Loeys-Dietz syndrome (LDS) is a disorder that attacks the connective tissue in the body, leaving individuals with the syndrome susceptible to cardiovascular complications. These complications, which can be life-threatening if left untreated in individuals with LDS, include mitral valve prolapse, aortic dissection, and aortic aneurysms, most of which will require surgical intervention.
Surgery is a big word and it can seem very scary, which can be stressful not just for the person who must undergo an intervention, but also for their family. This blog is meant to be a comprehensive guide to help individuals with LDS better understand when surgery might be necessary and the types of procedures that may be performed, as well as to prepare them and their families to improve patient outcomes and minimize stress.
Medical Disclaimer
The information provided here is meant to empower individuals to make informed decisions – it does not, however, replace a reader’s relationship with their doctor. Please speak with a qualified healthcare professional before making medical decisions.
Research for LDS is ongoing.
The Loeys-Dietz Syndrome Foundation Canada is not responsible for the quality of the information or services provided by organizations mentioned on loeysdietzcanada.org, nor do we endorse any service, product, treatment, or therapy.
Table of Contents
Cardiovascular complications
First, let’s delve deeper into the different possible cardiovascular complications requiring immediate surgical intervention. These complications often arise in connective tissue disorders as they result in weakened resistance force of the walls of the major artery (known as the aorta) that carries blood out from the heart to the body.
Aortic dissection is a condition in which a tear forms in the inner layer of the aorta. This tear allows blood to rush through, resulting in the accumulation of a pool of blood between the inner and middle layers of the aorta, which makes them split (dissect) apart. Aortic dissections are classified according to the two regions of the aorta where they occur. Type A aortic dissections affect the ascending aorta (between the heart and aortic arch) but can also extend to the arch or descending aorta, while type B aortic dissections affect the descending aorta (between the arch and abdomen). Individuals who experience tears (dissections) may be more predisposed to having further elongation of the tear or tears in branch vessels as secondary problems.
An aortic aneurysm occurs when the pressure of blood pumping through the arteries causes a balloon-like bulge of the weakened wall of the aorta and increases the width of the aorta in that area. Aortic aneurysms can also increase the likelihood of developing an aortic dissection.
In a mitral valve prolapse, the flaps of the mitral valve, which acts as an opening and closing door and allows blood to travel from one chamber of the heart to another, do not close properly with each beat of the heart, which can cause blood to backflow (in the opposite direction from normal) within the heart. In patients with connective tissue disorders, the tissue responsible for opening and closing of this valve is often weaker, resulting in poor valve function. This leads to decreased blood flow throughout the body.
A bicuspid aortic valve is a birth defect that can present in individuals with LDS. Usually, the aortic valve has three leaflets, while a bicuspid valve only has two leaflets. This defect can result in the degeneration of the aortic valve and the dilatation of the aorta.
Protocol for surgery
The decision to undergo vascular surgery is typically based on the absolute dimension of the aorta, rate of progression, valve function, severity of non-cardiac features, family history, and information about genotype. Individuals with LDS do extremely well with vascular surgery, as the tissue is not particularly friable or difficult to sew. Moreover, valve-sparing root replacement is a typically safe and well-tolerated procedure in patients.
Preventive and prophylactic vascular surgeries may be performed to prevent arterial aneurysms from growing larger and potentially dissecting. Vascular surgery can also be performed in emergency situations, such as in the case of aortic dissections. Type A aortic dissections are a medical emergency requiring immediate open surgical intervention. Surgery of the ascending aorta might require replacement of the aortic valve (door allowing blood to leave the heart and enter the aorta), depending on the size and proximity of the tear to the aortic valve. Type B aortic dissections, depending on their severity, can require medical therapy or surgical or endovascular intervention.
The surgeries performed can be grouped into two broad categories, namely open or minimally invasive. Open surgery will require larger incisions to be made, whereas minimally invasive surgery will require one or several very small incisions. Endovascular surgery is a type of minimally invasive surgery in which surgeons use catheters (long, thin, flexible tubes) to access arteries and veins. Endovascular procedures often result in less pain, quicker recovery time, and shorter hospital stays. However, in patients with LDS, endovascular procedures are typically only recommended in emergency situations due to weakened aortic walls which can lead to secondary complications and high reintervention rates with uncertain long-term results.
