Marfan’s Syndrome

Marfan’s Syndrome: An Unusual Case of Neck, Shoulder, and Jaw Pain in a Former College Basketball Player

Andrew A. McBain, D.C., D.A.C.B.S.P., and Alan S. Pine, D.C., D.A.C.B.S.P. *

abstract: This case study discusses the clinical management of a middle-aged former college basketball player who suffered from neck, shoulder, and jaw pain. After chiropractic examination failed to reveal a musculoskeletal cause of his pain, the patient un­derwent additional diagnostic testing and was eventually diagnosed with Marfan’s syndrome. The clinical characteristics of Marfan’s syndrome are reviewed, including its high prevalence of back pain and its potentially life-threatening cardiovascular abnormalities. With the increasing use of chiropractic care by athletes, it is important for the profession to become familiar with the signs and symptoms of this condition. key words: Marfan’s Syndrome; Chiropractic; Basketball; Back Pain; Neck Pain

CASE REPORT A 40-yr-old former Division 1 college basketball player suf­fered from a sudden onset of neck and jaw pain severe enough that past episodes had brought him to the emergency room of a local hospital. A complete physical examination disclosed, however, that his symptoms were not directly related to the spine.Because back pain is more prevalent in patients with Mar­fan’s syndrome than in the general population,1 he was re­ferred for a cardiac examination on the recommendation of the emergency room physician. Subsequent examination revealed the presence of Marfan’s syndrome. His past history included two surgical procedures for vari­cose veins, two fractured ankles, and several episodes of tom ankle ligaments. He had suffered an episode of low back spasm IS years ago and intermittent low back pain since.His father had a history of ascending aortic aneurysm be­fore his death from complications of pneumonia. Further, the patient’s siblings were quite tall, and his sister had spinal surgery to implant Harrington rods to correct a severe spinal scoliosis.On his initial visit to our office, the pain that had initially prompted him to arrange an appointment had disappeared. Spinal range of motion was unrestricted and pain-free; blood pressure was 118/82 and pulse rate was 64. He stood 201 cm tall and weighed 114 kg.The patient had normal skin elasticity and no anterior chest deformity, but he did have a mild thoracolumbar scol­iosis. However, he showed no hyperextensibility of the joints, and the wrist sign was negative (i.e., when the patient wrapped his thumb and little finger around his opposite wrist, there was no overlap; if the thumb and little finger overlap, the result is considered positive). The thumb sign was also negative (i.e., when the fingers are flexed over the thumb, protrusion of the thumb beyond the little finger con­stitutes a positive result).2 The patient did, however, exhibit mild arachnodactyly. The results of his neurologic examina­tion were normal.Trigger point examination did not reveal any active lesions in the trapezius, levator scapulae, splenius cervicis, infraspinatus, deltoids, supraspinatus, teres major and minor, sub­scapularis, sternocleidomastoid, masseter, and lateral and me­dial pterygoids. Moreover, examination by manual palpation and pressure over these muscles did not reproduce any of the patient’s symptoms, nor did range-of -motion testing of the fol­lowing joints reveal any hypermobility: shoulders, elbows, wrists, knees, hips, and ankles. All standard chiropractic and orthopedic tests for the cervicothoracic spine were negative, except that the Adam’s test was positive for thoracolumbar scoliosis. The absence of any positive findings indicated that this patient’s symptoms were not musculoskeletal in origin. The patient was referred for a cardiac consultation; subse­quent chest CT scans with contrast revealed a dilated ascend­ing aorta measuring 4.5 cm, and an echocardiogram revealed mitral valve prolapse.At that juncture, the patient underwent further consultation. He was referred for further diagnostic testing, including a trans­esophageal echocardiogram, slit-lamp eye examination, genetic testing, and orthopedic consultation. The patient was also seen at the Johns Hopkins Center for Medical Genetics in Baltimore, where it was conclusively determined that he was suffering from Marfan’s syndrome. The patient was initially prescribed atenolol (Tenormin), but this medication fatigued him, and he was thereafter switched to verapamil (Calan SR). Initially he re­stricted his physical activities, but after a time he returned to his regular routine. Subsequent CT scans at 6-month intervals have indicated no further enlargement or change.None of the patient’s siblings have exhibited any of these symptoms, although diagnostic testing revealed that the pa­tient’s youngest son also had aortic root dilation. The patient also has a niece with aortic arch enlargement.

