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January 18, 2010

Coding for Marfan Syndrome
For The Record
Vol. 22 No. 1 P. 29

Marfan syndrome (ICD-9-CM code 759.82) is a genetic disorder affecting the connective tissue, causing it to lose its elasticity and strength. Since connective tissue is located throughout the body, the syndrome can affect many different body systems, such as the cardiovascular, nervous, and respiratory.

Marfan syndrome is an autosomal dominant condition that tends to worsen with age. The greatest risk factor is having a parent with the disorder. Another cause is a change in a gene that occurs during early development in the womb.

The syndrome is present at birth but may not appear until later in life. According to coding guidelines, “Although present at birth, a congenital anomaly may not be identified until later in life. Whenever the condition is diagnosed by the physician, it is appropriate to assign a code from codes 740-759” (ICD-9-CM Official Guidelines for Coding and Reporting, effective October 1, 2009, page 54). Therefore, it is appropriate to assign the congenital code 759.82 in an adult patient.

Symptoms of Marfan syndrome may vary greatly because the condition can affect so many body systems. Characteristic features include a tall, slender build; disproportionately long arms and legs; long, thin fingers and toes; a breastbone that protrudes outward or dips inward; a high, arched palate; crowded teeth; a heart murmur; palpitations; myopia; scoliosis; flat feet; loose, flexible joints; a long, thin face, deep set eyes, and small bottom jaw; and dural ectasia.

Common complications of Marfan syndrome include the following:

• aortic dilation;

• aortic aneurysm, which most commonly occurs at the aortic root, with the concern that the aneurysm may rupture or tear;

• aortic dissection, or a tear in the innermost layer of the aorta’s wall which allows blood to squeeze in between the inner and outer layers of the wall;

• a valve malformation that may lead to heart failure;

• dislocation of the lens in one or both eyes;

• glaucoma;

• cataracts;

• retinal detachment or tear;

• emphysema;

• chronic obstructive pulmonary disease;

• a collapsed lung;

• sleep apnea; and

• scoliosis.

Do not assign codes for the above complications that are inherent to Marfan syndrome (AHA Coding Clinic for ICD-9-CM, 1993, third quarter, page 11). According to coding guidelines, “When the code assignment specifically identifies the congenital anomaly, manifestations that are an inherent component of the anomaly should not be coded separately. Additional codes should be assigned for manifestations that are not an inherent component” (ICD-9-CM Official Guidelines for Coding and Reporting, effective October 1, 2009, pages 53-54).

To diagnose Marfan syndrome, symptoms must present as a group. Some diagnostic tests performed to aid in diagnosing Marfan syndrome include an echocardiogram or transesophageal echocardiogram to check heart chambers and valves, an electrocardiogram to check for heart rhythm problems, an MRI to examine the aorta, a CT scan to examine the aorta, a slit-lamp exam to check for eye problems, an eye pressure test to check for glaucoma, genetic testing, or an exam with an orthopedist to check for joint disorders.

There is no cure for Marfan syndrome. However, a physician may treat the symptoms and attempt to prevent the complications.

Treatment for the cardiovascular complications may include medications such as beta blockers, angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, and calcium channel blockers. These medications may slow the heart beat or lower blood pressure, which may reduce the wear and tear on blood vessels. In addition, surgery may be required on the heart valves or aorta.

Coding and sequencing for Marfan syndrome are dependent on the physician documentation in the medical record and application of the Official Coding Guidelines for inpatient care. Also, use specific AHA Coding Clinic for ICD-9-CM and American Medical Association CPT Assistant references to ensure complete and accurate coding.

— This information was prepared by Audrey Howard, RHIA, of 3M Consulting Services. 3M Consulting Services is a business of 3M Health Information Systems, a supplier of coding and classification systems to more than 4,000 healthcare providers. The company and its representatives do not assume any responsibility for reimbursement decisions or claims denials made by providers or payers as the result of the misuse of this coding information. More information about 3M Health Information Systems is available at www.3mhis.com or by calling 800-367-2447.