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What is Marfan Syndrome?
Marfan Syndrome is a genetic condition that affects the body’s connective tissue — the tissue that helps keep all parts of the body supported and working properly. Because connective tissue is found throughout the body, Marfan Syndrome can affect the heart, blood vessels, eyes, skeleton, and other organs.
It varies greatly from person to person: some individuals experience only mild features, while others may face more serious medical challenges.
With proper monitoring, early diagnosis, and specialised care, most people with Marfan Syndrome can lead active and fulfilling lives.
Key Features
Marfan Syndrome affects people differently, but common features may include: Heart and Blood Vessels: Enlargement of the aorta (aortic dilation), risk of aortic dissection, and mitral valve issues. Regular heart scans (echocardiograms) are essential. Eyes: Near-sightedness, lens dislocation, early cataracts, or glaucoma. Annual eye checks are recommended. Skeletal System: Tall or slender build, long arms and legs, curved spine (scoliosis), chest differences (sunken or protruding chest), and joint flexibility. Lungs: Higher risk of collapsed lung (pneumothorax). Skin & Other Features: Stretch marks not related to weight change, hernias, and flat feet. Not everyone has all features, and symptoms can change over time.
Causes
Marfan Syndrome is caused by a change (mutation) in the FBN1 gene, which affects the production of fibrillin-1, a key protein in connective tissue. It is autosomal dominant, meaning only one parent needs to carry the gene for a child to inherit it. In about 1 in 4 cases, the mutation occurs spontaneously, meaning there is no family history. Marfan Syndrome affects all genders and ethnic backgrounds equally. Getting Diagnosed Diagnosis is based on a combination of medical tests, family history, and clinical features. Assessment may include: Echocardiogram to check the heart and aorta Eye examination by an ophthalmologist Genetic testing for the FBN1 gene Physical examination for skeletal and connective tissue features In Ireland, diagnosis is usually made through a hospital specialist such as a cardiologist, geneticist, or paediatrician with experience in connective tissue disorders.
How IT Is
Treated
There is currently no cure, but Marfan Syndrome can be managed very effectively with the right care. Treatment may include: Regular heart monitoring to track aortic size and heart valve function Medication, often beta-blockers or angiotensin-receptor blockers, to reduce stress on the aorta Surgery, when required, to repair or replace parts of the aorta or heart valves Eye care, including glasses, contact lenses, or surgery for lens or retinal problems Physiotherapy or orthopaedic support to manage skeletal issues A coordinated care team — including cardiology, ophthalmology, orthopaedics, and genetics — provides the best long-term outcomes.
Pregnancy
Pregnancy requires specialist monitoring for women with Marfan Syndrome due to additional strain on the heart and aorta. Women should meet with a cardiologist and obstetrician before becoming pregnant to assess risks. Frequent scans during pregnancy are essential to monitor aortic size. Many women with Marfan Syndrome have safe pregnancies with proper care and planning. Delivery plans are tailored individually, depending on heart and aortic measurements.