Marfan Syndrome Symptoms In Children

Introduction

What is Marfan syndrome?

Marfan syndrome is a genetic disorder that affects the connective tissues in the body. Connective tissue is tough, fibrous tissue that binds and holds the cells, other tissues and organs together providing structure and adequate support.¹

Overview of Marfan syndrome 

Marfan syndrome is a relatively rare hereditary genetic disorder caused by an abnormal gene. The mutations happen in a gene that codes for a protein called fibrillin. Fibrillin is responsible for maintaining the strength of connective tissues.²

The weakening of fibrillin affects the bones, joints, eyes, lungs, heart, blood vessels, and central nervous system (brain and spinal cord) causing a wide range of symptoms and abnormalities throughout the body in general.

This genetic condition isn't one-size-fits-all; it varies from person to person. These can include unusually tall height, long limbs, and flexible joints, but also more serious issues like heart valve problems or weakened blood vessels. Understanding Marfan syndrome might seem tricky, but it's really important for taking good care of a child who has it.

Symptoms of Marfan syndrome in children

Skeletal features

• Unusually tall stature
• Long limbs disproportionate to the body, long fingers and toes³
• Sunken or protruding chest³
• Hypermobile joints
• Flat feet³
• Curved spine (scoliosis): Marfan syndrome increases the likelihood of spinal deformities like scoliosis and can disrupt the usual growth of ribs, leading to either a protruding or sunken breastbone. Children with Marfan syndrome often experience frequent foot and lower back discomfort

Cardiovascular symptoms

• Mitral valve prolapse: This means that the valve controlling blood flow between the upper and lower chambers of the heart doesn't close properly, which can lead to the leakage of blood backwards
• Aortic root dilation: The main blood vessel leaving the heart (aorta) may widen or bulge, which can weaken the vessel walls and increase the risk of serious complications like a tear (aortic dissection) or rupture³
• Increased risk of aortic dissection: This is a severe condition where there's a tear in the inner layer of the aorta, which can lead to life-threatening bleeding³
• Valve regurgitation: It refers to a condition where the heart valves don't close tightly, allowing blood to leak backwards

Eye symptoms

• Nearsightedness
• Dislocated lenses⁴
• Risk of retinal detachment⁴

Developmental symptoms

• Rapid growth spurts during adolescence
• Atypical growth patterns compared to peers
• Delayed bone age

Connective tissue manifestations

• Stretch marks³
• Soft and velvety skin texture³
• Increased risk of hernias due to weakened connective tissue

Diagnosis

Medical evaluation

Doctors start by talking to you and your family about your medical history and giving a thorough check-up. They'll look at things like your child’s bones, heart, and eyes to see if there are any signs of Marfan syndrome.

Diagnostic tests

Echocardiogram: During an echocardiogram, sound waves (ultrasound) are used to create detailed images of the heart's structure and function. One of the main concerns in Marfan syndrome is the dilation or widening of the aorta, the large blood vessel that carries blood away from the heart. An echocardiogram allows healthcare providers to measure the size of the aorta accurately and monitor any changes over time. This helps in the early detection of aortic enlargement.⁴

CT scans: CT scan is often used to obtain detailed images of the aorta and its branches. It provides high-resolution images that help in accurately measuring the size of the aorta and detecting any abnormalities. CT scans can also be used to assess skeletal abnormalities associated with Marfan syndrome, such as spinal curvature (scoliosis) or abnormalities in bone structure.⁴

MRI scans: MRI is particularly useful for imaging soft tissues, such as the heart and blood vessels. It can also visualize abnormalities in connective tissue throughout the body.⁴

Eye tests

• Slit lamp exam: This helps doctors look closely at the eye's structures to check for things like lens dislocation⁴
• Eye pressure test: This measures the pressure inside the eye, which can indicate if they're at risk of glaucoma⁴
• Eye back exam: Doctors use a special tool to check the back of the eye for problems like retinal detachment

