Home / Marfan Syndrome Test and Treatment NYC
Marfan syndrome is an inherited condition that affects the connective tissue and can also affect both the heart and the aorta. It is seen in individuals who have unusually long arms, fingers, and toes. It can be diagnosed by an echocardiogram which is a 30 minute test to determine any cardiac manifestations of the syndrome.
The largest artery in your body, the aorta delivers oxygenated blood from your heart to the rest of your body. When your heart is hampered by disease, it affects your entire body because every cell needs a constant supply of the nutrients your blood carries. When your aorta is damaged, the blood may never reach the rest of your body, even if your heart is strong.
Aorta disease develops over time. When the symptoms progress to a tipping point, the hidden damage shows itself. By that point, you need immediate medical attention from the best cardiac doctors of our cardiology practice. Advanced aorta disease causes your aorta to split, which is called a dissection. When the disease causes the aorta to dilate, that’s called an aneurysm. Both can be fatal.
Types of Aortic Aneurysms
Aortic aneurysms fall into three categories:
- Abdominal aortic aneurysms. If a rupture occurs in your aorta, it can result in fatal bleeding if not stopped with emergency surgery. Symptoms include back pain, feeling a pulse in your bellybutton area and a consistent, deep pain in your abdomen or on the side of your abdomen.
- Thoracic aneurysms. When experiencing pain from a thoracic aneurysm, you feel an intense pulsing pain in your chest.
- Thoracoabdominal aneurysms. When an aortic wall weakens from the effect of ballooning, it can eventually rupture your aorta. Then you need emergency surgery.
I have never been to a doctor as knowledgeable and caring as Dr Reisman. Excellent bedside manner, highly knowledgeable and simply brilliant. His office staff is excellent and you are seen at your assigned time – super rare in NYC. Don’t consider any other cardiologist because he is as good as it gets, really ~ ZocDoc
Marfan Syndrome Symptoms
Marfan syndrome is a connective tissue disorder affecting your heart and blood vessels. It can also affect your eyes, bones and ligaments. If you suffer from Marfan syndrome, you don’t have the protein in your body that allows you to strengthen your connective tissue. Without this protein, called fibrillin 1, you don’t grow and develop properly.
Marfan syndrome sufferers are more likely to get aorta disease than others, so it helps to know if you have it. While the symptoms of Marfan syndrome vary from person to person, they typically include:
- A tall and slender build
- Heart murmurs
- Inordinately long arms, fingers, legs and toes
- A breastbone that either protrudes out or dips in
- Abnormal curvature of the spine
- Flat feet
- Crowded teeth
Diagnosing the Cause of Marfan Syndrome
The primary cause of Marfan syndrome is a defect in the gene responsible for protein production. This defect stops your ability to build connective tissue that’s strong and elastic. And without this connective tissue, results can include aorta disease.
To determine if you have Marfan syndrome, your Manhattan heart doctors has to conduct a Marfan syndrome test. Because the symptoms of connective tissue disorders often mirror each other, Marfan symptom is a difficult condition to identify. A Marfan syndrome genetic test may be required. Diagnostic tests for Marfan syndrome include:
- This Marfan syndrome test employs sound waves that show live images of your heart as it’s functioning. Your local cardiologist doctor reviews your heart valves, along with the size of your aorta to make sure your heart anatomy is normal.
- Eye tests. A slit-lamp exam tests you for cataracts, lens dislocation or a detached retina. An eye pressure test determines if you have glaucoma, which happens when the pressure in your eye remains elevated for a long period of time. Glaucoma is a symptom of Marfan syndrome.
- Genetic testing. If you have the genetic mutation, it was likely passed down to you from your parents. A Marfan syndrome genetic test confirms if this is the case.
- Abdominal aorta ultrasound. This non-invasive procedure uses high frequency sound waves to take images of your aorta to identify any problems. If your aorta grows to over three centimeters in diameter, you have an abdominal aortic aneurysm.
Treating Marfan Syndrome
To date, Marfan syndrome has no cure. Your genetic mutation can’t be corrected. But there are a number of Marfan syndrome treatment options that help make this condition easier to live with, including medications such as:
- Beta blockers. This medication relieves the blood pressure on your aorta, curbing the rate of its dilation.
- Calcium channel blocker. This medicine reduces stress on your aorta. It’s a replacement medication if you have an adverse reaction to beta blockers.
- ACE inhibitors. Like calcium channel blockers, these medications are recommended in place of beta blockers. They relieve stress on your aorta.
There are also some surgical Marfan syndrome treatments. Surgical options include:
- Composite valve graft. During this surgery, parts of both your aorta and aortic valve are removed. A graft is put in place of your aorta, and a man-made valve replaces your original valve.
- Aortic valve-sparing. If your aortic valve is functioning well enough and your issues only involve your aorta, this surgery replaces the enlarged area of your aorta with a graft.
While all these conditions are serious and potentially life-threatening, the team at the New York Cardiac Diagnostic Center can accurately diagnose and treat you to keep you healthy. The staff guides you through every step of the treatment process, keeping you fully informed of your options. Contact us today to improve your quality of life — for today and tomorrow.
If you have any questions for the best rated cardiovascular doctor in NYC, top Marfan Syndrome specialist or would like to schedule a consultation or appointment please feel free to contact Dr. Steven Reisman of the New York Cardiac Diagnostic Center and indicate which Manhattan office (Upper East Side, Midtown Manhattan, or Wall Street / Financial District) you would like to see the cardiologist for the Marfan Syndrome test and treatment plan.
Dr. Steven Reisman is an internationally recognized cardiologist and heart specialist. He is a member of the American College of Cardiology, American Heart Association, and a founding member of the American Society of Nuclear Cardiology.
Dr. Reisman has presented original research findings for the early detection of "high risk" heart disease and severe coronary artery disease at the annual meetings of both the American College of Cardiology and the American Heart Association. Dr. Reisman was part of a group of doctors with the Food and Drug Administration who evaluated the dipyridamole thallium testing technique before the FDA approved it.
Dr. Steven Reisman's academic appointments include Assistant Professor of Medicine at the University of California and Assistant Professor at SUNY. Hospital appointments include the Director of Nuclear Cardiology at the Long Island College Hospital.
