Tag: Marfan syndrome

How Marfan Syndrome Can Impact Your Heart Health

5 common questions answered by a heart surgeon

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[dropcap]A[/dropcap]bout 90 percent of people with Marfan syndrome will develop changes in their heart and blood vessels.

If you have Marfan syndrome, you have abnormal connective tissue that can cause your blood vessel walls to weaken and stretch. This damage often affects the aorta, the main artery that carries blood from your heart to the rest of your body.

When the walls of your aorta stretch, you have a higher risk of:

  • Aortic aneurysm (bulging)
  • Dissection (tearing)
  • Rupture (bursting)

These can lead to a life-threatening medical emergency.

In this Q&A, Lars Svensson, MD, PhD, Chairman of Cleveland Clinic’s Sydell and Arnold Miller Family Heart & Vascular Institute, answers five of the most common questions he hears from patients with Marfan syndrome.

Q.: When does an aortic aneurysm require surgery?

A.: The larger the aneurysm, the higher the risk of dissection or rupture — and need for emergency surgery. Preventive, repair surgery is an elective, non-emergency procedure that has much better outcomes. Futhermore, long term survival is then similar to age and gender matched survival for the United States.

For the way Cleveland Clinic performs the modified reimplantation operation, now exceeding 700 patients, for elective surgery a mortality risk of less than 0.5 percent can be expected and a 95 percent or better likelihood of the repair working beyond 10 years after surgery.

Typically, we recommend repair surgery when aneurysms become 5.5 cm or larger. However, we may recommend it sooner if you have:

  • Marfan syndrome
  • Loeys-Dietz syndrome
  • Shorter, smaller stature
  • Family history of aortic dissection
  • An aneurysm that is growing quickly (5 mm or more per year)

Q.: Can I stop my aortic aneurysm from growing?

A.: Aneurysms can grow quickly or not at all, depending on the underlying disease. That’s why we monitor them with regular echocardiograms, or cardiac MRI or CT scans, if needed. Blood pressure control is important.

For patients with Marfan syndrome, the best ways to try to limit the growth of an aortic aneurysm is to:

  • Keep blood pressure below 130/80 mm Hg. Often, we will prescribe beta blockers, ACE inhibitors or other medications to help
  • Maintain healthy cholesterol levels
  • Keep resting heart rate below 70 beats per minute
  • Eat a plant-based diet
  • Exercise moderately
  • Avoid smoking

Q.: What does an aortic aneurysm feel like? How do I know if I have one or if it’s getting worse?

A.: Most of the time, you can’t feel an aneurysm. The only way to detect one or see if it’s changing is through imaging scans.

However, if an aneurysm is quite large, you may have:

  • Pain in the jaw, neck, upper back or chest
  • Coughing, hoarseness or difficulty breathing
  • Pain in the lower back, abdomen or groin not relieved by body movement or taking pain medication

If your aorta has started to tear, you may feel severe pain in your chest or back or both. Some people also report pain in the abdomen or stroke symptoms, including sudden weakness, numbness or loss of balance.

Call 911 if you have any of these symptoms.

Q.: Should I be careful about exercising if I have an aortic aneurysm?

A.: In general, people with aortic aneurysms can still do aerobic exercise, while carefully monitoring their heart rate. Sometimes a stress test will help us assess the heart and determine appropriate heart rate limits.

We typically advise patients to avoid heavy isometric exercise and to not lift more than half of their body weight. Doing multiple repetitions with lighter weights is OK.

There are no limits on physical exercise or exertion after you’ve had (and recovered from) surgery to repair an aortic aneurysm. Cleveland Clinic has cared for professional athletes who’ve returned to active competition.

Q.: Should I be careful about doing other recreational activities if I have an aortic aneurysm?

A.: Flying in an airplane, sitting in a hot tub and jumping on a trampoline are typically safe for people who have an aortic aneurysm. There is no scientific evidence indicating otherwise.

Riding roller coasters or other thrill rides may be best to avoid, however. They can cause blood pressure to swing rapidly.

 

Moderate exercise training improves some of the Marfan syndrome symptoms in mice

Regular physical activity is a common therapy for people with cardiovascular problems, but not recommended to those with Marfan syndrome, a rare disease of the connective tissue affecting the cardiovascular system. A study conducted jointly by the University of Barcelona and the August Pi i Sunyer Biomedical Research Institute (IDIBAPS) has analysed for the first time this medical recommendation, analysing the impact of exercise in the development of the disease in mice. The results, published in the scientific journal Journal of the American Heart Association, show that moderate exercise reduces the progression of aortic aneurysm, one of the most severe symptoms of the disease, which can cause arteries to break.

 

Hypothesis without experimental evidence

Physical activity increases the blood the heart pumps per minute. This increase has an impact on the aorta. “So far, it was thought that this mechanic impact, together with a discrete increase of the arterial pressure, could have negative effects on a weak arteria, like the case of patients with Marfan syndrome, and therefore it would dilate faster if the patient exercised,” says Gustavo Egea.

To test this hypothesis, researchers analysed the effects of  on rice with Marfan disease. “During the five months of the experiment, the aorta of those mice who did not exercise dilated twice compared to those mice that were not ill. Mice which exercised experienced a reduction of this dilation until it was indistinguishable from those without the disease,” says Eduard Guash. Also, among the beneficial effects, researchers also saw that moderate exercise for five months reduced the size of the heart (cardiac hypertrophy) compared to those mice that did not exercise.

“The new results go against a clinical concept that was accepted without any  to prove it: it said that all  increased the risk of speeding up the aneurysm progression” says Gustavo Egea.

Thinking lifestyle recommendations twice

Although results in animals should be carefully interpreted before bringing them to patients, researchers highlight that the study provides experimental data that was not available before. “Our work opens the door to conducting studies on humans, but does not verify directly the non-selective recommendation of physical activity to patients with Marfan syndrome,” says Gustavo Egea.

Moreover, the researchers note that the study is focused on the impact of moderate exercise, which is the one recommended to people in general and which has been proved to bring cardiovascular benefits. “We did not face the effects of intense and long exercise and we cannot apply our results to other kinds of  –other than resistance,” says Eduard Guasch.

Marfan syndrome

Marfan syndrome is a genetic disease caused by the mutation of a gene that codifies fibrilin I protein, one of the two main compounds of  that make up the . As a consequence of this mutation, the elastic fiber assembly in tissues is wrong, and therefore the function of relaxation is lost and tissues get damaged faster.

All tissues with elastic fibers or fibrilin I microfibriles are affected, like skin that gets stretch marks, or lungs with emphysema, and the eye lens that moves and causes blindness. The most significant one out of all these dysfunctions is the accelerated weakening of the ascending aorta, which leads to  and the following dissection and breaking of the aorta.

These clinical manifestations are what is known as Marfan syndrome, which, despite being a minority disease, has a high prevalence of 1/5,000 patients and is hard to diagnose.

People with Marfan are tall with disproportionately large extremities. The average life of non-diagnosed people is around 40 years old, and around 50% of people with this disease are not diagnosed. In Catalonia, there can be around 1,500 people with it. The diagnostic is made with a study of clinical manifestation with a score. When in doubt or verification a genetic analysis can be carried out. Nowadays, the only effective therapeutic solution is surgery, and diagnose and regular monitoring of the aneurysm progression with imaging techniques are essential to increase the life of the patients.

 Explore further: Researchers reverse heart failure in Marfan mice

More information: Aleksandra Mas‐Stachurska et al. Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model, Journal of the American Heart Association (2017). DOI: 10.1161/JAHA.117.006438 

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