Medicines for Marfan syndrome

What it is

Marfan syndrome is an inherited condition that affects connective tissue, the material that supports and holds together the body's structures. People with Marfan syndrome are often tall and slim with long arms, legs, fingers and toes, and may have a curved spine, chest that sinks in or sticks out, flexible joints, and eye problems (such as a dislocated lens or short-sightedness). The most important concern is the heart and the aorta (the main artery), which can weaken and widen over time, risking a serious tear (aortic dissection) — which is why heart monitoring is central. It is caused by a gene change and runs in families, though it can also occur without a family history. Diagnosis involves specialist assessment, heart and eye checks, and sometimes genetic testing.

How it is treated

There is no cure, so care focuses on monitoring and protecting the affected systems, particularly the heart and aorta, allowing problems to be treated before they become dangerous. This includes regular heart scans (echocardiograms) to watch the aorta, medicines to reduce strain on it, and, when it widens beyond a safe point, surgery to repair or replace the affected section — which is often preventive and life-saving. Advice on avoiding intense or contact sports that strain the aorta is important. Eye and skeletal problems are managed by the relevant specialists. Family members may be offered assessment and genetic counselling. Care is coordinated by a specialist multidisciplinary team.