Marfan's Syndrome

 

Thank you for asking me to perform a cardiovascular of examine Mr. X.

 

The salient findings on examinations were a descrescendo early diastolic murmur loudest at the left sternal edge in the 3rd and 4th intercostal space, which increased on expiration, and was associated with a wide pulse pressure, which I believe is consistent with aortic regurgitation. This was associated with a Marfanoid habitus, suggesting this may be secondary to Marfan’s syndrome.

 

I will now present my findings in full before commenting on differentials, aetiology, severity and complications.

 

The patient was comfortable at rest with normal/increased WOB.

 

The patient was tall with disproportionately long thin limbs compared with the trunk. There was a long, narrow face. There was kyphoscoliosis. There was pes planus. The thumb and wrist signs were positive, suggesting arachnodactyly.

 

On examination of the hands, there was/was no stigmata of IE, clubbing, peripheral cyanosis, or xanthomata.

 

The pulse was ____ and regular/irregular (if irregular, consistent with atrial fibrillation).

 

The blood pressure was ____, with/without a wide pulse pressure (wide if severe).

 

On examination of the face, there was blue sclerae and heterochromia of the eyes. There was iridodonesis (https://www.youtube.com/watch?v=wECeA45rx7M)  suggesting lens dislocation. There was/was not scleral icterus, or conjunctival pallor.

 

There was a high arched palate. There was no central cyanosis. Dentition was adequate/inadequate.

 

The JVP was/was not elevated at ___ cm above the sternal notch with normal waveforms/prominent A-wave/prominent V-wave.

 

The carotid pulse was collapsing in character with prominent pulsations.

 

On inspection of the praecordium, there were/were not scars. There was pectus carinatum or excavatum.

 

On palpation, the apex beat was fifth intercostal space mid-clavicular line / displaced and volume loaded (diastolic and hyperkinetic - forceful but unsustained). There were/were not any palpable thrills. There was/was not a left parasternal heave.

 

On auscultation, as aforementioned, there was a decrescendo early diastolic murmur loudest in the third and fourth intercostal space, which increased on expiration. (If nil radiation, state there was no radiation to the axilla or carotids). It was accentuated on sitting forward. There was/was not an associated systolic murmur, which may represent concominant aortic stenosis, or a flow murmur.

 

There was a normal first and normal/soft second heart sound (soft A2 if severe), with physiological/fixed/reversed splitting, with no additional third or fourth heart sound/third/fourth heart sound (additional third heart sound if severe).

 

On further examination, there was/was not evidence of left and right heart decompensation with sacral oedema or peripheral oedema, and vesicular breath sounds/bibasal inspiratory crackles. There was/was not a pulsatile liver, and nil gross ascites.

 

In summary, my findings are consistent with aortic regurgitation, likely secondary to Marfan’s syndrome.

 

In terms of severity:

• In terms of signs of severity, there was/was not a collapsing pulse, a wide pulse pressure, prolonged length of decrescendo murmur, a third heart sound, a soft aortic component of the second heart sound, or evidence of left ventricular failure.

 

Other differentials for the murmur include:

• Pulmonary regurgitation

• Mitral stenosis

 

Other differentials for the Marfanoid habitus include:

• Homocystinuria shares the skeletal and ocular features, however this is not associated with valvular heart disease.

 

I would proceed from here by:

• Confirming my diagnosis with an echocardiogram

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