Treatments
At the bottom of the page, you'll find a glossary where highlighted words are explained in more detail .
Medications
There are four main medications that are being used:
1. β-Blockers [1,2]: ability to reduce blood pressure, cardiac inotropy, and shear stress on the aorta
2. Renin-angiotensin system antagonist [2]: Angiotensin-converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARB) : an alternative or companion treatment to a beta blocker for patients with MFS with aortic aneurysm (i.e. lowering the blood pressure) or a risk factor for development of aortic aneurysm
3. Statins [2]: lipid-lowering and antioxidative effects as well as potential in preventing rupture, dissection, death, and need for surgical intervention in patients with TAAs
4. Losartan [2]: may have protective effect by antagonising activity of transforming growth factor-β2 (TGFβ)
Surgical Procedures
The standard of treating aortic aneurysms in Marfan patients is aortic replacement surgery. A procedure called ‘(frozen) elephant trunk procedure’ (figure 1) is a golden standard [3-5] for when one is expecting an imminent aneurysm in the aorta; this encompasses treatment of aortic aneurysms and dissections in the aortic arch and descending aorta.
Endovascular aortic repair [3]
This procedure is a possible treatment of aortic aneurysms but is not an ideal treatment plan for Marfan patients. This technque requires a ‘landing zone’ for a stent, however, a landing zone is not possible in Marfan patients due to the continuously growing tissue. This approach will only be possible when used in hybrid with other procedures.
Treatment difference [3]
When treating Marfan patients, it is essential to keep in mind that it is an ongoing process and worsening of the condition is to be expected, as a result of this, next step surgeries must also be provided to the patients. Their tissue is also very weak and more fragile than normal; extra precaution must be taken.
I can hear ticking in my heart? Oh, it’s the mechanical valves! [3]
The target of surgeries is to regain and restore the patients’ quality of life and therefore treat them in the best possible, sustainable treatment. A young patient in need of a heart valve would be recommended a mechanical valve; this may cost a lot but it would last their whole life. This however would come with the need to take lifelong anticoagulation medications and is known to have some complications and side effects such as thrombolytic events, calcification in vessels, etc. The valve itself may make some ticking noise and you would be able to hear it in action!
For older people (older than 60-65 years), a biological valve would be recommended. Though anticoagulation drugs are unnecessary, these valves would last only 10-15 years before they need to be replaced. Therefore, unless the patient insistently refuses the mechanical valves, this would not be recommended for younger patients.
Who is going to be treating me? [3]
Marfan syndrome patients require a very multidisciplinary team throughout their course of treatment. The patient would be discovered by possibly their general practitioner before being sent to the hospital to a cardiologist or vascular specialist. They will then identify if the aneurysm is in the aortic root, ascending, descending, or arch and the heart team will be involved (cardiologist and cardiac surgeon). From then on, the aortic team will discuss with the team consisting of a vascular specialist, cardiologist, heart surgeon, perfusionist, and everyone playing a role in the circuit. In addition to this, genetic specialists will be in charge of the blood investigations and screening may be done in other family members.
Want to know more?
Check out the concept list
Antagonist / Antagonising activity | opposing or counteracting activity.
Anticoagulation medications | medicine to help prevent blood clots. They can break down existing clots or prevent clots from forming.
Antioxidative effects | acting to counteract the damaging effects of oxidation in a living organism.
Damaging effects of oxidation | Oxidative stress has more harmful properties than helpful ones. It can break down cell tissue and cause DNA damage. This damage can also result in inflammation. These factors can lead to lifelong diseases like diabetes or cancer, in some cases.
Calcification in vessels | pathological deposition of minerals in the vascular system. The calcium buildup in the blood vessels will cause coagulation/clogging or it may cause the tissue to harden and affect elasticity.
Cardiac inotropy | a measure of intrinsic contractile strength in the form of myocardial fibre shortening.
Circuit | involves the circulation of blood throughout the body. There are two circuits. The pulmonary circulation is a short loop from the heart to the lungs and back again. The systemic circulation carries blood from the heart to all the other parts of the body and back again.
(frozen) Elephant trunk procedure | These hybrid stent-graft prostheses encompass a covered stent sutured to the distal end of a conventional tube graft to provide expansive radial force on the distal portion of the elephant trunk.
Golden standard | great or excellent example / the best of the best. An ideal reference test used for comparison with a novel method.
Hybrid | combining two different things.
Landing zone | area that creates the best opportunity for good positioning and attachment of the stent graft, allowing a good seal and fixation.
Lipid-lowering | a diverse group of pharmaceuticals that are used to lower the level of lipids (fats) and lipoproteins such as cholesterol, in the blood (hyperlipidemia).
Perfusionist | certified medical technician responsible for extracorporeal oxygenation of the blood during open-heart surgery and for the operation and maintenance of equipment (as a heart-lung machine) controlling it.
Renin-angiotensin system | a critical regulator of blood volume, electrolyte balance, and systemic vascular resistance. It is responsible for acute and chronic alterations of arterial pressure.
Risk factor | something that increases risk. something that makes a person more likely to get a particular disease or condition.
Shear stress | a type of stress that acts coplanar with a given cross-section of the material. It arises from shear forces. These forces can cause deformation or sliding of material layers relative to each other, and shear stress quantifies how easily this deformation occurs.
Stent | a splint placed temporarily inside a duct, canal, or blood vessel to aid healing or relieve an obstruction.
TGFβ | A protein that controls various cell processes like growth and repair, playing a role in tissue development
Thrombolytic events | when blood clots block your blood vessels.
Vascular specialist | a doctor who specialises in the treatment of arteries and veins. They can help you with a variety of issues that affect your blood vessels.
Are you curious about the scientific publications used to write this article? Check out the references!
1. Treatment - Marfan syndrome [Internet]. NHS; [cited 2024 Jun 17]. Available from: https://www.nhs.uk/conditions/marfan-syndrome/treatment/
2. Wright MJ, Connolly HM. Management of Marfan syndrome and related disorders [Internet]. [cited 2024 Jun 17]. Available from: https://www.uptodate.com/contents/management-of-marfan-syndrome-and-related-disorders#H7
3. Interview with Dr. Ehsan Natour, Cardiothoracic surgeon practising in the Maastricht University Medical Center (MUMC+) in Maastricht, Netherlands
4. Velasquez CA, Zafar MA, Saeyeldin A, Bin Mahmood SU, Brownstein AJ, Erben Y, et al. Two-stage elephant trunk approach for open management of distal aortic arch and descending aortic pathology in patients with Marfan syndrome. Annals of Cardiothoracic Surgery. 2017 Nov;6(6):712–20. doi:10.21037/acs.2017.11.11
5. Uchida N, Katayama A, Kuraoka M, Katayama K, Takahashi S, Takasaki T, et al. Extended aortic repair using frozen elephant trunk technique for Marfan syndrome with acute aortic dissection. Annals of Thoracic and Cardiovascular Surgery. 2013;19(4):279–82. doi:10.5761/atcs.oa.12.01930
6. Saeyeldin A, Gryaznov AA, Zafar MA, Wu J, Mukherjee S, Vallabhajosyula P, et al. Interstage mortality in two‐stage elephant trunk surgery. Journal of Cardiac Surgery. 2021 Feb 26;36(6):1882–91. doi:10.1111/jocs.15441