NEONATAL MARFAN SYNDROME
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ALTERNATE NAMES
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Early Onset Marfan Syndrome; Infantile Marfan Syndrome; Neonatal MFS; NMFS
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: NMFS diagnosis occurs during infancy and early childhood. The diagnosis of NMFS is
made by:
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Transesophageal echocardiogram (TEE);
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Magnetic resonance imaging (MRI);
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Computed tomography (CT) scan; and
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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Long arms, legs, and fingers;
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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
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PROGRESSION
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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.
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TREATMENT
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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).
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Imaging studies such as MRI, CT scan, and chest x-ray.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTINGS
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REMARKS
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Meets
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104.02
104.06
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Equals
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*Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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