Marfan Syndrome Care in Grand Rapids, Michigan

Marfan syndrome is a genetic condition that affects the body’s connective tissue. Connective tissue provides strength and flexibility to structures such as:

  • Bones
  • Tendons and ligaments
  • Cartilage
  • Heart valves
  • Blood vessels (especially the aorta)

In Grand Rapids and across West Michigan, people with Marfan syndrome can receive specialized evaluation and treatment through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, Metro Health – University of Michigan Health, and Mercy Health.

What Is Marfan Syndrome?

Marfan syndrome is usually caused by a change (mutation) in the FBN1 gene, which affects a protein called fibrillin-1. This protein is essential for strong, elastic connective tissue. When fibrillin-1 is abnormal, tissues become weaker and more prone to stretching, bulging, or tearing.

  • Around 1 in 3,000–5,000 people are estimated to have Marfan syndrome.
  • Men, women, and people of all ethnic backgrounds are affected at similar rates.
  • There is no cure, but with early diagnosis and proper care, most people can live a near-normal lifespan.

In Grand Rapids, people with suspected Marfan syndrome are often referred to cardiology, genetics, orthopedics, and ophthalmology clinics within local health systems for coordinated evaluation and long‑term follow‑up.

How Marfan Syndrome Affects the Body

Marfan syndrome can range from mild to severe. It may worsen with age, depending on which organs are involved and how significantly they are affected.

Heart and Blood Vessels

The most serious complications involve the heart and aorta:

  • The aorta (the main artery carrying blood from the heart) may become dilated (widened).
  • A weakened aorta is at higher risk of:
    • Aortic dissection – a tear in the inner wall of the aorta
    • Aortic aneurysm – a bulge that can rupture
  • These events can occur under increased pressure, such as:
    • Strenuous exercise
    • Severe emotional stress
    • Pregnancy and childbirth

Heart valves, especially the mitral valve, may also be affected. The valve may not close properly, allowing blood to leak backward.

Mitral Valve Prolapse

When the mitral valve is weakened, it can bulge backward into the upper chamber of the heart. This is called mitral valve prolapse. It can lead to:

  • Backflow of blood (regurgitation)
  • Extra strain on the heart muscle
  • Enlargement of the heart over time

People with damaged valves are also at increased risk of endocarditis, a serious infection of the heart lining or valves. For some procedures—especially certain dental, genital, or urinary surgeries—your Grand Rapids cardiologist or primary care provider may recommend preventive antibiotics to reduce this risk.

Skeleton and Joints

Common skeletal features of Marfan syndrome include:

  • Tall, lean build with disproportionately long arms and legs
  • Long, thin fingers and toes (arachnodactyly)
  • Curvature of the spine (scoliosis)
  • Sunken or protruding chest
  • Loose, flexible joints that may dislocate easily
  • Long, narrow face with a small lower jaw and a highly arched palate

During growth spurts—especially around puberty—regular monitoring by an orthopedic specialist is important. In Grand Rapids, these services are available through pediatric and adult orthopedic clinics at Corewell Health, Trinity Health Grand Rapids, and Metro Health.

Eyes and Vision

Marfan syndrome often affects the eyes. Common problems include:

  • Nearsightedness (myopia)
  • Dislocation of the lens inside the eye
  • Increased risk of retinal problems

Routine eye exams with a slit-lamp examination by an ophthalmologist are essential. Grand Rapids offers multiple eye care centers and hospital-based ophthalmology clinics for ongoing monitoring and treatment.

Nervous System

Some people with Marfan syndrome develop dural ectasia, an enlargement of the outer membrane (dura) surrounding the spinal cord, most often in the lower spine. It may cause:

  • Lower back pain
  • Headaches
  • Sometimes no symptoms at all

Skin and Lungs

Other possible features include:

  • Stretch marks (striae) that appear at a young age and are not related to weight changes
  • Pneumothorax – a spontaneous collapse of the lung, which can cause sudden chest pain and shortness of breath

Anyone in West Michigan experiencing sudden chest pain or breathing difficulty should seek emergency care immediately at a local emergency department (e.g., Butterworth Hospital, Trinity Health Grand Rapids, or Metro Health).

Symptoms of Marfan Syndrome

Symptoms vary widely, even within the same family. Some people have very obvious features; others have mild signs and may not realize they have the condition.

