A 32-year-old woman comes to the physician because of a 2-day history of "poor vision" and "flashing lights" in her left eye. She is unusually tall, with long limbs and slender fingers. Physical examination is remarkable for pectus excavatum, kyphoscoliosis, a midsystolic click, and a pansystolic murmur. Ophthalmologic examination reveals a retinal detachment and dislocation of the lens. This patient is at greatest risk for which of the following conditions?
This patient most likely has Marfan syndrome, which is typically inherited in an autosomal dominant fashion, and consists of a mutation of the fibrillin gene that increases her risk of an aoic aneurysm at the base of the aoa. The classic features of Marfan syndrome are long, thin extremities, with skeletal changes such as pectus excavatum and kyphoscoliosis, ocular changes such as dislocation of the lens, myopia, and retinal detachment, and cardiovascular changes such as mitral valve prolapse (midsystolic click) and mitral regurgitation (pansystolic murmur). The life-threatening complications include aoic aneurysm, aoic dissection, and aoic rupture. Deafness is associated with Alpo syndrome, which is typically an X-linked inherited mutation of type IV collagen, that is characterized by hematuria, conical deformation of the lens, and sensorineural deafness. Gout can be associated with Type I glycogen storage disease (von Gierke disease), which an inherited autosomal recessive disorder that leads to hypoglycemia, hyperuricemia, lactic acidosis, and hyperlipidemia. These individuals have sho stature, fat cheeks, a protuberant abdomen, thin extremities, and "doll-like faces." Complications, other than gout, include pancreatitis, hepatic adenomas, renal disease, pulmonary hypeension, and osteoporosis. Large intestine rupture and uterine rupture are complications of Ehlers-Danlos syndrome type IV, which is a caused by a mutation in type III procollagen. The clinical features are thin, translucent skin, easy bruisability, and death due to uterine, aerial, or large bowel rupture. Other types of Ehlers-Danlos syndrome are associated with hyperelasticity of the skin, hypermobile joints, scoliosis, mitral valve prolapse, ocular fragility, cone-shaped deformities of the cornea, and hernias.
Deafness
Gout
Proximal aoic aneurysm
Large intestine rupture