Management of Children with Marfan Syndrome

Marfan syndrome, a multisystem connective tissue disorder affecting the ocular, musculoskeletal, and cardiovascular systems, occurs in 1 in 5000 individuals. Transmission is autosomal dominant, but one quarter of cases result from new mutations. Most cases are caused by defects in FBN1, the gene that encodes for fibrillin. The phenotypical spectrum is wide, and features can present at any age. These authors offer guidance on recognizing and managing Marfan syndrome in children.

Diagnosis is clinically based utilizing well-defined (revised Ghent) criteria. Aortic root aneurysm and ectopia lentis (dislocated lens) are considered the cardinal features. In the absence of family history, the presence of these two features is sufficient for the unequivocal diagnosis of Marfan syndrome. Genetic testing is reserved for patients in whom there is strong clinical suspicion but full criteria are missing. Because some features are age-dependent, children and adolescents may be categorized as “potential Marfan syndrome” and evaluated periodically in lieu of genetic testing.

Excessive linear growth of the long bones is characteristic. Patients are taller than expected given familial height (mean final height: males, 75 inches; females, 69 inches). Growth of tubular bones is accelerated, leading to disproportionate features, including arachnodactyly (long, slender fingers) and pectus excavatum/carinatum (sunken or protruding chest). Scoliosis occurs in over half of patients. Facial features can be variable, subtle, and evolve over time. Ocular manifestations include ectopia lentis, retinal detachment, glaucoma, and cataracts.

Cardiovascular complications — aortic dilation/rupture, aortic valve insufficiency, and pulmonary artery enlargement — are the major source of morbidity and mortality and require lifelong monitoring. Aortic dilation is progressive; it is usually discernible before age 18 but can occur at any age. Mitral valve prolapse with congestive heart failure is the leading cause of cardiovascular morbidity and mortality in young children.

Stretch marks and inguinal hernias are common, despite the slender habitus. Recurrent hernias or hernias at surgical repair sites are a hallmark of Marfan syndrome and other connective tissue disorders.

Contact and competitive sports, activity requiring “burst” movement (e.g., sprinting), and intense static exertion (e.g., weight-lifting) should be avoided due to high cardiovascular risk. High-impact sports (e.g., boxing) carry a high risk for ocular trauma.

Intelligence is normal, and life expectancy can approach normal range.