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SURGICAL TREATMENT
insufficiency, though people with OI may have increased
risk of complications.
While medical therapies for the cardiovascular mani-
festations of OI should be considered with early manifes-
tations, both cardiac valve disease and aortic aneurysm
usually require surgery in later stages. Because these
cardiovascular problems in OI are typically recognized
late, there is usually severe dysfunction when the diag-
nosis is eventually made. The standards for operative
intervention for valve disease and aortic aneurysm are
well established for the general population. 37,38 There are
numerous case reports in the literature describing both
successful outcomes and complications of aortic and
valve disease surgery in OI. 39-42 In the absence of large
clinical trials assessing the safety and timing of cardio-
vascular surgery in OI, these general standards should
be considered in the context of the additional surgical
risks that are associated with OI.
As with any surgery for people with OI, one must first
consider the safety of anesthesia. Severe skeletal defor-
mities and dental disease will impact airway access for
endotracheal intubation and may impair weaning from
mechanical ventilation. 43 Collagen deficiencies may
result in poor healing, iatrogenic bone fractures, capillary
fragility and bleeding diatheses. 44 There are case reports
of malignant hyperthermia occurring with general anes-
thesia among individuals with OI, though a review of 49
people with OI for temperature variation during surgery
identified no perioperative anesthetic complications, and
no overall difference in temperatures between those with
OI and those without. 45-47
References
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and spatial expression of collagens during murine atrioven-
tricular heart valve development and maintenance. Dev Dyn
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SUMMARY
The cardiovascular manifestations of OI typically
involve cardiac valve insufficiency, aortic dilation or
aneurysm and arterial dissection or rupture. High levels
of type I collagens in the ventricles of the heart suggest
that individuals with OI may have impaired response
to cardiac injury, such as myocardial infarctions. Indeed
murine studies recapitulate these manifestations, and
raise concern that cardiovascular diseases may be more
prevalent than currently appreciated among people
with this condition. Careful monitoring for cardiovascu-
lar diseases is best accomplished by echocardiography.
Ventricular and aortic sizes are typically normalized to
body surface area, and an individual patient's cardiovas-
cular dimensions should be considered in this context.
Although no medical treatments are known specifically
to improve the cardiovascular manifestations of OI, those
used for other connective tissue disorders show great
promise. Surgery is often the best treatment for peo-
ple with advanced aortic enlargement or cardiac valve
[12]
McKusick VA. Osteogenesis imperfecta McKusick VA, editor.
Heritable disorders of connective tissue (4th ed.). Saint Louis,
MO: C.V. Mosby Company; 1972. p. 390-454.
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Passmore JM, Walker WE, Fuentes F. Successful aortocoro-
nary bypass in osteogenesis imperfecta. J Am Coll Cardiol
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[14]
Albayram S, Kizilkilic O, Yilmaz H, Tuysuz B, Kocer N, Islak C.
Abnormalities in the cerebral arterial system in osteogenesis
imperfecta. Am J Neuroradiol 2003;24(4):748-50.
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Fazio S, Sanan DA, Lee YL, Ji ZS, Mahley RW, Rall Jr SC.
Susceptibility to diet-induced atherosclerosis in transgenic
mice expressing a dysfunctional human apolipoprotein E(Arg
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Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. Two-
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Rao VU, Spinale FG. Controlling myocardial matrix remodeling:
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Weber KT. Cardiac interstitium in health and disease: the ibril-
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