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Clin Genet ; 78(1): 57-65, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20370798

RESUMEN

Marfan syndrome (MS) is a dominant autosomal connective tissue disease that impacts multiple systems, such as the cardiovascular system, tissue viscoelastic properties, bone calcification matrix and, most specific to the present investigation, pulmonary parenchyma. The aim of the present study was to evaluate pulmonary function (PF) in patients with MS and relate it to thoracic cage abnormalities (TCA) and the occurrence of cardiac arrhythmias during the spirometric exam (SE). A sample of 75 subjects (46 with MS) underwent clinical, anthropometric, echocardiographic, radiographic and PF evaluation; 51 subjects (33 with MS) had their electrocardiogram (ECG) information evaluated during PF. These individuals were matched and compared with a healthy control group (CG). Forced vital capacity (FVC) and forced expiratory volume (FEV) in the first second (FEV(1)) in the patients with MS were significantly lower in comparison with the CG (p = 0.012 and 0.0006) and predicted values (p = 0.04 and 0.003). Subgroup analysis based on TCA revealed differences between patients with MS with two combined abnormalities (scoliosis + pectus) in comparison with both the CG (p = 0.012 and 0.002) and patients without abnormalities (p = 0.05 and 0.006). There were no differences regarding the occurrence of arrhythmia during exertion on the SE. There was a correlation between clinical history, cardiovascular behavior and PF. PF is reduced in patients with MS, and deformities in the thoracic cage appear to contribute to this reduction. Despite the apparent structural alterations in the cardiovascular system in this population, exertion during the SE appears to be safe.


Asunto(s)
Arritmias Cardíacas/etiología , Sistema Cardiovascular/fisiopatología , Síndrome de Marfan/fisiopatología , Pruebas de Función Respiratoria/efectos adversos , Espirometría/efectos adversos , Adolescente , Estudios de Casos y Controles , Electrocardiografía , Femenino , Humanos , Masculino , Observación , Esfuerzo Físico , Pruebas de Función Respiratoria/métodos , Espirometría/métodos , Adulto Joven
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