Neonatal Marfan Syndrome

Neonatal Marfan syndrome is a rare genetic disorder with multiple life-threatening symptoms. It is also known as infantile Marfan syndrome. This syndrome usually becomes evident during early infancy with a rapid progression during childhood. There are no specific criteria to describe this characteristic term for this disease. It shows the typical features of Marfan syndrome but during the I fancy period.

This article explains the essential details about the striking features of neonatal Marfan syndrome. Stay connected with the article to get the detailed information related to this disease.

What are the characteristic symptoms of neonatal Marfan syndrome to differentiate from other diseases?

Every disease exhibits specific symptoms and specific effects on multiple body systems. Syndromes are usually a combination of various symptoms affecting multiple organs at the same time. The most visible signs of the syndrome are as follows:

• Long extremities with fingers
• Flexion contractures and joint laxity
• Characteristic facial appearance with downward slanting eyes or crumpled ears
• Redundant, loose skin giving a senile facial look
• Breathing problems
• Poor feeding
• Glaucoma or enlarged cornea (megalocornea)
• Regurgitation of mitral or tricuspid valves or severe prolapse
• Pulmonary emphysema

Neonatal Marfan syndrome may be of a milder type. The milder symptoms are as follows:

• Pectus deformity – protruding or indented chest
• Scoliosis – curved back
• Aortic root dilatation
• Nearsightedness
• Eye lens dislocation

Neonatal Marfan syndrome lies at the peak severe end of the spectrum of Marfan syndrome. The severity of this syndrome varies and depends on the complexity of the above-mentioned symptoms.

What are the common causes of neonatal Marfan syndrome?

Neonatal Marfan syndrome is a genetic disorder with any underlying mutation in the DNA material. It usually occurs due to the mutation of the FBN1 gene, present on chromosome 15. This gene encodes the protein fibrillin-1. Mutation of the entire length of this gene can cause the syndrome. In addition, these mutations mostly form a cluster in exons 23-32 of the gene. Moreover, it can also arise due to the mutations arising outside this region.

Some studies suggest that mutation on exons 25 and 26 are linked with a decreased survival rate of children diagnosed with the syndrome.

How can we diagnose neonatal Marfan syndrome?

The diagnosis of this syndrome is based mainly on the musculoskeletal, craniofacial, and skin-related disorders visible at the time of birth. Extreme outward facial features at the time of birth are indicative of this disorder. Neonates with this syndrome have abnormal heart murmurs with regurgitation of valves. In addition, a doctor may notice any breathing difficulty due to the floppiness or compression of airways due to vascular enlargement. Moreover, there may be a congestion of fluid in the lungs due to the pathologic functioning of the heart muscle.

Feeding difficulties may be due to abnormal angulation of the palate associated with swallowing problems. Previously, the mortality rate from the syndrome was higher in the early years due to poor response to therapies. These are the main features that indicate the presence of neonatal Marfan syndrome.

Is there any diagnostic test to confirm this syndrome?

Genetic testing is possible for the confirmation of neonatal Marfan syndrome. It shows a specific mutation in the central area of the FBN1 gene that encodes protein fibrillin 1. Mutation testing can be helpful to diagnose the syndrome. But, it is not sufficient for the confirmation of the syndrome. Genetic testing is readily available to confirm the suspicion of the syndrome. Any geneticist or cardiologist who has specialized in this disorder can perform genetic testing.

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What is the treatment plan for neonatal Marfan syndrome?

For better treatment, it is important to diagnose the disease at the initial stages. The earlier it is diagnosed, the better the prognosis.

Regurgitation of heart valves

Regurgitation is known as valve leakage. The first treatment strategy includes the management of valve leakage to improve ventricular function. Beta-blockers, angiotensin-converting enzyme inhibitors, and angiotensin receptor blockers are commonly used for valve leakage. Moreover, if heart failure is because of fluid loss, diuretics are added to avoid the elimination of fluid through the kidneys.

Heart failure

The build-up of fluid in the lungs can be a leading cause of heart failure in the syndrome. It is also associated with breathing difficulty, poor feeding, weight gain, and difficulty in lying flat. Such patients are usually the optimum option for a heart transplant to improve long-term outcomes.

Aortic enlargement:

Treatment plans for neonatal Marfan syndrome include the reduction of aortic dilatation to avoid the risk of aortic dissection. In younger children, aortic enlargement is quite severe. Beta-blockers and angiotensin receptor blockers are mainly used for this purpose. Echocardiography and MRI are regularly to closely monitor the size and function of the aorta.

Breathing problems

Breathing problems may be because of general weakness or floppiness of the airways. The use of supplemental oxygen and other breathing supports can help to get over the breathing problems.

Eye problems

For rare cases, an ophthalmologist guide is important to treat different eye problems. These eye problems can lead to blindness. For these cases, surgery may be needed.

What are the special indications for surgery in neonatal Marfan syndrome?

Surgical procedures in neonates are quite complex and require expertise to deal with the problems. Here are some special considerations to carry out any surgical procedure.

• Heart surgery in neonatal Marfan syndrome is quite complex and associated with increased morbidity and mortality rates.
• Heart function may indicate sudden worsening after surgery. It takes time of weeks or months to improve the condition following the treatment plan.
• The presence of extracardiac problems like lung disease, muscle weakness, scoliosis, and diaphragm abnormalities can complicate heart surgery.

A multidisciplinary specialist team should make a careful consultation to follow the treatment plan. The specialist team includes a pediatric cardiologist, cardiothoracic surgeon, geneticist, ophthalmologist, and proper nursing team.

Conclusion

Neonatal Marfan syndrome is a congenital disorder present at the time of birth. It is a complex of symptoms related to different body organs. Heart abnormalities, respiratory problems, feeding difficulties, and several other problems are part of this syndrome. It is important to diagnose the syndrome at the initial stages for better treatment protocols. But, the prognosis for neonatal Marfan syndrome is quite poor with increased morbidity and mortality rates.

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