Station 5: BRIEF CLINICAL CONSULTATION
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.
- Respiratory rate / minute 16
- Pulse rate / minute 64
- Systolic blood pressure (mmHg) 126
- Diastolic blood pressure (mmHg) 70
- Oxygen saturations (%) 98
- Temperature (॰C) 36.7
Your task is to:
- Make an assessment of the patient’s referring problem via a focused clinical history and associated focused clinical examination. You do not need to finish the history prior to your physical examination
- Make a diagnosis or differential diagnosis and explain this to the patient as well as your investigative and management plan
- Address any queries or concerns the patient may have.
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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Gold standard case presentation
Diagnosis and Clinical signs:
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):
- Wrist and thumb sign
- Plain flat foot
- Spontaneous pneumothorax
- Facial features (long face, high arched palate and lens dislocation on slit lamp)
- Mitral valve prolapse
The 2010 Ghent nosology is divided into whether there is a positive or negative family history. If there is a negative family history:
- Aortic root dilatation Z score ≥ 2 AND ectopia lentis
- Aortic root dilatation Z score ≥ 2 AND gene (FBN1) positive
- Aortic root dilatation Z score ≥ 2 AND score ≥ 7
- Ectopia lentis AND gene (FBN1) positive AND aortic root dilatation
If there is a positive family history:
- Ectopia lentis AND positive family history
- Score ≥ 7 AND positive family history
- Aortic root dilatation Z score ≥ 2 (> 20-years) or ≥ 3 (< 20-years) AND positive family history
Organ involvement in Marfan’s syndrome
- Disproportionately long limbs (including the fingers and toes) with a decreased upper-to-lower body segment ratio
- High arched palate
- Pectus excavatum or pectus carinatum
- Striae of the skin
- Herniae of the femoral or inguinal regions
- Reduced subcutaneous fat
Ocular (often mild and sometimes only detectable under slit lamp examination)
- Ectopia lentis
- Iridodonesis (iris tremor
- Coarctation of the aorta or dilation of the aortic root which leads to aortic regurgitation (with associated collapsing pulse)
- Aneurysm or dissection of the aorta
- Mitral valve prolapse
- Spontaneous pneumothorax
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).
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Question 1 of 7
1. Question1 point(s)
What word describes the clinical sign of abnormally long fingers and toes?CorrectIncorrect
Question 2 of 7
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What sign can be seen in this patient’s mouth?CorrectIncorrect
Question 3 of 7
3. Question1 point(s)
What is the diagnosis?
Question 4 of 7
4. Question1 point(s)
This patient complains of a sudden deterioration in his vision. What condition is associated with Marfan’s syndrome which could account for this?CorrectIncorrect
Question 5 of 7
5. Question1 point(s)
What is the name of the protein which is mutated in Marfan’s syndrome?CorrectIncorrect
Question 6 of 7
6. Question1 point(s)
Which of the following cardiac conditions is associated with Marfan’s syndrome?CorrectIncorrect
Question 7 of 7
7. Question1 point(s)
What other cardiac pathology is associated with Marfan’s syndrome?CorrectIncorrect