Abstract
IntroductionMarfan syndrome is a genetic disorder affecting the connective tissue. Changes in lung tissue might influence respiratory function; however, a detailed respiratory functional assessment according to the need for major thoracic surgery is missing.MethodsComprehensive pulmonary examinations were performed in 55 Marfan patients including respiratory symptoms, lung function (LF) testing using European Coal and Steel Community (ECSC) reference values, TLCO and quality of life measurements. Groups included patients who did not need surgery (Mf, n = 32) and those who underwent major thoracic surgery (Mfop, n = 23).ResultsRespiratory symptoms affected 20% of patients. Scoliosis was significantly more frequent in the Mfop group. LF demonstrated in all Marfan patients a tendency towards airway obstruction (FEV1/FVC = 0.77 ± 0.10), more prominent in Mfop patients (0.74 ± 0.08 vs. Mf: 0.80 ± 0.11; p = 0.03). Correction of LF values using a standing height modification by arm span (Hcorrected) revealed additional changes in FVC and FEV1. TLCO and quality of life did not differ between groups.ConclusionsMarfan syndrome is associated with airway obstruction, especially in patients who have undergone major thoracic surgery, indicative of more severe connective tissue malfunction. The use of arm span for height correction is suitable to evaluate LF changes in this special patient group including patients with significant scoliosis.
Highlights
Marfan syndrome is a genetic disorder affecting the connective tissue
Height correction resulted in significantly lower values in Mf patients; this difference was only observed in men
Our study is the largest cohort of Marfan patients who were serially assessed for pulmonary involvement
Summary
Marfan syndrome is a genetic disorder affecting the connective tissue. Changes in lung tissue might influence respiratory function; a detailed respiratory functional assessment according to the need for major thoracic surgery is missing. Groups included patients who did not need surgery (Mf, n = 32) and those who underwent major thoracic surgery (Mfop, n = 23). Conclusions Marfan syndrome is associated with airway obstruction, especially in patients who have undergone major thoracic surgery, indicative of more severe connective tissue malfunction. The use of arm span for height correction is suitable to evaluate LF changes in this special patient group including patients with significant scoliosis. The prevalence of Marfan disease is about 0.2 ‰ [7] Since this condition is the consequence of connective tissue weakness, it has diverse symptoms. In 2010, a revision of the criteria abolished major and minor criteria and emphasised the value of genetic
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