Hereditary connective tissue disease with a vascular component

Even though targeted genetic tests are now available, the diagnosis of Marfan syndrome is still mainly based on specific clinical criteria, in particular the revised Ghent classification. The broad phenotypic continuum ranges from mild manifestations to severe and rapidly progressive neonatal multi-organ disease. Timely diagnosis is of crucial importance in order to provide those affected with adequate treatment measures. A multidisciplinary approach is advocated for this.