Pulmonary involvement in patients with Marfan Syndrome

Area of Science:

• Pulmonology
• Genetics
• Internal Medicine

Background:

• Marfan syndrome (MFS) is a genetic connective tissue disorder affecting multiple organs.
• Improved life expectancy in MFS patients reveals previously underestimated pulmonary complications.
• Pulmonary involvement in MFS is often overlooked but may be more prevalent than assumed.

Purpose of the Study:

• To investigate the prevalence and characteristics of pulmonary involvement in Marfan syndrome patients.
• To assess clinical and lung function parameters in individuals with MFS.
• To determine the necessity of pulmonary monitoring in Marfan syndrome.

Main Methods:

• Evaluated 64 Marfan syndrome patients at a national referral center.
• Conducted clinical history assessments, spirometry, lung volume, and diffusing capacity tests.
• Utilized chest CT scans for detailed pulmonary parenchyma evaluation in a subset of patients.

Main Results:

• No patients reported chronic respiratory symptoms, but 14% had a history of pneumothorax.
• Significant rib cage abnormalities (45%) and prior cardiothoracic surgery (23%) were noted.
• Pulmonary function tests revealed abnormalities in 63% of patients, including obstructive patterns and diffusion impairment, particularly in those with pneumothorax.

Conclusions:

• Pulmonary abnormalities in Marfan syndrome can be present without early respiratory symptoms.
• Regular lung function monitoring and chest CT evaluation are essential for early detection and management.
• Preventing pneumothorax and monitoring lung parenchyma are critical for Marfan syndrome patient care.