A patient with Marfan syndrome in a general practitioner’s office

Abstract

Marfan syndrome is a disorder of the connective tissue (fibrillins and elastins). It is an autosomal dominant disease associated with a defect of chromosome 15 which encodes fibrillin-1. The syndrome is characterised by a varying extent of connective tissue disorders. A mutation in the gene encoding connective tissue can be manifested in all organs irrespective of the patient’s age. This disorder is characterised by multiple symptoms manifested mainly in the cardiovascular and skeletal systems as well as in the organ of vision. Ghent criteria are commonly recognised in the diagnosis of Marfan syndrome. Moreover, clinical symptoms reported by patients should also be considered. Patients presenting at the office of a general practitioner with symptoms resembling Marfan-like syndromes should undergo a detailed medical interview for the presence of cardiovascular diseases in the family. A general practitioner should examine the patient, drawing particular attention to organs that are frequently affected by disorders of connective tissue encoding (chest, oral cavity and general body stature). The family of a patient with Marfan syndrome should be referred to a genetic clinic to conduct tests for the presence of gene mutation. The diagnosis of Marfan syndrome in neonates is complex since not all symptoms of the syndrome are clinically manifested. In female patients with Marfan syndrome, pregnancy is contraindicated if the size of the aorta exceeds 50 mm. In other cases, women must be informed about possible risks and monitored for a change in the width of the aorta. Sometimes, procedures of prophylactic aortic replacement on its entire course are conducted prior to a planned pregnancy. Regular echocardiographic check-ups (every 4–7 weeks) as well as cooperation of a gynaecologist and cardiologist are necessary. A general practitioner should inform the patient’s family about any sudden conditions that can develop in the course of Marfan syndrome (aortic dissection) and explain to them the algorithms of management (immediate call for an ambulance).

Keywords

• Marfan syndrome
• symptoms
• general practitioner
• diagnosis