Infantile Marfan’s Syndrome
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 β-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.
Although Marfan’s syndrome is a hereditary disorder, it does not usually become manifest until late childhood or early adulthood. It may be suspected on the basis of body stature and appearance or on the basis of the cardiac manifestations, and it is caused by mutations in the gene for fibrillin, a connective-tissue microfibril component. Mutations within a particular region of the gene have been found in patients with the so-called “infantile Marfan’s syndrome,” suggesting a molecular basis for this phenotype. In these cases, which are usually sporadic rather than familial, the phenotypic appearance is more pronounced and apparent at an early age, and the cardiac involvement is more severe and earlier in onset.
The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.
Circulation encourages readers to submit cardiovascular images to Dr Hugh A. McAllister, Jr, St Luke’s Episcopal Hospital and Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.
- Copyright © 1998 by American Heart Association