Related Experiment Video
Updated: Aug 6, 2026
09:05
Assessment of Cardiac Morphological and Functional Changes in Mouse Model of Transverse Aortic Constriction by Echocardiographic Imaging
Published on: June 21, 2016
Sex-Specific Cardiovascular Phenotypes in Marfan Syndrome
Luke Dreher1, Hussein Abdul Nabi1, Hunter B VanDolah1
1Department of Cardiovascular Medicine, Mayo Clinic Arizona, USA.
JACC. Advances
|July 20, 2026
Summary
Men with Marfan syndrome (MFS) experience a greater burden of aneurysmal disease and arrhythmias compared to women. However, the prevalence of aortic dissection remains similar between sexes in this MFS cohort.
Area of Science:
- Cardiology
- Genetics
- Vascular Medicine
Background:
- Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, primarily impacting the cardiovascular system.
- Sex-based differences in vascular and rhythm complications of MFS are not fully understood.
Purpose of the Study:
- To compare aneurysm prevalence, dissection risk, arrhythmias, valvular issues, and cardiovascular interventions between men and women with Marfan syndrome.
- To identify sex-specific patterns in cardiovascular manifestations of MFS.
Main Methods:
- A retrospective cohort study of 783 adults with confirmed Marfan syndrome (MFS) from 2018-2024.
- Manual review of medical charts and imaging reports to confirm diagnoses and vascular outcomes.
- Multivariable logistic regression analysis adjusted for key comorbidities to assess sex-based associations.
Main Results:
- Men with MFS had significantly higher rates of ascending aortic aneurysms, overall aneurysms, and extra-aortic aneurysms compared to women.
- Prevalence of aortic dissection was similar between sexes.
- Men experienced more atrial fibrillation, atrial flutter, sustained ventricular tachycardia, and aortic root surgeries; women had higher rates of mitral valve prolapse.
Conclusions:
- Men with Marfan syndrome exhibit a greater aneurysmal burden, increased atrial arrhythmias, sustained ventricular tachycardia, and undergo more aortic interventions.
- Aortic dissection prevalence is comparable between sexes in Marfan syndrome patients.
Related Concept Videos
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...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:27Specialized Characteristics of Cardiac Muscles
The primary role of cardiac muscles is to propel blood throughout the cardiovascular system. The cardiac muscle cells, or cardiomyocytes, exhibit specialized characteristics that allow them to perform this function.
Cardiac muscle cells are smaller than skeletal muscles, averaging 10–20 mm in diameter and 50–100 mm in length. However, they have large energy demands for continuous contraction and relaxation. This energy is almost exclusively derived from aerobic metabolism of energy reserves in...
Cardiac muscle cells are smaller than skeletal muscles, averaging 10–20 mm in diameter and 50–100 mm in length. However, they have large energy demands for continuous contraction and relaxation. This energy is almost exclusively derived from aerobic metabolism of energy reserves in...
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...
01:35Pedigree Analysis
Overview