The Marfan syndrome: abnormal aortic elastic properties

Area of Science:

• Cardiovascular Medicine
• Genetics
• Biomedical Engineering

Background:

• Marfan syndrome is a genetic disorder affecting connective tissue, often leading to aortic complications.
• Aortic abnormalities in Marfan syndrome can include dilation and dissection, necessitating understanding of elastic properties.

Purpose of the Study:

• To investigate and compare aortic distensibility and stiffness index in patients with Marfan syndrome versus healthy controls.
• To determine if aortic elastic properties are intrinsically abnormal in Marfan syndrome, independent of aortic diameter.

Main Methods:

• Echocardiography was used to measure changes in aortic diameter and pulse pressure in the ascending and abdominal aorta.
• Aortic distensibility and aortic stiffness index were calculated using established formulas.
• Pulse wave velocity was also measured in both patient and control groups.

Main Results:

• Patients with Marfan syndrome showed significantly decreased aortic distensibility in both ascending and abdominal aorta compared to controls.
• Aortic stiffness index was significantly increased in both aortic segments in Marfan syndrome patients.
• Pulse wave velocity was higher in Marfan syndrome patients, and strong correlations were found between ascending and abdominal aortic elastic properties.

Conclusions:

• Aortic elastic properties are demonstrably abnormal in Marfan syndrome, suggesting an intrinsic defect in the aortic arterial wall.
• These elastic property abnormalities are present regardless of aortic diameter, highlighting a fundamental issue in the connective tissue of the aorta.
• The findings underscore the importance of evaluating aortic elastic function in the management of Marfan syndrome.