Individuals with Marfan’s syndrome have a mutation in the FBN1 gene which codes for an extracellular matrix protein called fibrillin-1. This mutation results in unstable integrity of various connective tissues of the body. Whilst the vast majority of cases are familial and inherited in an autosomal dominant manner, approximately 25% of cases arise sporadically.
Patients can have a ‘Marfanoid habitus’ with specific physical features that point towards Marfan’s syndrome. The limbs are also often elongated so patients can have long arms, legs and fingers, known as arachnodactyly. Other associated features include scoliosis, pes planus (flat feet), skin striae, cataracts, glaucoma and myopia. Ectopia lentis can also occur as part of Marfan’s – this is where there is a dislocation of the lens in the eye. Symptoms of a lens dislocation include astigmatism, blurred vision and myopia.
The most serious complications of Marfan’s are related to cardiology, in particular:
Clinical features and a family history are important in the diagnosis, and the diagnosis is largely clinical, but it can be confirmed through genetic testing. Echocardiogram can be used to investigate any heart murmurs that arise as a result of valvular regurgitation, as well as visualisation of the aortic root. As Marfan’s also affects the eyes, a slit-lamp examination can also be useful in order to investigate any ocular symptoms.
Beta-blockers are usually prescribed as they can slow the dilatation of the aortic root. Patients do require regular monitoring of the aorta, and surgical intervention may be needed if there is significant aortic root dilatation.
https://www.hypermobility.org/marfan-syndrome-joints-bones-and-the-marfanoid-habitus
https://ghr.nlm.nih.gov/condition/marfan-syndrome#genes
