Cardiovascular Pathology in Osteogenesis Imperfecta Type Iia with a Review of the Literature

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Abstract
Lethal perinatal osteogenesis imperfecta (01 Type II) is a biochemically diverse collagen disorder characterized by short, crumpled long bones, beaded ribs, blue sclerae and thin, fragile skin. Cardiovascular abnormalities are rarely described. Using morphometry and light and electron (SEM and TEM) microscopy, we analyzed the hearts and great vessels from 2 fetuses with 01 Type IIA and compared the findings with age-matched controls. The heart weights and atrioventricular valve (AVV) circumferences were reduced in 01. The chordae tendineae were short and fragile; both the AVVs and the chordae lendineae were hypercellular. TEM showed relatively little organized collagen in the chordae tendineae of 01 fetuses. Furthermore, quantitative evaluation of collagen fibril size revealed a decrease in the cross-sectional diameter. There was also a marked decrease in the adventitial and intramural collagen of the intramyocardial arteries and great vessels in 01. Our study reports, for the first time, specific lesions in the cardiovascular systems of patients with 01 Type II and reviews the cardiovascular pathology in other forms of 01.

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