Genetic testing

Doctors take a small sample of blood or saliva and look for changes in a specific gene called FBN1. Finding a change in this gene confirms the diagnosis of Marfan syndrome. This test can also help other family members understand their risk of having the condition. It's essential to talk with a genetic counsellor to understand the results and what they mean for your child’s health.¹

Differential diagnosis

Differential diagnosis for Marfan syndrome involves distinguishing it from other conditions that share similar symptoms. Doctors compare the symptoms of Marfan syndrome with those of other conditions to make sure they're diagnosing the right thing. Some conditions, like Ehlers-Danlos syndrome, Loeys-Dietz syndrome, and Shprintzen-Goldberg syndrome have symptoms similar to Marfan syndrome.⁵ Sometimes, special tests or exams may be needed to rule out these other conditions and confirm Marfan syndrome.

Treatment and management

• Medications: Depending on the symptoms, the doctor may prescribe medicines to handle cardiovascular problems, like beta-blockers to ease pressure on the heart or drugs to control blood pressure
• Surgical procedures: Sometimes, surgery is necessary to fix or replace aortic valves, correct skeletal issues such as scoliosis, or tackle other problems linked with Marfan syndrome
• Eye care: Getting regular eye exams is crucial to monitor and handle any eye-related problems associated with the syndrome, such as lens dislocation or retinal detachment
• Lifestyle changes: Adopting a healthy lifestyle, including regular exercise, and a balanced diet, can help enhance overall well-being and lower the risk of complications
• Genetic counseling: Children with Marfan syndrome and their families might find it helpful to talk to a genetic counsellor to understand the inherited nature of the condition and make informed choices about family planning
• Emotional support: Living with a chronic condition like Marfan syndrome can be tough, so seeking support from healthcare professionals, support groups, or counselling services can help manage emotional well-being and deal with the impact of the condition on daily life

Prognosis

Nowadays, people with Marfan syndrome can live just as long as those without it, which is great news. However, heart problems are still the most common reason for death. This can happen suddenly, especially if someone hasn't been diagnosed with Marfan syndrome or if their condition has become too severe for treatment. It's important for people with Marfan syndrome to get regular check-ups and stay on top of their health to catch any issues early.⁵

FAQs

How does Marfan syndrome affect the body in children?

Marfan syndrome can cause various symptoms, including tall height, long limbs, spine curvature, heart problems, and eye issues.

Can Marfan syndrome be cured?

There's no cure for Marfan syndrome, but treatments can help manage symptoms and improve quality of life.

How is Marfan syndrome diagnosed in children?

Doctors diagnose Marfan syndrome based on physical exams, family history, and sometimes genetic testing to look for specific gene changes.

What treatments are available for Marfan syndrome?

Treatment may include medications to manage symptoms, surgeries to correct certain problems like heart issues or spine curvature, and regular check-ups to monitor overall health.

What's the outlook for a child with Marfan syndrome?

With proper medical care and lifestyle adjustments, many people with Marfan syndrome can lead full and active lives. It's important to stay informed, follow doctors' advice, and get regular check-ups to stay healthy.

Summary

Marfan syndrome is a genetic disorder affecting connective tissues, crucial for the body's structure and support. It's caused by changes in a gene that helps our tissues stick together. These tissues are important because they give our body structure and support.

Marfan syndrome can affect lots of parts of our body, like our bones, joints, eyes, heart, and blood vessels. In children, Marfan syndrome shows up in different ways. They might be taller than other kids, with long arms and legs.

Sometimes, their backs might curve a bit. They might also have trouble with their heart valves, blood vessels, or eyes. Some kids with Marfan syndrome also grow fast and might have stretch marks or soft skin.

To find out if someone has Marfan syndrome, doctors do special tests like taking images of the heart and eyes and checking their genes. They want to make sure it's Marfan syndrome and not something else.

Managing Marfan syndrome means taking medicine, sometimes having surgery, and making healthy choices. It's also important to get support from genetic counsellors. Even though it can be tough, with the right care, kids with Marfan syndrome can still do all the things they love. But it's essential to see the doctor regularly to catch any problems early.