Early Onset Marfan Syndrome; Infantile Marfan Syndrome; Neonatal MFS; NMFS

Marfan syndrome is a genetic disorder that changes the proteins that help make healthy connective tissue. This leads to problems with the development of connective tissue, which supports the bones, cartilage, tendons, muscles, and organs such as the heart, lungs, and skin. Marfan syndrome is caused by mutations in the FBN1 gene. Neonatal Marfan syndrome (NMFS) is a rare, severe, and life-threatening form of Marfan syndrome. It is evident in early infancy and shows rapid progression during early childhood. Neonatal Marfan syndrome has more severe clinical features and a poorer prognosis than MFS.

Diagnostic testing: NMFS diagnosis occurs during infancy and early childhood. The diagnosis of NMFS is made by:

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  Physical examination;

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  Family history;

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  Eye examination;

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  Genetic testing;

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  Transesophageal echocardiogram (TEE);

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  Electrocardiogram (EKG);

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  Echocardiogram;

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  Magnetic resonance imaging (MRI);

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  Computed tomography (CT) scan; and

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  Chest x-ray.

Physical findings: Symptoms of NMFS include:

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  Pulmonary disease (such as emphysema or spontaneous pneumothorax);

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  Abnormal facial appearance;

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  Eye problems such as nearsightedness;

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  Crowding of teeth;

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  Tall, thin body;

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  Abnormally shaped chest;

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  Long arms, legs, and fingers;

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  Laxity of joints;

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  Curved spine;

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  Flat feet;

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  Poor healing of wounds or scars on the skin;

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  Dilation of the aortic root (the initial part of the aorta as it arises from the left ventricle);

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  Tricuspid valve regurgitation; and

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  Mitral valve regurgitation.

ICD-9: 759.82

ICD-10: Q87.40

Children diagnosed with NMFS have a high mortality rate in first two years of life. However, every child with NMFS is different, and the prognosis depends on each individual’s combination of features and the severity of each component.

There is no cure for NMFS. Doctors use treatments to relieve symptoms and prevent additional problems or complications. Treatment depends on the area of the body affected by the syndrome and may include may include opthalmologists (eyes), orthopedists (bones and joints), and cardiothoracic surgeons (heart, lungs, and other organs and tissues in the chest).

Suggested MER for Evaluation:

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  Physical examination;

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  Family history;

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  Eye examination;

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  Genetic testing;

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  TEE;

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  EKG;

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  Echocardiogram; and

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  Imaging studies such as MRI, CT scan, and chest x-ray.

Suggested Listings for Evaluation:

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