| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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
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.
Footnotes
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.
(Circulation. 1998;97:1103-1104.)
© 1998 American Heart Association, Inc.
Images in Cardiovascular Medicine
Infantile Marfan's Syndrome
). 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 a new window]
Figure 1. Patient at age 2 years. Note arachnodactyly,
severe myopia, and pectus excavatum deformity.
View larger version (160K):
[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
in this early frame.
View larger version (140K):
[in a new window]
Figure 3. Operative photograph of ascending aorta
(top=cephalad). As in aortogram, marked dilatation of ascending aorta
is seen, with translucent appearance of wall due to thinning, and
stretched, sparse surface vessels. There is a relatively abrupt
transition to normal tissue at upper end of incision.
This article has been cited by other articles:
 |
|
 |
|
  T. O. Cheng, R. W. Doroshow, and H. J. Lin Marfan Syndrome, Not Marfan's Syndrome • Response Circulation, January 12, 1999; 99 (1): 164 - 167. [Full Text] [PDF]
|
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||