Marfan Syndrome Rate of Babies Born With Marfan Syndrome

What is Marfan syndrome?

Marfan syndrome is a disorder involving the body's connective tissue. Connective tissue has many important functions, including the following:

Assisting with growth and evolution of the trunk's cells, both before and after birth
Supporting tissues in the body
Interim as an adhesive to agree sure tissues together
Protecting joints
Facilitating the passage of light through the centre

A defective (FBN1) factor associated with Marfan syndrome affects the formation of a protein in connective tissue called fibrillin. This impacts many organs and structures in the body. Organs and body systems that can be impacted include:

Heart and major blood vessels
Lungs
Skeletal system
Spinal cord
Optics
Pare

Marfan syndrome occurs in equal numbers in males and females, and too appears every bit in all races and ethnic groups.

What causes Marfan syndrome?

Marfan syndrome is acquired past an abnormality (or mutation) in one specific cistron (FBN1). Up to 75 percent of the time, this mutated cistron is inherited from a parent who is affected.

Almost 25 percentage of the fourth dimension, cases are thought to be acquired by new mutations in the family (non inherited from a parent). Scientists have noted that offspring of fathers who are older (than the norm) at the fourth dimension of conception may be afflicted by this cistron mutation more than oftentimes than others. Mutations can occur sporadically (by hazard) in the sperm of older men (over 45 years) who father children. These "point mutations" tin can result in Marfan syndrome, or other disorders, depending on which cistron is accidentally altered.

Marfan syndrome is an autosomal ascendant disorder. This ways that each offspring of an afflicted parent will have a 50 pct chance of too beingness born with the disorder. Similarly, when a child is built-in with Marfan syndrome to unaffected parents, the child volition have a l per centum risk of passing the cistron on to the next generation.

Why is Marfan syndrome a business?

Children with Marfan syndrome are at risk for serious problems involving the cardiovascular organisation, including the post-obit:

Mitral valve prolapse. An abnormality of the valve between the left atrium and left ventricle of the heart that allows backward flow of claret from the left ventricle into the left atrium.
Arrhythmia (or dysrhythmia). A fast, slow, or irregular heartbeat.
Aortic regurgitation. Backwards leakage of blood from the aorta, through a weakened aortic valve, and into the left ventricle, resulting in stress in the left eye and inadequate blood flow to the trunk.
Aortic dilation and dissection. Enlargement and weakening of the layers inside the aorta, which can result in tears in the aortic wall and leakage of blood into the chest or abdomen; a medical emergency.

What are the symptoms of Marfan syndrome?

A deficiency of fibrillin in connective tissue creates the abnormalities in organs and body structures that may be seen with Marfan syndrome. An extensive list of abnormalities tin occur with the disorder; just symptoms listed as "major criteria" are listed below. Other symptoms may be noted that contribute to the certainty of the diagnosis. Each child may experience symptoms differently. Symptoms may include:

Heart and claret vessels
Dilation of the aorta
Leakage of the aortic valve (aortic regurgitation)
Tears in the aorta (aortic autopsy)
Skeletal
Deformities of the breastbone
Scoliosis, which is a sideways curvature of the spine, or kyphosis, which is a round curvature of the spine that can give the appearance of a hunchback
Misalignment of sure bones
Joint contractures
Unusual long arm span
Long fingers and toes
Eye
Dislocation of the lens (the transparent structure inside the heart that focuses light rays onto the retina)

The symptoms of Marfan syndrome may resemble other problems or medical conditions. Always consult your child's health care provider for a diagnosis.

How is Marfan syndrome diagnosed?

In addition to a complete medical history and physical examination, your kid'due south health care provider may complete a family unit medical history to await for other family unit members with known Marfan syndrome or some of the characteristics of the disease.

Other diagnostic tests for Marfan syndrome may include the post-obit:

Electrocardiogram (ECG). A exam that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias), and detects heart muscle impairment.
Echocardiography (echo). A procedure that evaluates the structure and function of the middle by using audio waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.
Complete eye examination. An test of the interior of the eye, performed by an ophthalmologist, using a device called a slit lamp.
X-ray. A diagnostic test which uses invisible X-ray beams to produce images of internal tissues, basic, and organs onto film.
DNA studies. A blood sample sent to the genetics lab can analyze the FBN1 gene to determine whether a mutation is present; not all mutations in the fibrillin factor cause Marfan syndrome. Similarly, non all persons with Marfan syndrome have a mutation in this cistron. Sometimes, a blazon of Dna study chosen a linkage written report, which examines the Dna of several family members, can aid in tracking the gene in the family unit. However, because of these limitations, the diagnosis of Marfan syndrome is primarily based on clinical findings.

In order to exist diagnosed with Marfan syndrome, your child must exhibit several characteristics from a detailed listing. Your child needs to accept a significant number of the symptoms on the checklist in club to be diagnosed with the disorder. Your child'south health care provider volition make the diagnosis based on medical and family history and other factors, as well every bit symptoms your kid may exhibit.

Marfan syndrome may exist easier to diagnose as children age, as many of the features of the disorder become more than obvious as your child grows.

Treatment for Marfan syndrome

Specific treatment for Marfan syndrome will be determined by your child's health care provider based on:

Your child'southward age, overall health, and medical history
Extent of the disorder
Your child'southward tolerance for specific medications, procedures, or therapies
Expectations for the course of the disease
Your opinion or preference

At the present fourth dimension, there is no cure for the disorder. Treatment is based on determining which organ systems are afflicted and managing the problems that arise. Recommendations for managing Marfan syndrome may include the following:

An annual echocardiogram, or echo (to monitor the heart and aorta)
Periodic heart exams past an ophthalmologist
Monitoring of the skeletal system for abnormalities (such as scoliosis) that can be noted in childhood or adolescence
Lifestyle adjustments (to reduce the risk of injury to the aorta, such equally avoiding contact sports or stressful practise)

Genetic counseling is important for people who take Marfan syndrome and are planning to have a family unit. If one parent has the disorder, in that location is a 50% take a chance, with each pregnancy, for a kid to besides have Marfan syndrome. In addition, women with Marfan syndrome who go pregnant have pregnant risks for their health during pregnancy, due to the added stress that a pregnancy puts on the heart and aorta. Women with Marfan syndrome should consult with their health care providers earlier pregnancy to determine if pregnancy is safe for them.

Long-term outlook for a kid with Marfan syndrome

Centre and blood vessel issues pose the largest threat to a person with Marfan syndrome, which emphasizes the importance of regular evaluation by your child'south wellness care provider. Consult your kid'due south health care provider for more information regarding the specific outlook for your child.

With advances in the diagnosis, evaluation, and direction of the organ abnormalities associated with Marfan syndrome, the life expectancy for a person with the affliction has nearly doubled in the by 25 years. Today, individuals with Marfan syndrome tin can await to live well-nigh seventy years or more.

For women with Marfan syndrome, pregnancy and childbirth pose significant risks. These women should be evaluated with echocardiography prior to becoming pregnant. Other diagnostic imaging procedures, such as computed tomography angiography (CTA) or magnetic resonance angiography (MRA), may exist used to assess risks. Cesarean delivery (C-section) is generally recommended for significant women with Marfan syndrome to prevent strain on the aorta and decrease the hazard of aortic dissection during labor.

Children's Team

Providers

Marshall Summar

Division Chief, Genetics and Metabolism
Director, Rare Disease Constitute

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Source: https://childrensnational.org/visit/conditions-and-treatments/genetic-disorders-and-birth-defects/marfan-syndrome