Marfan syndrome
Connective tissue is what holds the body together from the inside: the walls of arteries, the ligaments of joints, the suspension of the lens in the eye, the…
On this page
- What actually goes wrong
- Features that raise suspicion
- What happens to the eyes
- The heart and the aorta, the reason for all this monitoring
- When to call an ambulance
- How the diagnosis is made
- What follows: monitoring and treatment
- Everyday life: what suits and what to avoid
- Pregnancy and having children
- Online consultation with a doctor
Medicines commonly prescribed for Marfan syndrome
For informational purposes only. Always consult a doctor before using any medicine.
Dosage form: TABLET, 5 mg ramiprilActive substance: ramiprilManufacturer: Laboratorios Normon S.A.Prescription requiredDosage form: TABLET, 5 mgActive substance: ramiprilManufacturer: Teva Pharma S.L.U.Prescription requiredDosage form: TABLET, 5 mgActive substance: ramiprilManufacturer: Sanofi Aventis S.A.Prescription required
Connective tissue is what holds the body together from the inside: the walls of arteries, the ligaments of joints, the suspension of the lens in the eye, the valves of the heart. In Marfan syndrome that material is built from a faulty component and stretches exactly where it should hold. Hence the odd mixture of signs — tall stature, long fingers, short sight, a heart murmur — all of them consequences of a single fault. The syndrome is rare, but recognising it matters: its main danger is silent and very manageable once someone is watching for it.
What actually goes wrong
The FBN1 gene makes a protein called fibrillin-1. Fibrillin forms microfibrils, fine threads that give tissue its springiness and also keep growth signals in check. When one copy of the gene is altered, there are fewer threads and they are weaker: the aortic wall resists blood pressure less well, the ligaments holding the lens slacken, and some bones grow longer than they should.
Inheritance is dominant, so one altered copy out of two is enough. A child of someone with Marfan syndrome therefore has a one in two chance of inheriting it, regardless of sex. In roughly a quarter of cases nobody else in the family is affected: the change arises for the first time in an egg or a sperm cell.
How strongly it shows is unpredictable. Within one family carrying the same genetic change, one person may have nothing but long fingers and short sight while another has a dilated aorta by thirty. The test cannot forecast severity, so every carrier is followed with the same care.
Features that raise suspicion
Usually it is not the patient who notices but somebody else: the person is noticeably taller than their relatives, the arms and legs are disproportionately long, and the fingers are thin and elongated (arachnodactyly). Two simple checks help: the thumb folded across the palm sticks out past the edge of the hand, and the fingers of one hand wrapped around the opposite wrist overlap each other.
Then comes a list from which any one person collects only a part:
- joints that bend further than usual and ache by the end of the day, most often hips, knees and the lower back;
- a breastbone that juts forwards like a keel or sinks inwards;
- a sideways curve of the spine, that is scoliosis, sometimes with back pain;
- flat feet, a narrow elongated face, a high arched palate and crowded teeth;
- stretch marks over the shoulders, lower back and thighs in someone whose weight has not changed;
- the membrane around the spinal cord widened in the lumbar region (dural ectasia), which causes a dull low back ache and a headache that worsens on standing and eases on lying down.
The reverse is also worth saying: a tall, slim teenager with long fingers is not in itself grounds for a diagnosis. In Marfan syndrome the signs come as a set and almost always involve the eyes or the heart, not build alone.
What happens to the eyes
The ligaments that hold the lens in place are made of the same fibrillin. In about half of people with the syndrome the lens slips out of position, most often upwards. Vision becomes double or blurred, glasses are hard to prescribe, and the image shifts with the position of the head.
Besides a displaced lens there may be severe short sight that starts early and progresses fast, glaucoma and cataract at an age when neither is yet expected, and retinal detachment: the Marfan eye is elongated, so the retina is stretched more tightly than usual.
An eye examination with dilated pupils and a slit lamp is therefore needed both at diagnosis and yearly afterwards. Flashes of light, a sudden shower of floaters or a dark curtain creeping in from one side mean seeing an eye specialist the same day rather than waiting for a routine appointment.
The heart and the aorta, the reason for all this monitoring
The aorta leaves the heart and carries blood to the whole body, and its first stretch, the aortic root, takes the force of every beat. In Marfan syndrome the wall there is yielding and gradually widens. A dilated aorta neither hurts nor interferes with daily life until dissection happens: the layers of the wall separate, and that is life-threatening within hours.
The second common finding is mitral valve prolapse, where the leaflets bulge and let blood leak backwards, causing breathlessness on exertion and palpitations. The aortic valve may start to leak as the root widens, and the left ventricle then enlarges over time.
On an echocardiogram the diameter of the aortic root is not compared with a single general figure but with what is expected for that height, weight and age, and what decides matters is less the number itself than how fast it grows from year to year. Blood pressure is kept down alongside: the lower the load on the wall, the slower it stretches.
When to call an ambulance
These signs need emergency help straight away rather than watching at home:
- sudden very severe pain in the chest or between the shoulder blades, usually described as tearing or ripping, which may move into the back or the abdomen and come with cold sweat, pallor or collapse — this is how aortic dissection presents;
- sudden breathlessness with a sharp pain in one side arising at complete rest — Marfan syndrome carries a raised risk of spontaneous pneumothorax, in which a lung collapses;
- sudden weakness or numbness of the arm and leg on one side, a drooping face or slurred speech — a dissection can block the vessels supplying the brain;
- loss of consciousness, or a marked difference in pulse or blood pressure between the right and left arm.
