Living with Neonatal Marfan syndrome
Information, shared experiences and research connections for people living with Neonatal Marfan syndrome and those who support them.
Understanding Neonatal Marfan syndrome
Marfan syndrome is caused by changes in the FBN1 gene, which helps give strength to connective tissue; the change can be passed down from a parent or happen for the first time in the baby.
Signs & symptoms
Doctors may notice signs like these in a newborn or infant:
- Heart valve problems and a heart murmur
- Widening (bulging) of the main artery from the heart
- Breathing trouble after birth
- Feeding difficulties and low muscle tone
- Long, thin fingers and joints that stay bent
- Eye problems such as severe nearsightedness or a lens out of place
Tell your care team about new or changing symptoms.
Diagnosis
- 1Exam and family history
Your baby's doctors look for signs of Marfan syndrome and ask about family health history.
- 2Heart imaging
An echocardiogram (heart ultrasound) measures the main artery and checks how the heart valves are working.
- 3Genetic and eye tests
A blood test can look for changes in the FBN1 gene, and an eye exam can check for a lens that is out of place.
Care & treatment
- Care team
- Babies are often cared for by a team that can include heart doctors, geneticists and other specialists, often at a children's hospital or academic medical center.
- Treatment
- There is no cure, but treatments such as blood pressure medicines and, in some cases, heart or blood vessel surgery may help delay or prevent problems.
- Your plan
- Your baby's care plan will focus on the heart and on symptoms like breathing and feeding, with close follow-up.
Discuss benefits, risks and follow-up with your care team.
Everyday life
Keeping things organized can help you and your baby's team:
- Keep a notebook of your baby's feeding, breathing and any changes you notice between visits.
- Keep copies of heart test results, genetic results and a list of medicines in one place.
- Ask who to call after hours and which warning signs mean you should seek care right away.
You are more than your diagnosis
Perspectives from people navigating life with Neonatal Marfan syndrome.
Explore research for Neonatal Marfan syndrome
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- Phase 3 studies first, with nearest research center
- Study information from ClinicalTrials.gov
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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