Pediatric Marfan Syndrome

What is Pediatric Marfan syndrome?

Marfan Syndrome is a heritable, multisystem disorder of the body’s connective tissue. Connective tissue holds all the body’s cells, tissues and organs together. The main functions of connective tissue are support, protection and transporting substances within the body. These tissues are vital in growth and development before and after birth. Marfan syndrome mainly affects the ocular (eyes), musculoskeletal and cardiovascular (heart and blood vessels) systems.

Neonatal Marfan syndrome is a term used to describe children who have distinct features at the time of birth and have cardiovascular abnormalities in their early infancy.

Occurrence

Marfan syndrome is seen in 1 in 5000 people. There is no gender discrimination and this syndrome is seen in all races and ethnic groups.

Causes of Pediatric Marfan syndrome

Mutations (defects) in FBN1 gene is thought to be responsible for Marfan syndrome. This gene codes for a protein called fibrillin. Fibrillin is a glycoprotein that is necessary for the formation of elastic fibers in the connective tissue. Mutation in FBN1 leads to an increase in a protein called transforming growth factor beta (TGFb).  The high levels of TGF beta affect the connective tissue. Since connective tissue spreads throughout the body, many organs like heart, lungs and eyes are affected.

Inheritance pattern

Marfan syndrome is an autosomal dominant disease. In 75% of the cases, the abnormal or mutated gene is inherited from the affected parent. In 25% of the cases, there will be spontaneous genetic mutations, which mean the child will themselves carry a gene mutation without having an affected parent. The children born to unaffected parents have a 50% risk of passing the gene to the next generation.

Paternal (father) age is thought to play a role in Marfan syndrome. Men who are more than 45 years of age have a higher chance of being affected with this gene mutation than others.

Symptoms of Pediatric Marfan syndrome

A child with pediatric Marfan syndrome can have the following features:

• Abnormal facial appearance
• Long arms, legs, fingers and toes
• Long, narrow face
• Tall and thin body type
• Flexible joints
• Short torso
• Curved spine
• A chest that sinks in or out  
• Eye problems, like nearsightedness or a dislocated lens
• Crowded teeth
• Flat feet
• Stretch marks on the skin that are not related to weight gain or loss

Some of the adverse symptoms include enlargement of the aorta, mitral valve prolapse and collapsed lung.

 

Diagnosis of Pediatric Marfan syndrome

A detailed family history and complete physical examination will be done. The following tests will be done to check the abnormalities in the heart, eyes and bones.

Electrocardiogram (ECG): This test records the electrical activity of the heart. Signs of any abnormal rhythms and damages in heart muscles are detected.

Echocardiography: This test is to capture the size of the aorta and determine the function of heart valves.

CT or MRI scans to check for abnormal bones and joints.

Complete eye examination to look at the interior of the eye.

Gene mutations: A blood sample will be drawn to check for mutations in FBN1 gene and also linkage study will be done to track the gene in the family. Prenatal gene testing can be done through amniocentesis during 16-18 weeks of pregnancy, but the intensity of the syndrome cannot be determined.

Treatment of Pediatric Marfan syndrome

Early initiation of treatment helps in preventing the complications. Since this syndrome is a multisystem disorder, treatment will be based on the existing symptoms.

The most serious complication involves the heart which is treated by medications like beta blockers and angiotensin II blockers. These medicines help in lowering the child’s blood pressure and reduce stress on the aorta. Affected aorta and heart valve dysfunctions are repaired through surgery.

Marfan syndrome can lead to a variety of eye problems like dislocated lens, nearsightedness, early glaucoma, early cataracts or a detached retina. Some of the issues are corrected by the usage of contact lenses and glasses. For dislocated lens and cataract, surgery is recommended.

Bone and joint problems require braces, therapy, or surgery.

Helping a child live with Marfan syndrome

Children with Marfan syndrome have normal intelligence and are expected to live long. These children should not take part in strenuous activities like weightlifting.

Treatment options are getting refined day by day. Parents are advised to work with a team of healthcare providers promptly.