mortality/aging
• 4 of 5 adult pregnant females died late in pregnancy
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• about 80% die in the first days after birth
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cardiovascular system
• frequently see extensive vacuolization of endothelial cells
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• blood vessels within the myocardium appear abnormal with disrupted smooth muscle cell ensheathment
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• neonates exhibit moderate malrotation of the cardiac outflow tracts
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• neonates exhibit moderate malrotation of the cardiac outflow tracts, in some cases resulting in an overriding aorta
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• about 1/3 of homozygotes show atrial septal defects
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• about 1/2 of homozygotes show thickened tricuspid valves, however mitral valves appear normal
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• membranous ventricular septal defects
(J:87592)
|
• stenotic aortic valves with abnormally thickened leaflets at birth
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• thicker aortic valve
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• stenotic pulmonic valves with abnormally thickened leaflets at birth
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• exhibit abnormally distended blood-filled vascular structures on the anterior wall of the right ventricle
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• those surviving to adulthood display an enlarged right ventricle
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hemorrhage
(
J:87592
)
• intramyocardial hemorrhage
• occasionally see rupture of both capillaries and arterioles with release of erythrocytes into the extravascular space
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muscle
• blood vessels within the myocardium appear abnormal with disrupted smooth muscle cell ensheathment
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homeostasis/metabolism
skeleton
N |
• in spite of high expression in osteoblast-like cells in the bone, neither skeletal development nor bone growth were overtly affected
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