New Collaborative Program Improves Marfan Syndrome Outcomes

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Massachusetts General Hospital recently launched the Marfan Syndrome and Related Conditions Program to provide multidisciplinary care for patients with Marfan syndrome and other related disorders, including Loeys-Dietz syndrome and Vascular Ehlers-Danlos syndrome. Co-directed by Amy Spooner, MD, and Duke Cameron, MD, who is also co-director of the Thoracic Aortic Center, the program is a collaborative effort to better understand the genetics of aortic disease and deliver comprehensive care throughout a patient's life.

"These are syndromes that affect not just the heart and the vascular system, but also other organ systems," says Dr. Spooner. "The goal is to provide not just heart and aortic care to patients, but also to help with all of their other broad needs. If they are managed well, they can live longer lives."

Aorta Repair Extends Life Expectancy

Patients with Marfan syndrome are now living longer than ever. Seventy years ago, the average life expectancy was about 45 years. Now, with proper management, patients can expect to live into their late 70s, often because of a focus on cardiac treatment.

"Most of the early mortality in Marfan patients comes from aortic disasters," says Dr. Spooner. "If we repair aortas early, those folks can live a normal lifespan."

Expertise in aortic valve-sparing procedures is one of many important hallmarks of the new program. "The key is to repair aneurysms prophylactically, before they rupture or dissect," says Dr. Cameron. "We can do the repair with low risk and produce a durable result that doesn't require blood thinners or repeat surgery."

Innovative Aortic Replacement Procedure Preserves the Valve

Composite aortic root replacement, which involves placing a prosthetic valve on a dacron graft to replace the aorta, was the traditional treatment of choice in this patient population, but the technique has significant limitations. Biologic valves degenerate and need replacement again in 10 to 15 years, and with mechanical valves, the patient must take blood thinners for life.

Dr. Cameron and his team repair aortic aneurysms in Marfan syndrome patients and are able to preserve the aortic valve in more than 90% of patients. Dr. Cameron has developed a modification of the valve-sparing procedure that he has used for nearly twenty years, with good long-term results in both adults and children. The technique is a modification of the valve-sparing procedures pioneered by surgeons Tirone David, MD, and Sir Magdi Yacoub, MB, BCH, FACC, where surgeons preserve the native valve and reimplant it, along with the coronary arteries, into a graft that replaces the aneurysm. The David and Yacoub procedures avoid the use of prosthetic heart valves that wear out and put patients at risk for endocarditis, bleeding and clotting complications.

Dr. Cameron and his former colleague, Luca Vricella, MD, modified the David procedure while they were at Johns Hopkins. They feel the simplicity of their version allows surgeons to easily reproduce it. At Mass General, several members of the Thoracic Aortic Center surgical team also successfully perform the procedure.

This procedure is also successful for many patients with aortic regurgitation whose valves leak because the aortic root is dilated. "If the aneurysm is pulling the leaflets apart, you can make the valve work beautifully again," says Dr. Cameron. The exception is for patients whose valves have small tears from long-term leakage. "Once you start seeing a lot of these tears, it's still possible to save the valve, but we don't think they last as long."

Low-Risk Procedure Increases Survival Odds

Dr. Cameron's valve-sparing operation carries a risk of life-threatening complications of less than 1%. It's just as safe for children as it is for adults, which is critical for patients with Marfan syndrome.

"These are patients who tend to be very young at diagnosis," says Dr. Cameron. "We started out doing it just because we thought it was going to make life easier for children. Turns out, it actually helps their survival and allows them to go much longer without the need for repeat surgery."

The same is true of patients diagnosed with Loeys-Dietz syndrome, a condition similar to Marfan syndrome, which was clinically recognized in 2005. Dr. Cameron's valve-sparing aortic root replacement surgery carries the same low risks for Loeys-Dietz patients as it does for the Marfan population.

"There are few surgeons in the country who know how to manage Loeys-Dietz syndrome patients," he says. "The main point is that we must manage those aortas aggressively—way more aggressively than we do with Marfan syndrome. That's the name of the game to improve their life expectancy."

Benefits of a Multipronged Approach

For two decades, the Thoracic Aortic Center has provided innovative, multidisciplinary care for people affected by aortic aneurysms. But Dr. Cameron's arrival in 2017 planted the seeds for the Marfan Syndrome and Related Conditions Program, where patients have access to 14 different subspecialties including endocrinology, genetics, orthopedics, ophthalmology, pain medicine, podiatry, pulmonology, spine surgery and vascular surgery.

"Marfan patients are still not out of the woods after you replace the aorta," says Dr. Cameron. "They need lifetime care and surveillance."

As these patients live longer, experts are learning more about how best to manage Marfan syndrome over a lifetime. "We're finding out they have problems that manifest very late in life," says Dr. Cameron. "You need a program like ours to recognize these problems, develop appropriate treatments and contribute to the body of knowledge so that others can benefit and apply what we've learned."

Learn more about the Marfan Syndrome and Related Conditions Program

Refer a patient to the Corrigan Minehan Heart Center