This content is machine translated Rare diseases: Marfan syndrome 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...…
View Post 8 min This content is machine translated Systemic diseases and the eye Congenital diseases with eye involvement Congenital syndromes may show ocular involvement. These include Down syndrome, Marfan syndrome, myotonic dystrophies, metabolic diseases with lysosomal storage disorders, and neurofibromatosis. The ophthalmological examination is of great relevance, on… CME-Test
View Post 10 min This content is machine translated Update Cardiogenetics Current advances and limitations in cardiovascular genetics. Genetic testing now enables diagnoses that could not be made in the past. However, it depends on the method, which significance is behind the results.
View Post 7 min This content is machine translated Marfan syndrome and related connective tissue diseases How is long-term cardiovascular care provided to patients? Surgical treatment of patients with hereditary connective tissue disease aims to prevent aortic dissection. This is because it is responsible for the high mortality rate of the patient population. When…
View Post 7 min This content is machine translated Dynamic compression system for keel chest A novel conservative treatment method for children and adolescents The keel breast (chicken breast, lat. Pectus carinatum [PC]) is the second most common congenital deformity of the anterior thoracic wall in children and adolescents after funnel chest. It is…