In Spain, Italy, Portugal, Poland and Ukraine an ambulance is called on the single European number 112; elsewhere use your national emergency number. Say the diagnosis plainly. The words "Marfan syndrome, chest pain" change where the patient is taken, because this needs a hospital that can perform CT angiography and operate on the aorta.
How the diagnosis is made
The diagnosis is assembled from several pieces rather than one test. The doctor examines and measures the patient and asks about relatives: sudden deaths in young people, aortic surgery, displaced lenses.
Then the dangerous places are checked: echocardiography, an eye examination with a slit lamp, MRI or CT angiography of the whole aorta (an echocardiogram sees only its beginning), and MRI of the lumbar spine if dural ectasia is suspected. Genetic testing looks for the change in the FBN1 gene and is especially useful when the picture is incomplete or when relatives are being assessed.
The findings are then weighed against international criteria: a dilated aortic root together with a displaced lens confirms the diagnosis on its own, while in other cases a score of systemic features is counted or the identified gene change is used alongside the family history.
A separate task is telling Marfan syndrome apart from lookalike conditions: Loeys-Dietz syndrome, the vascular type of Ehlers-Danlos syndrome, Beals syndrome and homocystinuria. Looking for the last of these matters particularly, because it also displaces the lens but is treated in a completely different way and responds to diet and vitamins. Parents, brothers, sisters and children are offered assessment whether or not they have symptoms.
What follows: monitoring and treatment
The gene cannot be corrected, so all the effort goes into making the aorta grow slowly and catching complications early. The mainstay is medication that reduces the load on the aortic wall: beta blockers and angiotensin II receptor blockers. They are prescribed long term, often from childhood, with the dose adjusted to pulse rate and blood pressure.
Surgery on the aortic root is planned in advance, before the risk of dissection becomes high. A planned operation is tolerated far better than an emergency one, and in many cases the person's own valve can be kept and only the widened section of vessel replaced. The timing is chosen from the diameter, the rate of growth and the family history.
Everything else is treated as it appears. Scoliosis in a growing child is held back with a brace and operated on if the curve is large. A sunken chest is corrected when it crowds the heart and lungs. A displaced lens is removed and an artificial one fitted, glaucoma is treated with drops or laser, and retinal tears are sealed with laser. The patient is looked after by a team — cardiologist, eye specialist, orthopaedic surgeon and geneticist — with one of them coordinating the rest.
Everyday life: what suits and what to avoid
Steady aerobic activity is good for you and is not forbidden: walking, cycling on level ground, easy swimming, housework and gardening. The rule of thumb is simple — you should be able to hold a conversation while you move.
What does not suit are efforts that spike the blood pressure or hit the chest:
- lifting weights to failure and strength work done while holding the breath;
- competition and sprinting, where effort goes to the limit;
- contact sports such as martial arts, rugby and football;
- scuba diving and jumping from a height, because of pressure changes and the risk of pneumothorax.
Giving up smoking is worth it: tobacco damages vessels and markedly raises the risk of spontaneous pneumothorax. Decongestant nose drops and tablets, large doses of caffeine, energy drinks and any stimulant push the blood pressure up and are better avoided. Tell your doctor about antibiotics from the fluoroquinolone group: they have been linked to a higher risk of aortic dissection, and in Marfan syndrome another class is usually chosen. Carry something that states your diagnosis; in an emergency it saves time.
Pregnancy and having children
The chance of passing the syndrome on is one in two with every pregnancy. A geneticist goes through the options and explains what testing does and does not tell you. A baby can be checked before birth by chorionic villus sampling at the end of the first trimester or by amniocentesis in the second, taking a little of the amniotic fluid that surrounds the baby inside the womb. With in vitro fertilisation embryos can be tested before transfer. None of these will say how severe the syndrome will be: even brothers and sisters differ.
Pregnancy itself is a separate matter. Blood volume rises, the heart works harder and the load on the aorta increases; the risk of dissection is highest in the third trimester and in the first weeks after delivery. That is why an echocardiogram is done before conceiving rather than afterwards: if the aortic root is already widened, surgery beforehand is discussed. Through the pregnancy a cardiologist and an obstetrician follow the woman together, and the place of delivery is agreed in advance. Beta blockers are usually continued, whereas angiotensin receptor blockers are stopped, since they are contraindicated in pregnancy and must be swapped before conception rather than once a test is positive.
Online consultation with a doctor
An online appointment suits the part of this that is about understanding and planning rather than examining. A doctor can pull scattered findings into one picture, say which tests to start with and which specialist to see, go through an echocardiogram report or a genetic result with you, and explain what the aortic diameter figures mean. A frequent topic is what exercise suits you and how to discuss the diagnosis with a school, a coach or an employer. Upload your reports and test results beforehand so the conversation stays concrete. For sudden severe chest or back pain an online appointment is the wrong route: call an ambulance.
This material is for information only and does not replace medical advice.
Consult with a doctor about Marfan syndrome
Discuss your symptoms and possible next steps with a doctor online.
Online doctors for Marfan syndrome
Discuss your symptoms and possible next steps for Marfan syndrome with a doctor online.
