Term
| Presenting this patient with Marfan's and valve replacement |
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Definition
This is a middle aged man with evidence of AV replacement and Marfan syndrome
He has arachnodactyly and hypermobile joints
He also has finger clubbing and a high arched palate
He has a mildly collapsing pulse and his JVP is normal
He has a metallic second heart sound, loud systolic murmur which does not radiate to the carotids but is heard loudest in the aortic area.
He does not have evidence of IE or HF
On inspection of the chest, there is a midline sternotomy scar and a very long scar from the abdomen to the posterior thorax.
It is likely that this patient had AR as an indicator of his AV replacement given his background of Marfan syndrome.
It is also possible that since aortic dissection is a known complication of Marfan syndrome and his very long abdomen to the posterior thorax scar is related to aortic surgery.
I would like to further investigate him with a chest xray, ECG and echocardiogram. |
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Term
| how would you manage this patient in the long term? |
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Definition
He would need serial echocardiography to monitor valve function and serial imaging of his aorta to monitor any dilatation there.
He would also need anticoagulation due to the fact he has a metallic valve replacement. |
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Term
| can you tell me about the inheritance of Marfan's and its implications? |
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Definition
It is an AD condition effecting the fibrillin gene on Ch15 which is essential for the formation of elastic fibres found in connective tissue.
In view of the fact that this is an inherited condition, I would consider genetic testing and also family screening. |
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Term
| What are the cardiac features of Marfan's? |
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Definition
Common cardiac complications include aortic root dilation and aortic dilation at any point along its length
Aortic valve regurgitation and MV prolapse |
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Term
| What are the indications for Aortic root replacement in Marfans? |
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Definition
Dilation of >50mm at the aortic root
or
>45mm in patients with FHx of aortic dissection
Also if the aortic root is expanding at a rate of >3mm per year |
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Term
| If this patient was to deteriorate with worsening breathlessness how would you manage him? |
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Definition
I would consider the possible causes for this breathlessness being:
an arrhythmia
lv dysfunction
regurgitant valve or
IE
I would investigate accordingly with ECHO looking for LV function or regurgitant valve and vegetations
Inflammatory markers ESR, WCC in addition to renal function
FBC looking for anaemia which can exacerbate breathlessness.
Chest XR
ECG |
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Term
| How would you evaluate the valve is competent? |
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Definition
A crisp second heart sound.
If the S2 is not crisp or there is the absence of silence in diastole this could signify presence of diastolic murmur in which case an ECHO should be performed looking for evidence of valvular incompetence. |
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