Common signs and symptoms include:

  • Family history of Marfan syndrome
  • Tall, slender body build
  • Long arms, legs, fingers, and toes
  • Long, narrow face and small lower jaw
  • Highly arched palate and crowded teeth
  • Sunken or protruding chest
  • Scoliosis or other spinal curvature
  • Loose, flexible joints
  • Nearsightedness or lens dislocation
  • Stretch marks not related to weight change
  • Enlarged aorta or mitral valve prolapse
  • History of pneumothorax (collapsed lung)

If you or your child in Grand Rapids has several of these features, talk with your primary care provider or pediatrician about a referral to a geneticist or cardiologist experienced in connective tissue disorders.

Complications of Marfan Syndrome

Without monitoring and treatment, Marfan syndrome can lead to serious complications:

  • Aortic aneurysm or dissection
  • Heart valve problems and heart failure
  • Endocarditis (heart valve infection)
  • Progressive scoliosis or chest wall deformities
  • Severe vision problems or retinal detachment
  • Recurrent pneumothorax

Because West Michigan experiences cold, windy winters, it is important for people with heart and lung involvement to:

  • Dress warmly to reduce stress on the cardiovascular system
  • Avoid shoveling heavy, wet snow or other strenuous outdoor activities without medical clearance
  • Seek prompt care for chest pain or breathing changes

Causes and Inheritance

Marfan syndrome is caused by a change in the FBN1 gene:

  • About 3 out of 4 cases are inherited from a parent who also has Marfan syndrome.
  • A child of an affected parent has a 1 in 2 (50%) chance of inheriting the condition.
  • About 1 in 4 cases occur due to a spontaneous (new) mutation in the FBN1 gene, with no previous family history.

Researchers continue to study Marfan syndrome and related conditions. Other genes have been identified that cause similar connective tissue disorders, such as Loeys–Dietz syndrome, which has more aggressive blood vessel disease but typically does not involve the same eye complications.

Genetic research at academic centers across Michigan and the U.S. is improving our ability to:

  • Diagnose Marfan syndrome earlier
  • Distinguish it from related syndromes
  • Offer more precise genetic counseling to families

How Marfan Syndrome Is Diagnosed in Grand Rapids

A confirmed diagnosis usually requires evaluation by multiple specialists familiar with Marfan syndrome, including:

  • Cardiologist – for heart and aorta assessment
  • Ophthalmologist – for eye and vision evaluation
  • Orthopedic surgeon – for skeletal and joint issues
  • Medical geneticist or genetic counselor – for genetic testing and family risk assessment

Diagnostic tools may include:

  • Detailed medical and family history
  • Thorough physical examination
  • Echocardiogram (ultrasound of the heart) to look at heart valves and measure the aorta
  • Eye examination with a slit lamp to detect lens dislocation
  • Skeletal imaging, such as X‑rays, to evaluate spine and chest
  • Genetic testing for FBN1 and related genes, with comparison to established genetic databases

If you live in the Grand Rapids area, your provider may refer you to:

  • Hospital-based cardiology and genetics clinics at Corewell Health or Trinity Health Grand Rapids
  • Regional genetics services coordinated through West Michigan health systems
  • The Kent County Health Department or Grand Rapids Public Health for information on local specialty resources and support

Treatment Options for Marfan Syndrome

There is currently no cure for Marfan syndrome, but many complications can be prevented or delayed with regular monitoring and timely treatment.

Medical Management

Depending on which organs are affected, treatment may include:

  • Medications (such as beta‑blockers or other blood pressure medicines) to:
    • Lower blood pressure
    • Reduce stress on the aorta and heart
  • Regular echocardiograms to:
    • Monitor aortic size
    • Track valve function
  • Routine eye exams to:
    • Check for lens dislocation
    • Monitor for retinal problems
  • Orthopedic follow‑up to:
    • Monitor scoliosis and chest wall deformities
    • Plan corrective treatment if needed, especially during growth spurts

Surgery and Procedures

Some people with Marfan syndrome will eventually need surgery, such as:

  • Aortic surgery – to repair or replace a dangerously enlarged or damaged portion of the aorta
  • Heart valve surgery – to repair or replace severely leaking valves
  • Orthopedic surgery – to correct severe scoliosis or chest wall deformities
  • Eye surgery – to address lens dislocation or other complications

These procedures are available through major Grand Rapids hospitals, which have cardiothoracic surgeons, orthopedic surgeons, and ophthalmic surgeons experienced in complex cases.

