Respiratory dysfunction in patients with Marfan syndrome

Abstract

Marfan syndrome (MS) is inherited in an autosomal dominant way. MS is characterized by a high degree of penetration and expression of the pathological gene. Fibrillin, the gene product is a protein that acts in the composing of elastic fiber. Therefore, MS syndrome is a multisystem disorder that affects connective tissue. The aim of this paper is to evaluate the frequency of occurrence of factors influencing abnormalities in respiratory tract functioning. The study encompassed 45 patients with MS syndrome ranging in age from 2 to 54. Both clinical examination and morphological measurements were performed in each case. The following anthropometrical measurements were performed: cephalometric and measurements of the chest. All measurements were standardized as mean values for healthy population. Based on the measurements recorded, the following indexes were evaluated: width/length index of the head, morphological index of the face, and index of chest flattening. The occurrence of chest deformities was also evaluated. The study indicate that several factors can result in pulmonary disease in patients with Marfan's syndrome.