A to Z of syndromes

A-Z of syndromes: Marfan syndrome

Disorders and diseases with common symptoms that constitute syndromes.

Disorders and diseases with common symptoms that constitute syndromes.

Picture: SPL

Marfan syndrome is a genetic disorder affecting the formation of the connective tissue. The syndrome is named after the French paediatrician Antoine Marfan.

It can be caused by a new genetic mutation, but is more commonly inherited as an autosomal dominant trait, which means only one copy of the affected genes transmitted from a parent is required to cause the disorder. Both sexes are equally affected and it can be found in all races.

As with most syndromes there is a high degree of clinical variability, and the signs and symptoms are associated with organs and tissues that contain high proportions of connective tissue. The most severe problems are cardiovascular malformations, including aortic aneurysms. 

Individuals with Marfan syndrome are tall, slender and may have hypermobile joints but are prone to skeletal deformities, such as thoracolumbar scoliosis, thoracic lordosis and sternal pectus excavatum. The thoracic cage abnormalities may lead to respiratory difficulties. 

Typical features include a long, thin face and a high-arched palate. More serious features include ocular and ophthalmic anomalies, which may lead to glaucoma, retinal detachment and cataracts. 

The intellect is not affected and most children can lead healthy, productive and satisfying lives. Appropriate management has extended life expectancy greatly.


There is no cure and treatment is individually tailored to address the specific requirements of the individual child.

The children’s nurse should see the child, not the condition; normalise, not medicalise.

As there are risks of serious associated abnormalities, comprehensive follow-up examinations on an annual basis are recommended. These should include ocular assessments to check for dislocation of the lens, as well as repeat electrocardiograms and echocardiograms to check for problems with the mitral valve or aorta.

Physiotherapy or remedial gymnastic exercise and non-weight bearing sports, especially swimming, should be encouraged. Many individuals use their height and reach to advantage, and excel at basketball, volleyball or tennis. Contact sports, such as rugby, and sports that place abnormal strain on the joints, such as weightlifting, should be avoided.  

From a psychological perspective, being especially tall can affect children’s posture, confidence and self-esteem.   

Case study

Marie (not her real name) was the third child of professional parents. The pregnancy was uneventful, she was born a long infant but was a good weight.

During an initial baby check it was found she may have a heart murmur. A paediatrician recommended an echocardiogram, which confirmed that the murmur was caused by a mitral value prolapse. Marie was then transferred to a large children’s hospital for assessment and ongoing management.

Her family were stunned at the news, her siblings began missing their parents and the grandparents were struggling to cope. Long telephone conversations led to Marie’s siblings visiting the hospital to meet and cuddle her, and to have a session with a playworker experienced in dealing with sibling trauma.

Maria underwent a range of other cardiac investigations, including 12-lead electrocardiography, cardiac catheterisation and 3D echocardiography, which built up a clearer picture of the defect. Breastfeeding was not well established and Maria was breathless during feeding, which is symptomatic of early cardiac failure. It was decided that surgery should take place as quickly as possible.

The congenital hearts team looked at some of Maria’s facial characteristics and her blood was taken for genetic analysis, which strongly suggested Marfan syndrome. The priority was cardiac surgery, which has a good prognosis, and a range of other investigations were planned for when she recovered from surgery.

Further resources

About the authors

Doreen Crawford is nurse adviser with consultancy Crawford McKenzie and Annette Dearmun is divisional head of nursing and clinical governance, Oxford University Hospitals NHS Trust. Both are consultant editors of Nursing Children and Young People

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