Types of procedures
Here is a list of the different types of surgical procedures that could be considered. The choice of procedure depends on the location and severity of the aortic aneurysm or dissection.
Procedure | Protocol |
Aortic root replacement (ARR) – Bentall procedure | ● Treats aneurysms at the aortic root ● Aortic root is replaced with a graft (synthetic tube) and the aortic valve is replaced with a biological (human or animal tissue) or mechanical (metal or carbon) valve |
Valve-sparing aortic root repair/replacement (VSRR) | ● Treats aneurysms at the aortic root ● Aortic valve-sparing procedure (no replacement of the patient’s native aortic valve) |
Endovascular aneurysm repair (EVAR) | ● Minimally invasive procedure to treat aneurysms in the abdominal portion of the aorta ● A graft (living tissue transplant) is inserted through an artery in the groin, guided through the body, and placed at the site of the aneurysm. The graft creates a new lining of the artery and helps prevent a rupture or dissection. ● Only recommended in emergency situations for patients |
Thoracic endovascular aortic repair (TEVAR) | ● Minimally invasive procedure to repair aneurysms in the thoracic (chest) portion of the aorta ● Same protocol as in EVAR ● Only recommended in emergency situations for patients |
Florida (FL) sleeve procedure | ● Treat aneurysms of the aortic root ● A graft is placed over the aortic root like a sleeve and the aortic valve is not replaced. ● Alternative to other aortic valve-sparing procedures |
Bicuspid aortic valve surgery | ● Procedure to reshape the aortic valve leaflets to ensure that it can open and close more completely ● Minimally invasive “J” incision approach, including aortic valve replacement, ascending aorta surgery, or balloon valvuloplasty |
Personalized external aortic root support (PEARS) | ● Treats aneurysms in the ascending aorta, the portion of the aorta between the heart and aortic arch where blood is travelling upwards ● 3D model of patient’s aorta is used to create a tailored 3D mesh that is soft and supportive and surgically placed over the aorta ● This mesh is softer and more personalized than grafts in other procedures ● Aortic valve-sparing procedure |
Preparing for surgery
Here is a list of some of the questions you may wish to ask your surgeon before your operation:
- How long will the operation take?
- How long before the operation should I have my last meal and/or drink?
- How much pain should I expect after surgery and how will it be managed?
- How long will I be in the hospital after surgery?
- Will I be referred to a cardiac rehabilitation program? If so, how long will I be there?
- How long until I can return to school/work and resume normal daily activities?
What you can expect
Before surgery
An intravenous (IV) line will be placed into a vein in your arm or chest to provide fluids and medicines. The area where the surgeon will make the incision (cut) may be shaved. Also, your skin might be washed with antibiotic soap to reduce the risk of infection. Soon after, you’ll be moved to the operating room and given anesthesia, a medicine that makes you lose consciousness and not feel pain during the surgery.
After surgery
You will remain at the hospital and be monitored by your healthcare providers until they determine you can continue recovering at home. You may spend a day or more in the hospital’s intensive care unit (ICU), depending on the type of surgery performed. An IV line might be inserted in a blood vessel of your arm or chest to provide fluids. A face mask or nasal prongs that fit just inside the nose may also be used to provide supplemental oxygen. These will be removed when no longer required. After that you will be transferred from the ICU to another part of the hospital for several days to be monitored before going home.
Afterwards, you will continue your recovery from home. The healthcare team will provide you with detailed instructions regarding your continued treatment plan, the period after which you can resume your daily activities or school/work, and potential rehabilitation programs, as well as organize follow-up appointments to ensure your recovery.
Discomfort and some pain are to be expected after heart surgery. Medication will be given to ease any pain you might experience. Some common after-effects of cardiovascular surgery include the following:
- Difficulty sleeping
- Constipation, especially if you are taking pain medicine
- Loss of appetite
- Chest or muscle discomfort and/or pain
Consequently, it is crucial to work with your healthcare providers to create a continued treatment plan after surgery. Lifestyle choices and daily habits that promote health are very important in reducing the risk of recurrence of aortic diseases and managing recovery. Since the walls of the arteries in individuals with LDS are weaker, it is very important to maintain healthy habits, such as engaging in regular physical activity (for example, daily walks), reducing salt intake, reducing high cholesterol and consumption of processed foods, and avoiding smoking. It is also important to ensure that you continue to take any medications that have been prescribed for you, such as β-blockers that help lower blood pressure.
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