Hello and welcome to the Zero to Finals podcast.

My name is Tom and in this episode I'm going to be talking to you about Marfan syndrome.

And if you want to follow along with written notes on this topic,

you can follow along at zero definals.com slash Marfan or in the genetic condition section

of the Zero to Fininals pediatrics book.

So let's get straight into it.

Marfan syndrome is an autosomal dominant genetic condition affecting the gene responsible for creating

fibrylin.

Fibrillin is an important component of connective tissue.

This means people with Marfan syndrome have features resulting from abnormal connective tissue.

So what are those features?

Patients will have a tall stature, long neck, long limbs, long fingers, which we call arachnodactyl, high archpallet, hypermobility,

pectus caranatum or pectus excavatum, and downward sloping palpable fishes.

There are two tests that are worth remembering for arachnodactyl.

First, ask the patient to cross their thumb across their palm,

and if the thumb tip hangs over the opposite edge of the hand, this indicates arachnidactyl.

Secondly, ask them to wrap their thumb and fingers of one hand around the opposite wrist,

and if the thumb and the fingers overlap, this also indicates arachnidactylie.

Here's a tom tip for you.

Marfan syndrome is a favourite for oski exams.

If you meet a patient in your oskies that appears tall, has

hypermobility, or a murmur suggestive of mitral or aortic regurgitation, think of Marfan

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