Marfan syndrome

A connective tissue condition that stretches the aorta. Tall and long-limbed is the recognisable part; the annual heart scan is the part that saves lives.

What it is

An inherited condition of connective tissue, the material that holds the body together. Because connective tissue is everywhere, it affects the skeleton, the eyes and, critically, the aorta.

The danger is aortic dilatation. The main artery leaving the heart gradually widens and can tear or rupture, which is often fatal. That risk is the reason for lifelong annual echocardiograms, blood pressure medication to reduce stress on the aorta, and elective surgery to replace the aortic root before it tears. Managed properly, life expectancy is now close to normal; unrecognised, people die suddenly in their thirties and forties.

It is inherited in a dominant pattern, so each child of an affected parent has a one in two chance, though around a quarter of cases are new mutations.

Eye involvement is common: dislocation of the lens, severe short-sightedness, and a raised risk of detached retina and glaucoma.

It is often confused with hypermobility spectrum disorders and Ehlers-Danlos syndromes, and the distinction matters because the aortic risk is specific.

Not everyone with Marfan is tall, and not every tall person has Marfan. Diagnosis uses a formal set of criteria plus genetic testing.

Signs you might notice

Tall and slim with disproportionately long arms, legs, fingers and toes.

A long, narrow face, a high arched palate, and crowded teeth.

A chest that sinks in or sticks out, scoliosis, and flat feet.

Joints that are unusually flexible, and stretch marks not explained by weight change.

Severe short-sightedness, and a lens that has slipped out of position.

Fatigue and joint or muscle pain, which are common and rarely mentioned.

999: sudden severe tearing chest or back pain, which may be aortic dissection. Say the word Marfan; it changes the assessment immediately.

Urgent: sudden change in vision, floaters or a curtain across the vision; sudden breathlessness and chest pain, which may be a collapsed lung, to which people with Marfan are prone.

How it can affect day-to-day life

The permanent background is knowing about the aorta. Living with a monitored risk of sudden death shapes decisions about work, sport and children, and psychological support is rarely offered.

Contact and competitive sport, heavy lifting and isometric exercise are generally restricted, and that is a real loss in adolescence that deserves acknowledging rather than instructing.

Pregnancy carries significant aortic risk and needs pre-pregnancy assessment and specialist management, not booking in at 12 weeks.

Because features involve several specialties, care is easily fragmented. A specialist Marfan clinic coordinates it and is worth asking for.

Pain and fatigue are common, under-recognised and treatable with physiotherapy and pacing.

Supporting someone well

Keep the annual echocardiogram. It is the intervention that prevents sudden death.

Take the beta blocker or angiotensin receptor blocker, which slows aortic widening.

Learn the dissection symptoms and say Marfan at the door of any emergency department.

Have an annual eye examination with an ophthalmologist, and report sudden visual change the same day.

Ask for family screening; first-degree relatives should be assessed.

Avoid contact sport, heavy weights and isometric straining; ask what activity is safe rather than guessing.

Plan pregnancy in advance with cardiology and obstetrics together.

Ask for a specialist Marfan service rather than piecemeal care.

Where to get help

A GP practice for referral; a specialist Marfan or inherited aortic condition clinic.

999 for sudden severe chest or back pain.

Same-day eye assessment for sudden visual change.

British Heart Foundation on 0808 802 1234 for aortic conditions.