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
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.
*151 N. Dean Street, Englewood, NJ 07631.
Copyright @ 1999 Lippincott Williams & Wilkins, Inc.
Volume 13- Number 1 -1999 15