Before certain dental, genital, or urinary procedures, your cardiologist may recommend preventive antibiotics to reduce the risk of endocarditis if you have significant valve disease.

Living With Marfan Syndrome in Grand Rapids

With early diagnosis, careful monitoring, and modern treatments, many people with Marfan syndrome now live into their 70s or beyond, similar to the general population. Improved outcomes are largely due to:

  • Greater awareness among healthcare professionals
  • Earlier diagnosis through genetic testing and screening
  • Advances in medications
  • More effective surgical techniques
  • Personalized lifestyle guidance

Lifestyle Changes

Your healthcare team can help you develop a plan tailored to your specific risks. Common recommendations include:

  • Avoiding high‑intensity or contact sports, such as football, hockey, wrestling, or competitive basketball
  • Avoiding heavy weightlifting and isometric exercises, such as pushing or lifting very heavy objects, which can sharply raise blood pressure and stress the aorta
  • Choosing gentle to moderate aerobic exercise (e.g., walking, casual cycling, light swimming), as approved by your cardiologist
  • Avoiding sudden bursts of exertion, especially in cold weather (for example, shoveling heavy snow in a Grand Rapids winter)
  • Not smoking or vaping, to protect the heart and lungs
  • Managing blood pressure and cholesterol, especially important in Michigan where heart disease is common
  • Keeping regular follow‑up appointments with your cardiologist, ophthalmologist, and orthopedist

Pregnancy and Marfan Syndrome

Pregnancy can place extra strain on the heart and aorta. Women with Marfan syndrome—especially those with a dilated aorta—require:

  • Pre‑pregnancy cardiac assessment
  • Close monitoring by a high‑risk obstetrician (maternal–fetal medicine specialist) and cardiologist throughout pregnancy and postpartum
  • Careful planning for labor and delivery to minimize stress on the aorta and heart

Women in the Grand Rapids area can access high‑risk pregnancy care through major hospital systems with maternal–fetal medicine programs.

Genetic Counseling and Support in Michigan

If Marfan syndrome runs in your family—or if you or your child has been diagnosed—genetic counseling can be very helpful. Genetic counselors are trained in both genetics and counseling and can:

  • Explain how Marfan syndrome is inherited
  • Discuss your personal and family risk
  • Review options for genetic testing for you and relatives
  • Help you understand what a diagnosis means for health, development, and future pregnancies
  • Provide emotional support and connect you with resources and support groups

You may wish to see a genetic counselor if:

  • You have a family history of Marfan syndrome
  • You are planning a pregnancy and want to understand your risks
  • You are considering prenatal or preconception testing

In Michigan, genetic counseling services are available through major hospital systems and university-affiliated clinics. The Genetic Support Network of Michigan (GSNM) and other state and national organizations can help connect you with:

  • Local and online support groups for Marfan syndrome and related conditions
  • Educational resources for families, schools, and employers
  • Advocacy and community programs

Local Resources for Marfan Syndrome in Grand Rapids

If you live in Grand Rapids or the surrounding West Michigan area, consider the following resources:

  • Primary care provider or pediatrician – first step for evaluation and referrals
  • Corewell Health, Trinity Health Grand Rapids, Metro Health, and Mercy Health – cardiology, genetics, orthopedics, ophthalmology, and high‑risk obstetrics services
  • Kent County Health Department / Grand Rapids Public Health – information on local clinics, insurance options, and community resources
  • Michigan-based genetic counseling services – for family risk assessment and testing options
  • Genetic Support Network of Michigan (GSNM) – for statewide support, education, and connections to national Marfan organizations

Key Points About Marfan Syndrome

  • Marfan syndrome is caused by a change in a gene (usually FBN1) that affects connective tissue.
  • The aorta may become enlarged, increasing the risk of tearing (dissection) or bulging (aneurysm), especially during strenuous activity or childbirth.
  • Other common problems include scoliosis, joint laxity, and nearsightedness or lens dislocation.
  • Men, women, and all ethnic groups have similar risk.
  • There is no cure, but with early diagnosis, regular monitoring, and appropriate treatment, most people can live a long, active life.
  • In Grand Rapids, specialized care is available through major health systems, and Michigan-based genetic and support services can help you and your family navigate life with Marfan syndrome.

If you suspect Marfan syndrome in yourself or a family member, contact your Grand Rapids healthcare provider to discuss evaluation and referral to specialists experienced in connective tissue disorders.