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(Circulation. 1998;97:1103-1104.)
© 1998 American Heart Association, Inc.

Images in Cardiovascular Medicine

Infantile Marfan's Syndrome

Robin W. Doroshow, MD; Henry J. Lin, MD; ; Jeffrey C. Milliken, MD

From the Divisions of Cardiology (R.W.D.) and Medical Genetics (H.J.L.), Department of Pediatrics, and the Division of Cardiothoracic Surgery (J.C.M.), Department of Surgery, Harbor-UCLA Medical Center, Torrance, Calif.

Correspondence to Robin W. Doroshow, MD, Pediatric Cardiology, Harbor-UCLA Medical Center, 1124 W Carson St, N-25, Torrance, CA 90502.

This Mexican-American girl with a negative family history was noted at birth to have a dysmorphic appearance, including long, slender fingers. A presumptive diagnosis of Marfan's syndrome was made. Echocardiography at that time showed borderline aortic root dilatation. Despite treatment with ß-blockers, by 21 months of age, the aortic root was markedly dilated on the echocardiogram, with appearance of aortic valve insufficiency. Other medical problems have included orthopedic deformities of the feet and chest and severe myopia necessitating correction since infancy.

At the age of 3.5 years, the patient was 108 cm tall (90th percentile for age) and weighed 15.5 kg (50th percentile). She had deep-set eyes, large ears, frontal bossing, and arachnodactyly (Fig 1). The precordial impulse was hyperdynamic, and systolic and diastolic aortic murmurs were heard. The aortic root was massively dilated, as demonstrated on echocardiography, computerized tomography, and angiography (Fig 2), with moderately severe aortic insufficiency and significant compression and distortion of the right atrium, left atrium, and right ventricle. She underwent successful elective replacement of the aortic valve and root (Fig 3), extending to the upper third of the ascending aorta, with a 25-mm aortic homograft.

View larger version (136K): [in this window] [in a new window]   Figure 1. Patient at age 2 years. Note arachnodactyly, severe myopia, and pectus excavatum deformity.

View larger version (160K): [in this window] [in a new window]   Figure 2. Retrograde aortogram at age 3 years. There is marked dilatation of the proximal ascending aorta and aortic root. The latter is 4.6 cm in diameter, approximately three times normal for the patient's body surface area. Little valvular insufficiency is seen . . . [Full Text of this Article]

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