Symptoms and Diagnosis
At the bottom of the page, you'll find a glossary where highlighted words are explained in more detail.
Symptoms
A person’s experience with Marfan syndrome may differ slightly and features may differ. The syndrome has varying amounts of impact on different parts of the body. Certain features, however, are easier to see than others:
- Tall and slender build
- Disproportionately long arms, legs and fingers
- Pectus carinatum or pectus excavatum
- Crowded teeth
- Heart murmurs
- Scoliosis
- Flat feet
- Stretch marks unrelated to weight gain or loss
Other symptoms may require screening techniques for detection, as Marfan syndrome affects the cardiovascular system, and particularly the aorta, the heart’s output pipeline to the whole body. [1,2,4]
Marfan patients may experience severe and life-threatening conditions such as aortic aneurysm, which can ultimately lead to dissection, and mitral valve prolapse. Pulmonary manifestations also include spontaneous pneumothorax, potential obstructive sleep apnea and COPD. Additionally, eye problems are also found, including severe myopia (nearsightedness), dislocated lens, detached retina, early glaucoma and early cataracts. [3]
Diagnosis Options
On the right there is an overview of tests that are used to diagnose Marfan syndrome.
Echocardiogram
An “echo” uses sound waves to create a live image of your heart, allowing the physician to check the size of your aorta and monitor the structure of the heart
Electrocardiogram
A quick test which records the electrical activity of your heart. It Involves small, flat metal discs called electrodes on your chest, arms and legs and It can help identify arrhythmias, commonly seen in Marfan patients
Eye examination
This exam may include tests to measure the shape of the eye and check for ectopia lentis. Commonly this includes a slit lamp, essentially a microscope with a bright light which allows examining structures at the front of the eye. Ophtalmoscopy is used to assess the health of the retina.
Genetic testing
Genetic testing may help confirm a diagnosis in an ambiguous case, and can provide valuable information for familial planning. This method of diagnosis has its own dedicated section, accessible here
In Depth: Genetic testing
Before reading this section, we recommend the educational video in the introduction page.
The FBN1 gene is the primary gene of interest when testing for Marfan syndrome. FBN1 encodes a protein called fibrillin-1, indispensable for the structure and function of connective tissue in the body.
When should I consider testing?
A genetic counsellor is best suited to discuss this with you. Genetic testing often not only confirms the specific diagnosis but also may have a significant impact on your medical treatment, changing the timing of life-saving aortic surgery. Studies show that clinical evaluation in combination with genetic testing is far superior than evaluation alone.
How does genetic testing work?
Sample collection
Typically involves a quick blood draw or cheek swab. The sample is sent to a laboratory specialized in genetic diagnosis. In Marfan syndrome, DNA extraction typically involves fibroblasts or a blood draw. [6]
DNA analysis
DNA contains the blueprint of all proteins in the body, including fibrillin-1 and therefore the FBN1 gene. A gene is built of nucleotides and requires the specific sequence to be correct respective to that protein. By means of DNA sequencing, which essentially reads the genetic code of FBN1, we can identify any mutations or changes in nucleotides.
Sometimes, no mutations are found even though the patient display clinical features. In this case, a whole part of the gene could be missing, indicating a deletion. Further testing is typically required.
Results interpretation
A geneticist or genetic counselor will assess the results. Not all genetic changes are harmful, and not all harmful changes cause Marfan syndrome.
What is the role of genetic counseling? [7]
Genetic counseling is a service provided by trained professionals who help you understand and adapt to information about your genetic makeup. A genetic counselor supports you in dealing with the emotional and social impacts of genetic information, explains how it might affect your family, and helps you make informed decisions about your health and future.
Want to know more?
Check out the concept list!
Pectus carinatum | The breast bone sticks out more than usual
Pectus excavatum | The breastbone is sunken into the chest
Aortic aneurysm | A bulge in the wall of the largest blood vessel (aorta)
Dissection | A tear in the inner layer of the a blood vessel wall, causing blood to flow
between layers and separate them.
Mitral valve prolapse | The valve between the heart’s left upper and lower chambers doesn’t close properly
Heart murmurs | Unusual sounds made by blood moving through the heart, typically examined using a stethoscope
Scoliosis | The spine curves sideways like an S
Pneumothorax | A collapsed lung due to air leaking into the space between the lung and the chest wall
Obstructive sleep apnea | Sleep disorder where breathing repeatedly stops and starts due to blocked airways
COPD | Chronic Obstructive Pulmonary Disease; lung disease which blocks airflow and makes it hard to breathe
Myopia | Nearsightedness; objects close to you are clear, but objects farther away seem blurry
Dislocated lens | The lens in your eye moves out of its normal position
Echocardiogram | An “echo” uses sound waves to create a live image of your heart. This allows the physician to check the size of your aorta and whether it's enlarged.
Additionally, it allows monitoring the structure of the heart and how well it’s working.
Electrocardiogram | A quick test which records the electrical activity of your heart. It Involves small, flat metal discs called electrodes on your chest, arms and legs and It can help identify arrhythmias, commonly seen in Marfan patients
Eye examination | This exam may include tests to measure the shape of the eye and check for ectopia lentis. Commonly this includes a slit lamp, essentially a microscope with a bright light which allows examining structures at the front of the eye. Ophtalmoscopy is used to assess the health of the retina.
Genetic testing | Genetic testing may help confirm a diagnosis in an ambiguous case, and can provide valuable information for familial planning. This method of diagnosis has its own dedicated section, accessible here
Glaucoma | Eye condition that damages the optic nerve, often due to high eye pressure leading to vision loss
Detached retina | The thin layer at the back of your eye (retina) pulls away from its normal position
Cataracts | Clouding of the lens in your eye, leading to blurry vision
Connective tissue | Tissue that supports, binds or separates other tissues and organs in your body
DNA sequencing | The process of determining the exact order of the building blocks (nucleotides) in a strand of DNA
Mutations | Changes in DNA sequence that can sometimes cause disease
Nucleotides | The building blocks of DNA and RNA, which carry genetic information in cells. Instructions on how, which and how many proteins of a kind need to be produced.
Fibroblast | A type of cell which helps build and repair tissue. It makes collagen and other fibers that give strength and support to your skin and other parts of your body.
Are you curious about the scientific publications used to write this article? Check out the references!
1. Marfan syndrome. Mayo Clinic. 2024 [cited 2024 Apr 30]. Available from: https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782
2. The Marfan Foundation [Internet]. Marfan Foundation. 2020 [cited 2024 Apr 30]. Available from: https://marfan.org/
3. Zeigler SM, Sloan B, Jones JA. Pathophysiology and Pathogenesis of Marfan Syndrome. In: Advances in Experimental Medicine and Biology. Cham: Springer International Publishing; 2021. p. 185–206.
4. Marfan syndrome [Internet]. Hopkinsmedicine.org. 2021 [cited 2024 Apr 30]. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/marfan-syndrome
5. Grahame R. Heritable disorders of connective tissue. Br Med Bull. 1988;44(4):901-16. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1729812/pdf/v086p00012.pdf
6. Glaus L, Boes S, Brodmann MA, Kocher T, Löffel LM, Kohler D, et al. Factors influencing Covid-19 vaccine acceptance in Switzerland: a mixed-methods analysis. Swiss Med Wkly. 2021;151 Available from: https://smw.ch/index.php/smw/article/view/2750/4426
7. Marsland AL, Kuan DC-H, Sheu LK, Krajina K, Kraynak TE, Manuck SB, et al. Systemic inflammation and resting state connectivity of the default mode network. Brain Behav Immun. 2017;62:162-70. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998955/