Case history
Case history #1
In a routine medical examination, a young man is noted to be tall with a slight scoliosis and pectus excavatum (breastbone is sunken into the chest). He had been told that he was over the 95% percentile for height as a child. The examining physician suspects the patient has Marfan syndrome, and auscultation reveals a heart murmur. Echocardiography shows an enlarged aortic root, aortic valve regurgitation, and mitral valve prolapse.
Case history #2
A 34-year-old female, tall and slim, with bilateral dislocated lenses from birth, was diagnosed with Marfan syndrome after the birth of her classically affected son, a long slim baby with arachnodactyly, indented chest, and bilateral dislocated lenses. On echocardiography the mother was found to have a dilated aortic root measuring 4.6 cm. Screening of the fibrillin-1 gene revealed a causative mutation in both mother and son. No other family members carried the mutation. The mother's aortic root was replaced at age 35, followed by thoracoabdominal aortic replacement at age 69. She died at age 73 of a stroke due to a cerebral bleed. Her son had aortic root replacement at age 17 and awaits abdominal aortic replacement at age 40. His son aged 5 carries the same mutation and suffers from bilateral lens dislocation, and aortic root dilation at age 5.
Other presentations
Acute aortic dissection commonly causes sudden-onset chest, back, shoulder or abdominal pain. Clinical presentations related to musculoskeletal problems (e.g., scoliosis), hernias, or ophthalmic refractive errors are less common. The main ocular symptoms are blurred vision and monocular diplopia caused by progressive lens subluxation and resulting severe astigmatism.
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