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?
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?
💡 Explanation
## **Core Concept**
The patient's presentation suggests a diagnosis of Marfan syndrome, a genetic disorder that affects the body's connective tissue. This condition is characterized by tall stature, long limbs, slender fingers, and various musculoskeletal, cardiovascular, and ocular abnormalities. The key features in this case include pectus excavatum, kyphoscoliosis, a midsystolic click with a pansystolic murmur indicative of mitral valve prolapse, retinal detachment, and lens dislocation.
## **Why the Correct Answer is Right**
The patient described has Marfan syndrome, which is caused by mutations in the **FBN1** gene. This gene encodes fibrillin-1, a protein crucial for the formation of elastic fibers found in connective tissue. The condition is associated with an increased risk of aortic root dilatation and aortic dissection due to the weakening of the aortic wall. This risk is the most life-threatening aspect of Marfan syndrome.
## **Why Each Wrong Option is Incorrect**
- **Option A:** While patients with Marfan syndrome can have various cardiac issues, the specific risk of conditions like cardiomyopathy or specific arrhythmias, although present, does not surpass the risk of aortic dissection.
- **Option B:** Although mitral valve prolapse and mitral regurgitation are common in Marfan syndrome, the risk of complications from these conditions is generally lower than the risk of aortic dissection.
- **Option C:** This option might relate to other complications but does not directly address the most significant risk associated with Marfan syndrome.
- **Option D:** This could potentially refer to other complications but does not specify the most critical risk.
## **Clinical Pearl / High-Yield Fact**
A crucial clinical pearl for Marfan syndrome is that patients are at a significantly increased risk of **aortic dissection**, which can be precipitated by uncontrolled hypertension. Therefore, blood pressure control is a critical aspect of managing patients with Marfan syndrome. The classic triad of Marfan syndrome includes **ocular, skeletal, and cardiovascular manifestations**.
## **Correct Answer: .**
✓ Correct Answer: C. Proximal aoic aneurysm
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