Complications


At the bottom of the page, you'll find a glossary where highlighted words are explained in more detail .

Introduction

There are multiple possible complications associated with Marfan syndrome. However, it is important to take note that not everyone with Marfan syndrome possesses these complications. Depending on the complication, surgeries or medication might be necessary.

Common Complications

Some common complications may include: [1]

  • Heart disease: This includes aortic aneurysms and problems with the cardiac valves, heart failure, arrhythmia, etc


  • Bone deformities: Scoliosis (having a curved spine) is possible or having a breastbone that is sunken or sticks out.


  • Loose, painful joints 


  • Eye conditions: Blurred vision (cataracts) or loss of sight may follow.
  1. Retinal detachment: where the retina (part that senses light in the back of the eye) peels away from the supporting tissue
  2. Dislocation of the lens: when the lens shift out of place


  • Teeth: They may be crooked or crowded together; dental procedures may be required


  • Lung collapse: May result in breathing difficulties

Aortic Aneurysms

Of all mentioned above, the most common and dreaded complication is an aortic aneurysm and its subsequent dissection. Despite its silent nature (asymptomatic at 95% of the cases), aortic aneurysms can be rapidly lethal once a dissection or rupture occurs. Many fatal TAA ruptures or dissections are often misdiagnosed as myocardial infarctions. 

Familial element [3]:  

21% of patients with TAAs (thoracic aortic aneurysms) have at least one family member with a known aneurysm of some sort; of which 77% were inherited in an autosomal dominant manner. Hence, physicians should encourage the screening of family members of TAA patients.

Susceptibility [4]: 

Certain genes such as FBN-1, TGFB(R), MYH11 and ACTA2 are associated with these aortic aneurysms. Blood biomarkers involved in its formation and progression include elastin degradation, fibrillin fragmentation products desmosine (DES), isodesmosine (ISDES) etc. Hence those with genetic syndromes (i.e. Marfan syndrome (most common), Ehlers-Danlos syndrome, Loeys-Dietz syndrome, and Turner syndrome), which are linked to disorders or malfunctions in these aforementioned genes or biological processes, are at higher risk of developing aortic aneurysms. 

Physical properties [4]: 

The increased wall strain, aortic elongation, loss of natural elasticity, and volume increase are characteristic of this. 

Aneurysms in Marfan patients [5]: 

Once an aneurysm is diagnosed, patients must be monitored carefully. Follow-ups are necessary by echo, CT scan, or MRI (some lesser invasive procedures). Important questions needed to be asked are how fast is the growth process of the aorta and when is it going to rupture. In the case of Marfan patients, where the growth rate is faster, it is often that they must intervene sooner than the official diameter threshold of 5.5 cm.   

Post-Surgical Complications

This would highly depend on the nature of the surgery. Surgeries using the heart-lung machine, for example, may lead to embolisms in the brain or lungs [7], affect the kidneys (renal failure) [8], heart failure [3], but the most severe ones in aortic surgeries could be cerebral disorders [9,10]. Of course, it is also possible to be absent of these more drastic complications. 

Want to know more?

Check out the concept list

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Aortic aneurysms | Enlargement in the wall of the aorta, which can be life-threatening if it ruptures.

Arrhythmia | An arrhythmia, or irregular heartbeat, is a problem with the rate or rhythm of your heartbeat. Your heart may beat too quickly, too slowly, or with an irregular rhythm.

Asymptomatic | (of a condition or person) producing or showing no symptoms.

Autosomal dominant | One of the ways a genetic trait or a genetic condition can be inherited. It is a genetic condition that occurs when a variant is present in only one allele (copy) of a given gene. (As long as you have at least one allele or if both/one of your parents have the condition, you will have it too).

Biomarkers | A biological molecule found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease.

Cataracts | A cataract is a clouding of the lens of the eye, which is typically clear. For people who have cataracts, seeing through cloudy lenses is like looking through a frosty or fogged-up window.

Cerebral disorders | Any disorders of or relating to the brain or the intellect
Complications: a secondary disease or condition aggravating an already existing one.

CT scan (computerised tomography scan) | A medical imaging technique that uses X-rays to make images of the body.

Desmosine (DES) | An amino acid that is found uniquely in elastin; it is a positional isomer that crosslink tropoelastin fibres within elastin. It is a biomarker of elastin degradation.

(aortic) Dissection | Serious condition in which a tear occurs in the inner layer of the body’s aorta.

Echo (echocardiogram) | An ultrasound test that checks the structure and function of your heart; it is a graphic outline of your heart’s movement.

Elasticity | Ability of a deformed material body to return to its original shape and size when the forces causing the deformation are removed.

Elastin | Stretchy protein present in elastic fibres in tissues that require elastic properties.

Embolisms | The lodging of an embolus, a blockage-causing piece of material, inside a blood vessel; may be blocked by blood, fat, air, amniotic fluid, or foreign material.

Fibrillin | The fibrillin protein is a specific protein that is used to built elastic fibres and found in connective tissue.

Gene | A segment of DNA that contains the instructions for building a specific protein;
           ACTA2 | Provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family.
           FBN-1 | The gene with the code for the fibrillin protein.
           MYH11 | Provides instructions for making a protein called smooth muscle myosin heavy chain 11.
           TGFB(R) | A protein that controls various cell processes like growth and repair, playing a role in tissue development.

