Connective Tissue Disorders Program Provides Comprehensive Care

Male cardiologist gestures while discussing diagnosis with an unrecognizable female patient.For more than two decades, Brigham Health has been providing comprehensive cardiac care for patients with Marfan syndrome and other connective tissue disorders, including Loeys-Dietz syndrome and Ehlers-Danlos syndrome.

Over this time, the team has built a breadth and depth of experience treating and following these patients, as well as generations of their families, that is unmatched at most centers.

Clinic Provides Integrated, Multidisciplinary Care

Cardiologist Michael N. Singh, MD, and Chief of Cardiac Surgery, Prem S. Shekar, MD, head up the Marfan Syndrome and Related Disease Clinic, where patients see multiple cardiac providers in one visit. The team also sees new patients, providing or confirming a diagnosis and creating a treatment plan.

While at the clinic, patients can get referrals and information about other types of specialty care they may need, including genetics, orthopedics, rheumatology, ophthalmology, and physical therapy. “Although our clinic focuses on the cardiovascular implications of connective tissue disorders, we talk with patients about their other health issues and help them determine what other specialists they need to see,” said Dr. Singh.

Surgical care, from stem to stern

Enlargement of the aorta is a serious, yet common, manifestation in Marfan patients, so regular imaging of the aorta is a routine part of clinic visits.

If a patient’s aorta is enlarged, Dr. Singh refers them to Dr. Shekar for surgery when the timing is appropriate, based on the size of the aorta and other considerations. “When we know surgery is down the road for a patient, we introduce them to Dr. Shekar ahead of time, so they get to know him,” said Dr. Singh. “This helps patients feel more comfortable.”

“The most common surgery we do is valve-sparing aortic root surgery,” said Dr. Shekar. “We’re one of only a few academic centers that offers valve-sparing root surgery in the area, and we’ve been able to do it consistently for over 10 years with great outcomes.”

Valve-sparing aortic root surgery offers patients many benefits. Patients don’t need to take anticoagulants, as they would with a mechanical valve. And unlike those with tissue valves, 95 percent of valve-sparing surgery patients don’t need any repeat procedures.

In addition, Dr. Shekar’s partner, Tsuyoshi Kaneko, MD, has expertise in surgery for Marfan patients with diseases of the descending thoracoabdominal aorta. “We are able to provide comprehensive aortic surgical care from stem to stern,” said Dr. Shekar.

Using Genetic Screening to Provide Individualized Care

The team routinely uses genetic screening and surveillance to inform treatment options. Adults are often diagnosed retrospectively, and this can have implications for the entire family.

“By doing genetic screening, you can trace the lineage of several generations to see who’s at risk,” says Dr. Shekar. “And we use genetics to modify our approach. For example, if someone in a family died of an aortic catastrophe with an aorta that was nearly normal in size, we might choose to operate on other family members sooner than we typically would, to minimize their risk.”

Specialized Care During Pregnancy and Beyond

Women who have Marfan syndrome and related diseases require special cardiac care during pregnancy, and the team is uniquely prepared to provide that care by drawing on specialists from across Brigham Health and Boston Children’s Hospital.

“We work closely with the Brigham’s Maternal-Fetal Medicine obstetrician, Katherine E. Economy, MD, who provides high-risk pregnancy care for women with cardiac issues  and ensures they have a healthy pregnancy and safe delivery,” said Dr. Singh. The team also offers joint clinics for pregnant patients for an integrated care experience.

The relationship with Boston Children’s Hospital extends beyond pregnancy.  “One of the most distinctive aspects of our program is our collaboration with pediatric cardiologist/geneticist Dr. Ron Lacro and his pediatric team at Boston Children’s Hospital,” said Dr. Singh. “The unique connection between our two groups allows us to provide seamless care for patients of all ages and provides a smooth transition of care from pediatric to adult.”

Hosting National Conference in 2020

On July 9-12, 2020, Brigham Health and Boston Children’s Hospital will be co-hosting the Marfan Foundation’s Annual Conference in Boston. This three-day event is a time for patients and families to meet with physicians and researchers for exams, talks, and workshops. Clinicians caring for patients affected by Marfan and related disorders are encouraged to attend and share the event with their patients