs as a marker for aortic disease severity in MFS.
Related Concept Videos
01:30Aneurysm I: Introduction
31
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...
31
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
27
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...
27
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests
59
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...
59
01:25Aortic Regurgitation III: Medical Management
53
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...
53
01:26Aneurysm III: Interprofessional Care
30
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...
30
01:15Aortic Regurgitation I: Introduction
46
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...
46