Examination of a case of suspected Marfan syndrome

Abstract

Marfan syndrome is a heritable disorder affecting approximately 1 in 5000 of the UK population. The condition is a multisystem disorder principally affecting the ocular, skeletal and cardiovascular systems. The clinical variability and similarity with other heritable disorders makes Marfan syndrome difficult to diagnose and the condition may not be evident until the patient becomes symptomatic. This article provides an overview of the condition and the case study aims to illustrate how the use of physical assessment and cardiac auscultation can lead to suspicion of Marfan syndrome. In this case, the patient did not meet all of the criteria but had many of the traits. This highlights the importance of comprehensive history taking, management of symptoms and follow up of patients and their families.