Pulmonary involvement in patients with Marfan Syndrome

Abstract

Aim: Pulmonary involvement is not generally considered a main feature of Marfan syndrome, an autosomal connective tissue disorder caused by mutations in fibrillin 1. Thanks to the substantial progress in treatments, life expectation of these patients has been dramatically improved determining changes in different organ systems. The number of patients with pulmonary pathology may be higher than expected. Objective of the study was to evaluate the pulmonary involvement in all the patients referring to the largest Italian center for Marfan syndrome, assessing clinical examination and lung function tests.

Methods: Clinical history, spirometry, lung volumes and diffusing capacity have been assessed in 64 patients of our national referral center.

Results: None of the patients reported chronic respiratory symptoms. Fourteen percent reported a previous pneumothorax and 3 blebs and 45% had moderate to severe rib cage abnormalities. Twenty-three percent had cardiothoracic surgery. Two of the 19 patients with chest TC performed at our hospital were diagnosed with emphysema and were both non smoker; 7 had subpleural apical blebs. Only 37% of patients had normal lung function; 19% showed a restrictive pattern and 44% an obstructive pattern or an isolated diffusion impairment or an isolated hyperinflation. All patients with pneumothorax showed an obstructive pattern and diffusion impairment.

Conclusion: In the absence of early respiratory symptoms, pulmonary abnormalities should be detected and monitored before they aggravate. Particular attention should be paid to prevent pneumothorax. Our results support the importance of lung volume determination to identify patients in which pulmonary parenchyma require a careful chest CT evaluation.