Camilo E. Gutiérrez, MD, FAAEM
Boston Medical Center / Boston University School of Medicine
A 17 year old teenager presents as a new immigrant from Haiti for evaluation of “heart murmur” diagnosed there. Has no immediate family with him so past medical or family history is unclear. He is on no medications and denies drug abuse.
Complaints of occasional chest pain, palpitations and shortness of breath.
His vital signs are within normal limits.
On examination patient is noted to be tall and thin, pectus excavatum and high arched feet. Has evidence of scoliosis, fingers are long and thumbs are very lax. Lung exam is normal. Cardiovascular exam is remarkable for a holosystolic murmur with mid-systolic click, heard best at the apex and accentuated by valsalva. Mental status is normal. Neurologic examination is also within normal limits.
Rest of physical examination is within normal limits except for his eye examination pictured below.
With the physical findings noted on examination, concern for mitral valve prolapse, and the evidence of ectopia lensis with classic upwards lens dislocation (pictures), the differential diagnosis of Marfan syndrome was made.
Marfan syndrome is a relatively rare autosomal dominant disease, and occasionally seen after de novo mutations in the FBN1 gene on chromosome 15, which encodes fibrillin-1, a glycoprotein of the extracellular matrix critical for the structural integrity of connective tissue. Elastic fibers are found throughout the body, but are particularly abundant in the aorta, ligaments and the ciliary zonules of the eye. Diagnostic criteria of Marfan syndrome were last revised in 2010. More than 30 different signs and symptoms are variably associated with Marfan syndrome. The diagnosis is based on family history and a combination of major and minor indicators of the disorder. Common criteria are standard deviations of the aortic root size, ectopia lensis, and a systemic score based on the musculoskeletal findings, visual abnormalities and evidence of mitral valve prolapse, in addition to genetic testing for the FBN1 gene.
The patient was referred to Cardiology and Genetics for echocardiography and further diagnostic testing.