Answer to Quiz 4:

Ans: Marfan Syndrome with Aortic Root Dilatation causing Aortic Regurgitation

Explanation:

MARFAN SYNDROME is characterized by

(a) Skeletal Effects:

Patients have long, thin extremities, frequently associated with loose joints. The fingers and hands are long and slender and have a spider-like appearance (arachnodactyly). Many patients have severe chest deformities, including depression (pectus excavatum), protrusion (pectus carinatum), or asymmetry. CT or MRI examinations of the lumbar sacral region frequently reveals enlargement of the neural canal, thinning of the pedicles and laminae, widening of the foraminae, or anterior meningocele (dural ectasia). High-arched palate and high pedal arches or pes planus are common. A few patients have severe joint hypermobility.

(b) Cardiovascular Features:

Cardiovascular abnormalities are the major source of morbidity and mortality.

Mitral valve prolapse develops early in life and progresses to mitral valve regurgitation of increasing severity in about one-quarter of patients.

Dilatation of the root of the aorta and the sinuses of Valsalva are characteristic and ominous features of the disease that can develop at any age. The rate of dilatation is unpredictable, but it can lead to aortic regurgitation, dissection of the aorta, and rupture.

(c) Ocular Features:

Downward displacement of the lens is common. It is usually not progressive but may contribute to the formation of cataracts. The ocular globe is frequently elongated, most patients are myopic, and some develop retinal detachment. A few patients have lattice degeneration and retinal tears; most have adequate vision.

(d) Other Features

Striae may occur over the shoulders and buttocks. A number of patients develop spontaneous pneumothorax. Inguinal and incisional hernias are common. Patients are typically thin with little subcutaneous fat, but adults may develop centripetal obesity.

Treatment

Propranolol or other -adrenergic blocking agents are effectively used to lower blood pressure and thereby delay or prevent aortic dilatation. Surgical correction of the aorta, aortic valve, and mitral valve has been successful in many patients, but tissues are frequently friable.

The scoliosis tends to be progressive and should be treated by mechanical bracing and physical therapy if >20° or by surgery if it progresses to >45°. Dislocated lenses rarely require surgical removal, but patients should be followed closely for retinal detachment.

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