Patient details: James Stanford aged 46-years
Your role: You are the doctor in the General Medical clinic
You have 10-minutes to assess each patient. You will receive a 6-minute warning and you will stopped at 8-minutes. In the final 2-minutes, you will be asked by an Examiner to explain any abnormalities in the focused clinical history and clinical signs you may have found, along with a diagnosis or differential diagnoses and to provide a management plan (if this was not apparent from your consultation).
Clinical problem: this gentleman was referred by his GP after arranging for an echocardiogram after finding a murmur on cardiac auscultation. The echo demonstrates mitral valve prolapse with trivial mitral valve incompetence. The aortic root was mildly dilated at 30mm with no current evidence of aortic valve incompetence. The rest of the echocardiogram was unremarkable.
Your task is to:
Any notes you make prior to entering the examination can be taken with you, but these have to be given to the Examiner prior to leaving the Station.
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This patient has Marfan syndrome, as evidenced by a positive echocardiogram demonstrating aortic root dilatation and mitral valve prolapse. Clinically, he is of tall stature; has an arm span that is wider than he is tall; arachnodactyly in his fingers and toes; a high arched palate and hyper-extension in his hands and wrist. He has a positive family history and a personal history of a pneumothorax and hernia. I would like to arrange baseline blood tests, slit-lamp testing to check for lens dislocation, genetic testing and refer him to Cardiology for further assessment of his valve and aortic abnormalities for possible future surgery.
Marfan’s syndrome is an autosomal dominant genetic disorder of the connective tissue caused by mutation in the Fibrillin-1 (FBN1) gene that encodes for a glycoprotein Fibrillin. This patient does not have all of the clinical features, which is not uncommon, as it is a spectrum. We are unable to demonstrate it here, but he also has mild lens dislocation, detected upon slit lamp examination. In 2010, the formal diagnostic criteria, the Ghent Nosology was revised, you can read more here. This patient scores 8 (with ≥ 7 considered a positive systemic score):
The 2010 Ghent nosology is divided into whether there is a positive or negative family history. If there is a negative family history:
If there is a positive family history:
Ocular (often mild and sometimes only detectable under slit lamp examination)
Conservative: ensuring patient education and support is key along with lifestyle advice. For more information, please visit the Marfan Foundation which has a wealth of resources.
Cardiovascular – beta-blockers are used to retard the aortic fibre degeneration that leads to progressive aortic root dilatation and subsequent aortic valve incompetence and dissection. Ocular – regular ophthalmological assessment to monitor for retinal detachment and myopia is required. Skeletal: arthritis and myalgia are common problems associated with increased laxity of the joints. Avoidance of heavy stress inducing exercise as well as contact sports can help reduce this. Respiratory: if pectus excavatum exists, then there can be subsequent restrictive lung defects and so this must be monitored for. Sports such as scuba diving must be avoided due to the risks of spontaneous pneumothorax.
Cardiothoracic surgery for aortic root dilatation and valve replacement may be required, based upon the size (> 5.5cm for the aortic root).
What word describes the clinical sign of abnormally long fingers and toes?
What sign can be seen in this patient’s mouth?
What is the diagnosis?
This patient complains of a sudden deterioration in his vision. What condition is associated with Marfan’s syndrome which could account for this?
What is the name of the protein which is mutated in Marfan’s syndrome?
Which of the following cardiac conditions is associated with Marfan’s syndrome?
What other cardiac pathology is associated with Marfan’s syndrome?