Related Experiment Video

Updated: Nov 8, 2025

Measurement of Endothelium-Dependent Vasorelaxation in the Mouse Thoracic Aorta Using Tensometric Small Volume Chamber Myography
09:47

Measurement of Endothelium-Dependent Vasorelaxation in the Mouse Thoracic Aorta Using Tensometric Small Volume Chamber Myography

Published on: August 12, 2022

3.5K

Non-aortic cardiovascular disease in Marfan syndrome: a nationwide epidemiological study

Niels H Andersen1, Kristian A Groth2, Agnethe Berglund3,4

  • 1Department of Cardiology, Aalborg University Hospital, Hobrovej 18-22, 9000, Aalborg, Denmark. dr.holmark@gmail.com.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|April 22, 2021
PubMed
Abstract

Insights

Patients with Marfan syndrome (MFS) experience a high burden of non-aortic cardiovascular diseases, with varying prevalence in men and women. Early awareness and monitoring are crucial for managing this diverse range of heart conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Marfan syndrome (MFS) is a genetic disorder affecting connective tissue.
  • While aortic disease is well-known in MFS, other cardiovascular complications are significant burdens.

Purpose of the Study:

  • To assess the prevalence and spectrum of non-aortic cardiovascular diseases in patients with Marfan syndrome.
  • To investigate differences in cardiovascular disease occurrence between men and women with MFS.

Main Methods:

  • A registry-based population study comparing 407 MFS patients with 40,700 controls.
  • Ghent II verified MFS diagnosis and matched controls for age and sex.
  • Follow-up period from 1977 to 2014, totaling 16,439 person-years.

Main Results:

  • Mitral valve disease was significantly more common in MFS patients (HR: 58.9), occurring earlier in women.
  • Heart failure/cardiomyopathy was also more prevalent in MFS (HR: 8.7), affecting younger men more.
  • Increased risks of atrioventricular block, supraventricular and ventricular tachycardia, and sudden cardiac death were observed in MFS patients.

Conclusions:

  • Non-aortic cardiovascular diseases are exceptionally prevalent in Marfan syndrome.
  • The spectrum of these cardiovascular conditions differs significantly between men and women with MFS.
  • Physicians must maintain a high index of suspicion for a wide range of cardiovascular issues in MFS patients.
Keywords:
CardiomyopathyEpidemiologyGenetic disordersHeart failureValve disease

More Related Videos

Precision Ultrasound-guided Stem Cell Delivery for Vascular Repair in Aortic Diseases04:59

Precision Ultrasound-guided Stem Cell Delivery for Vascular Repair in Aortic Diseases

Published on: June 20, 2025

498
Murine Model of Thoracic Aortic Dissection Induced by Oral β-Aminopropionitrile and Subcutaneous Angiotensin II Infusion05:31

Murine Model of Thoracic Aortic Dissection Induced by Oral β-Aminopropionitrile and Subcutaneous Angiotensin II Infusion

Published on: May 16, 2025

483

Related Concept Videos

Aneurysm I: Introduction01:30

Aneurysm 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...
101
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy 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...
119
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm 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...
64
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic 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...
153
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
194
Coronary Artery Disease II: Pathophysiology01:26

Coronary Artery Disease II: Pathophysiology

Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
152