Marfan Syndrome Program

Marfan syndrome is a disorder that affects the body’s connective tissues and makes them weaker than they should be.

It can be inherited and passed through families or caused by a spontaneous mutation of the FBN1 gene, which encodes fibrillin, the connective tissue protein. Marfan syndrome symptoms can affect many different parts of the body, and symptoms can include tall stature, long fingers, scoliosis, changes in the chest walls and problems of the heart and blood vessels. In some cases, Marfan syndrome can affect the aorta, the main artery that supplies blood to the body, which can result in aortic dilatation and potentially lead to an aortic dissection. Marfan syndrome is rare, impacting about 1 in 5,000 people, affects boys and girls equally, and is not known to affect any ethnicity more than others.

Marfan Syndrome Heart and Vascular Problems Can Include:

• Aortic Aneurysm: An aortic aneurysm is a bulge that develops in the wall of the aorta that can rupture and cause life-threatening bleeding.
• Dissecting Aortic Aneurysm: A serious and life-threatening condition in which a tear occurs in the middle layer of the aorta, causing blood to rush through the tear, splitting the middle layers of the aorta.
• Arrhythmia: Also known as a heart rhythm disorder, an arrhythmia is an abnormality of the heart’s electrical system that causes it to beat too fast, too slow or in an irregular way.
• Cardiomyopathy: A disease of the heart muscle that reduces the heart’s ability to pump blood effectively.
• Heart Failure: A condition in which the heart does not squeeze or relax normally, making it unable to pump enough blood to deliver oxygen to meet the needs of the body.
• Mitral Valve Prolapse: A heart condition in which the two flaps of the mitral valve do not close smoothly.

At the Children’s Heart Center, we understand that children with Marfan syndrome need high-quality, specialized cardiovascular care, and we bring together a team of pediatric cardiologists, cardiothoracic surgeons, cardiac advanced practice providers and genetic counselors. A service offered through our Aorta and Vascular Program, our Marfan Syndrome Program is one of the largest programs of its kind in the Southeast, with more than 5,000 patient encounters since its inception in 2012, more than any other pediatric hospital in the state. We are the only program in Georgia that is accredited by the Marfan Foundation, a distinction that recognizes facilities with expertise in treating Marfan syndrome and related conditions.

The pediatric cardiologists at the Children’s Heart Center perform full physical exams and evaluations to diagnose Marfan syndrome and associated cardiovascular conditions. We offer a variety of diagnostic tests that may include:

• Genetic Testing: The Children’s Cardiology genetic counselors assist in obtaining detailed family histories to determine a child’s risk of inheriting Marfan syndrome, as well as perform genetic testing to confirm a suspected Marfan syndrome diagnosis.
• Echocardiogram: An echocardiogram is a test that uses sound waves to create a detailed picture of the heart and its structures. Thoracic echocardiograms may be used to look for or diagnose aortic dilatation or mitral valve prolapse.
• Electrocardiogram: An electrocardiogram is a test that records the electrical signals in a heart to monitor the heart’s overall health and to identify heart problems.
• CT Scan: Also known as a computed tomography scan, a CT scan uses X-ray technology to create cross-sectional images of your child’s heart and blood vessels.
• MRI Scan: Also known as magnetic resonance imaging, an MRI is an imaging test that uses a large magnet, radio waves and a computer to take high quality pictures of your child’s heart and blood vessels.

Marfan syndrome treatment is personalized based on each patient’s unique needs, and typically depends on your child’s age, symptoms and the severity of their condition.

Medical Treatment

Your child’s pediatric cardiologist may prescribe medications such as angiotensin receptor blockers or beta blockers to help lower blood pressure or slow the growth of aneurysms.

Surgical Treatment

If your child is diagnosed with a cardiovascular condition associated with Marfan syndrome, surgery may be needed in some cases.

• Aortic Repair: A surgical procedure used to treat aortic aneurysms in which the surgeon removes the aneurysm and places a graft in the affected area.
• Valve Sparing Root Replacement (VSRR): A surgical procedure to treat an aneurysm in the aortic root, the part where the heart and the aorta connect. During aortic root surgery, the surgeon replaces the affected section of the aorta with a graft.
• Aortic Valve Replacement: When there is significant valve dysfunction, surgeons may sometimes replace the aortic valve with a bioprosthetic or artificial aortic valve.
• Mitral Valve Repair: A surgical procedure in which the surgeon adjusts the mitral valve apparatus and valve leaflets to improve mitral valve function.

Long-Term Care for Children with Marfan Syndrome

While there is no cure for Marfan syndrome, due to breakthroughs and advancements in medical and surgical care, children with Marfan syndrome are often able to live normal lives. Most patients will need to see a pediatric cardiologist each year to monitor their cardiovascular health. Additionally, given our experience with Marfan syndrome patients, we can assist with referrals to specialists who are familiar with other complications.

Other specialists your child may need to see can include:

• Orthopedic and Spine Specialists 
• Ophthalmologists
• General surgeons
• Psychiatrists and Behavioral Health Specialists

Cardiologists

• Glen Iannucci, MD
• Denver Sallee, MD
• Stephanie Wechsler, MD

Cardiothoracic Surgeons

• Paul Chai, MD
• Mohan John, MD
• Joshua Rosenblum, MD, PhD
• Subhadra Shashidharan, MD
• Fawwaz Shaw, MD

Advanced Practitioners

• Heather Jordan, MSN, CPNP-PC 

Outpatient Pediatric Cardiology Locations

Children’s Cardiology sees patients at more than 20 outpatient locations throughout Georgia.

View outpatient cardiology clinic locations >

Call 404-246-2593 or complete a form to schedule an appointment >

Cardiothoracic Surgery:

Egleston Hospital
1405 Clifton Road NE
Atlanta, GA 30322
404-785-6476

Note: These services will move to Arthur M. Blank Hospital upon its opening on Sept. 29, 2024.