Heart-lung machine | An apparatus that does the work both of the heart (i.e., pumps blood) and the lungs (i.e., oxygenates the blood) during, for example, open-heart surgery.

Invasive procedures | A medical procedure that invades (enters) the body, usually by cutting or puncturing the skin or by inserting instruments into the body.

Isodesmosine (ISDES) | A lysine derivative found in elastin. It is a biomarker of elastin degradation.

MRI (magnetic resonance imaging) | A medical imaging technique that uses powerful magnets and radio waves to make images of the body.

Myocardial infarctions | Colloquially known as "heart attack," is caused by decreased or complete cessation of blood flow to a portion of the myocardium.

Retinal detachment | A serious eye condition. The retina, the layer of tissue in the back of the eye, pulls away from tissues supporting it. Sudden changes, including eye floaters and flashes and darkening side vision, are signs this may be happening. A detached retina needs treatment as soon as possible.

Scoliosis | A sideways curve of the spine. Everyone has normal curves in the spine, and when looked at from behind, the spine appears straight. However, children and teens with scoliosis have an abnormal S-shaped or C-shaped curve of the spine.

Screening | A medical test or procedure performed on members of an asymptomatic population or population subgroup to assess their likelihood of having a particular disease.

(cardiac/myocardial) Wall strain |  Describes the deformation of the cardiac wall or chamber from a relaxed to a contracted condition more precisely the alteration of length in one dimension or spatial orientation.

Are you curious about the scientific publications used to write this article? Check out the references!

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1.  About Marfan syndrome [Internet]. Centers for Disease Control and Prevention; 2024 [cited 2024 Jun 17]. Available from: https://www.cdc.gov/heart-disease/about/marfan-syndrome.html?CDC_AAref_Val=https%3A%2F%2Fwww.cdc.gov%2Fheartdisease%2Fmarfan_syndrome.htm

2.  Figure 1 

a. Ruth Jessen Hickman M. What should I know about Marfan syndrome? [Internet]. Verywell Health; 2023 [cited 2024 Jun 17]. Available from: https://www.verywellhealth.com/marfan-syndrome-5113945 

b. Surgeon TV. Aortic aneurysms [Internet]. 2023 [cited 2024 Jun 17]. Available from: https://tampavascularsurgeon.com/arterial-disease/aortic-aneurysms/ 

c. Levin S. Important facts about scoliosis you should know Denver [Internet]. 2023 [cited 2024 Jun 17]. Available from: https://posture-works.com/articles/important-facts-about-scoliosis-you-should-know-pw/ 

d. Marfan syndrome [Internet]. 2024 [cited 2024 Jun 17]. Available from: https://www.stelizabeth.com/healthlibrary/Condition/marfan-syndrome 
e. Venza1 N, Danesi1 C, Contò1 D, Fabi2 F, Mampieri1 G, Sangiuolo2 F, et al. Periodontal condition in growing subjects with Marfan Syndrome: A case-control study [Internet]. PeerJ Inc.; 2019 [cited 2024 Jun 17]. Available from: https://peerj.com/articles/6606/ 

f. professional CC medical. Ectopia lentis: What it is, causes & symptoms [Internet]. [cited 2024 Jun 17]. Available from: https://my.clevelandclinic.org/health/diseases/24551-ectopia-lentis 

g. Pneumothorax [Internet]. Wikimedia Foundation; 2024 [cited 2024 Jun 17]. Available from: https://en.wikipedia.org/wiki/Pneumothorax 


3.  Kuzmik GA, Sang AX, Elefteriades JA. Natural history of thoracic aortic aneurysms. Journal of Vascular Surgery. 2012 Aug;56(2):565–71. doi:10.1016/j.jvs.2012.04.053
4.  Ganizada BH, Reesink KD, Parikh S, Ramaekers MJ, Akbulut AC, Saraber PJ, et al. The Maastricht Acquisition Platform for studying mechanisms of cell–matrix crosstalk (MAPEX): An interdisciplinary and systems approach towards understanding thoracic aortic disease. Biomedicines. 2023 Jul 25;11(8):2095. doi:10.3390/biomedicines11082095

5. Isselbacher EM, Preventza O, Hamilton Black J, Augoustides JG, Beck AW, Bolen MA, et al. 2022 ACC/AHA guideline for the diagnosis and management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022 Dec 13;146(24). doi:10.1161/cir.0000000000001106 


6.  Interview with Dr. Ehsan Natour, Cardiothoracic surgeon practising in the Maastricht University Medical Center (MUMC+) in Maastricht, Netherlands


7.  Pak S, Kilgore A, Thornhill R, Rako K, Meier A, Pora G, et al. Unprovoked pulmonary embolism in a young patient with Marfan syndrome. Cureus. 2017 Sept 5; doi:10.7759/cureus.1655

8. Sbar GD, Venkataseshan S, Huang Z, Marquet E, Brunswick JW, Churg J. Renal disease in Marfan syndrome. American Journal of Nephrology. 1996;16(4):320–6. doi:10.1159/000169017

9.  Wityk RJ, Zanferrari C, Oppenheimer S. Neurovascular complications of Marfan syndrome. Stroke. 2002 Mar;33(3):680–4. doi:10.1161/hs0302.103816 


10.  Schievink WI, Parisi JE, Piepgras DG, Michels VV. Intracranial aneurysms in Marfan’s Syndrome: An autopsy study. Neurosurgery. 1997 Oct 1;41(4):866–71. doi:10.1097/00006123-199710000-00019