How Marfan Syndrome Affects Your Heart

Woman Heart Exam

About one in 5,000 people have a genetic disorder called Marfan syndrome. This condition affects the connective tissues that hold together the body’s cells, organs, and tissues.

Because connective tissue is found all over the body, Marfan syndrome can affect many different systems – including the heart and blood vessels.

That’s why early and accurate diagnosis is crucial: the earlier treatment is offered, the lower the chance of a serious heart condition.

Marfan Syndrome and the Aorta

While Marfan syndrome is a condition you’re born with, its defining features aren’t always present right away. In fact, some don’t develop until adulthood.

Each person with Marfan syndrome experiences it differently. Some signs are visible, including:

  • Arms, legs, fingers and toes that are longer than expected
  • Taller stature than expected for the family
  • Crowded teeth

Other signs – such as problems with the heart and blood vessels – are harder to detect.

The most common heart problems involve the aorta: the main blood vessel that carries blood from the heart to the rest of the body. Marfan syndrome can weaken the aorta and lead to serious problems, including:

Marfan Syndrome and Aortic Dissections

Aortic dissections cause a sudden, severe pain in the center of the chest, stomach, or back. However, it can also surface as a milder pain in other spots. Either way, an aortic dissection is a medical emergency that must be treated right away.

There are two kinds of aortic dissection:

  • Dissection of the ascending aorta (Type A), which is more common in Marfan syndrome. Without immediate surgery, it can be life-threatening.
  • Dissection of the descending aorta (Type B), which can usually be managed with medication and monitoring.

Managing and Treating Marfan Syndrome

About 90 percent of people diagnosed with Marfan syndrome will develop some type of problem with their heart or blood vessels – most commonly affecting the aorta.

However, once Marfan syndrome is diagnosed, treatment can address the risk of a serious heart problem. Medications, lifestyle changes, and surgical procedures may be used.

For instance, an aortic aneurysm can be treated with medication to lower blood pressure, which can prevent an aneurysm from rupturing. A surgical procedure may also be used to treat an aortic aneurysm.

Because some features of Marfan syndrome can develop later in life, and can avoid detection during the course of routine exams, regular monitoring is important after a diagnosis. Should symptoms of a heart or blood vessel condition emerge, more specialized tests are often necessary.

Cardiologists and cardiac surgeons in Penn’s Center for Inherited Cardiovascular Disease and the Aortic Center can give you the tools to manage and treat Marfan syndrome, reducing the chance of life-threatening aortic conditions.

About this Blog

The Penn Heart and Vascular blog provides the latest information on heart disease prevention, nutrition and breakthroughs in cardiovascular care.


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