A diagnosis of Marfan’s syndrome is based clinically on the presence of at least two of the four major features-positive family history and ocular, cardiac, and skeletal abnormalities.2 At present, uncertainty still exists whether the hereditary defect primarily involves elastic fibers or collagen fibers, although most evidence supports the view that some subtle biochemical or metabolic defect in collagen accounts for its premature de­generation on aging.4 In 1990, the identification of a mutation of the fibrillin gene on chromosome 15 was, in any case, estab­lished as the causative defect of Marfan’s syndrome.3 Spinal manifestations (usually scoliosis) occur in 45% of patients. Marfan’s syndrome involves defects in the molecular structure of fibrillin, a component of connective tissue.7-10All the ocular changes relate to a basic defect in connective tissue and impaired support of the ocular structures. Despite some research supporting collagen defects as the culprit, the aortic defect appears to be caused by the degeneration of elastin within the arterial smooth muscle. The severity of clin­ical manifestations varies widely among affected persons.4For a person with a questionable diagnosis and with relatives clearly affected by Marfan’s syndrome, there is not, and will not soon be, a DNA-based diagnostic test. Thus, the diagnos­tic criteria for the disorder remain based on clinical findings.1 Marfan’s syndrome is an uncommon connective tissue dis­order; its characteristic aortic arch defects can result in life threatening complications if left undetected and untreated. People affected by the disease have a good chance of experi­encing back pain because of their hyperextensive joints, de­formity, and skeletal muscle underdevelopment, which is why they may seek chiropractic help.The typical patient with Marfan’s syndrome is markedly tall, with very long extremities and long tapering fingers and toes that exhibit a laxity of their ligaments suggesting double­jointedness. The chest is classically deformed, either as pectus excavatum or carinatum. Patients have little subcutaneous fat, and their muscle development is poor. (Abraham Lincoln is thought to have suffered from Marfan’s syndrome. ) Certainly, presentation of a patient with these postural or physical signs should alert the practitioner to suspect the presence of the dis­order. To confirm the diagnosis, a thorough history should first be taken, asking about family history in particular for any signs of the syndrome or any unexplained death in the family. The physical examination that follows should include arm span measurement and comparison with the patient’s height. In Marfan’s syndrome, arm span is often greater than overall height, just the reverse of what occurs in the normal popula­tion. This patient had an arm span of 208 cm. Another test compares upper and lower body segment lengths: the body is divided into a lower segment (from the top of the symphysis pubis to the floor) and an upper segment (from the top of the symphysis to the top of the head). The normal upper-to-lower body ratio is .92 :t .04 in whites and .85 :t .05 in blacks.2.11 In this patient, the ratio was .82.The thumb and wrist size are ancillary tests that are not ab­solutely indicative of Marfan’s syndrome. It is wise, however , to examine the patient for high-arched palate, hyperextensive joints, flat feet, inguinal hernias, and nearsightedness. A slit­lamp examination may be needed as well to check for mild lens displacement. In addition, cardiac auscultation may detect murmurs of aortic and mitral regurgitation.If any positive physical findings surface, the patient should be referred for a cardiac consultation and an echocar­diogram. To reach a positive diagnosis, at least two of the four major features (positive family history and ocular, car­diovascular, and skeletal abnormalities) must be present, as noted above.2Death can occur from a rupture of the ascending aorta or from a dissecting aortic aneurysm. Aortic root dilation can be measured by an echocardiogram, CT, or MRI. With proper treatment (which may include drugs or surgery) and follow-up, these patients’ lives may be prolonged, but proper and prompt diagnosis is half the battle.The patient was prescribed atenolol, a 13-selective hy­drophilic blocking agent. This regimen essentially reduces resting and exercise heart rates and cardiac output. The patient was advised to restrict his activities, avoiding contact, com­petitive sports and weightlifting. Acute dissection and rupture could occur from body contact or collision, from increased blood-pressure loads accompanying isometric or resistance exercise, or from the increased pressure and volume loads that occur with endurance exercises.12 He was also advised to re­ceive antibiotic prophylaxis (because of the increased risk of infection) before dental and other surgical procedures.This patient had an aortic root measurement of 45 mm on chest CT scan; prophylactic composite graft repair of aortic aneurysms is recommended for anyone with aortic dilatation of more than 60 mm. This patient played competitive basket­ball throughout high school and college and had been playing in various leagues and games two to five times per week until the incident that brought him to the emergency room. The pa­tient has undergone a chest and abdominal CT scan every 6 months, and follow-up has revealed no increase in the size of dilatation since it was first measured.