The Marfan syndrome (MS) is a heritable autosomal dominant disorder of connective tissue, due to the fibrillin gene mutations, essential component of elastic fibers. Cardiovascular, skeletal and ocular anomalies are the most common clinical manifestations. There is extensive clinical overlap in this syndrome because its association with 50 types of mutations in TGFBR1 and TGFBR2 on 15 chromosomes. Retrospective study of clinical evaluation, surgical treatment and survival of 106 children, from 1993-2008 years.
Material and methods. 106 children with MS according to the Ghent Criteria were studied. Initial symptoms echocardiogram, medical and surgical treatment and survival were investigated.
Results. 52% female with mean age of 8.5 ± 5 years. Inicial manifestations: blurred vision 31%, families with MS 12%, heart murmur 8%, dyspnea 7%, feet malformations 6%, thoracic pain 5%, aneurysms 5%, pre-syncope 4%, aortic abnormalities 3%, hernia 3 %, arrhythmia 1%, scoliosis 1%. Major musculoskeletal criteria 88%, minor 76%, major ocular criteria 70%, minor 11%, major cardiovascular criteria 59%, minor 68%, dural ectasia 53%. Only minor criteria: respiratory 9%, skin 69%. The one year survival with cardiovascular complications and surgical treatment is of 80%, which decreased to 50% in 5 years with medical treatment; when the patients go to surgery the survival increased to 20 years in 20% of cases. Only a 5% of patients without surgery reached 15 years survival.
Conclusions. The survival is not compromised by the musculoskeletal manifestations. There are precise surgical indications in cardiovascular complications, which performed in time, decreased the morbidity and mortality