Marfan syndrome

Overview

The aorta can widen and tear, so blood pressure control and imaging are important.

Symptoms

Common signs:

• Tall with long limbs

Less common

• Vision problems
• Chest wall shape

Look up a symptom: Blurry vision · Racing or pounding heartbeat · Very flexible joints that slip or dislocate easily

When to get medical care

Causes

Gene change.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.
• It can run in families. Tell your doctor if a parent, brother, or sister has it.

Who is more likely to get it

• Family history

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Echo:
• Eye exam:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Avoid contact sports and heavy lifting

Medicines

Medicines that may help:

OwieClear doesn't give doses: follow the label or your healthcare professional. Medicine names here are examples, not a full list.

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a medical geneticist (genetics doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Care allows a normal lifespan for many.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Marfan syndrome