Conditions
Marfan syndrome
A genetic condition of connective tissue that can affect the aorta, the eyes, and the bones and joints.
About Marfan syndrome
Marfan syndrome is a genetic condition that affects connective tissue. Connective tissue is the material that supports and holds the body together. Marfan syndrome comes from a change in a gene called FBN1. It can affect the heart and blood vessels, the eyes, and the bones and joints.
Doctors pay close attention to the aorta, the large artery that carries blood out of the heart, because it can widen over time. The lens inside the eye can also shift out of place. Other signs can include a breastbone that sinks in or sticks out, a curved spine, flat feet, long fingers, stretch marks in unusual places and a collapsed lung.
Common tests include an ultrasound of the heart (echocardiogram), an eye exam with drops to widen the pupils, a check of the spine, chest and joints, and a genetic test. Some people also get a CT or MRI scan. A few other conditions look similar, so clinicians check for those too.
Who usually evaluates it: Often a clinical geneticist or genetic counselor, working with a heart doctor (cardiologist) and an eye doctor (ophthalmologist).
What you can record in Selihc Health
- Past heart ultrasound, blood vessel scan and eye exam reports, and what they mention
- Genetic test reports and the genes they name
- Your own checks of your wrists, thumbs, chest, elbows and build, labeled as self-reported
- A collapsed lung, a curved spine, flat feet or stretch marks, with photos where they help
- Relatives with Marfan syndrome or with aorta or artery problems
What only a clinician can do
- Measuring the aorta and deciding what the measurement means
- A dilated eye exam to look at the lens
- Examining the chest, spine, feet, hands, face and body proportions
- Deciding what a genetic test result means
- Checking for conditions that look similar, such as Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome
In an emergency
Call 911 right away for sudden, severe pain in the chest, back, belly or neck, especially pain that feels sharp, tearing or ripping, or that moves. Also call 911 for fainting, sudden trouble breathing, or signs of a stroke such as a drooping face, a weak arm or trouble speaking. Do not drive yourself.
Call 911 right away for signs of a stroke: a drooping face, a weak or numb arm or leg, especially on one side, sudden trouble speaking or understanding, sudden trouble seeing, sudden trouble walking or loss of balance, or a sudden, very bad headache with no known cause.
Call 911 right away for sudden shortness of breath, or sharp chest pain that gets worse with a deep breath. This can be a collapsed lung. Do not drive yourself.
Call an eye doctor right away, or go to an emergency room, for sudden flashes of light, a shower of new floaters, or a shadow or curtain over part of your vision.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Marfan syndrome: revised Ghent nosology (2010)
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476-485. doi:10.1136/jmg.2009.072785
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This page is general information written for patients, not medical advice. Content is a draft awaiting clinical review.
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