Aortic dissection in osteogenesis imperfecta: case report and review of the literature

McNeeley, Michael F.; Dontchos, Brian N.; Laflamme, Michael A.; Hubka, M; Sadro, Claudia T.

doi:10.1007/s10140-012-1044-1

Cited by 20 publications

(12 citation statements)

References 25 publications

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“…One study and four case reports found the occurrence of arterial dissections. In the case reports, four individuals had an aortic dissection of either Type A (Balasubramanian et al, ; McNeeley, Dontchos, Laflamme, Hubka, & Sadro, ) or B (Balasubramanian et al, ; Byra, Chillag, & Petit, ), and one individual had a coronary artery dissection (Eskola et al, ). Aneurysms of the aorta (Alfirevic & Insler, ; Davies & Davie, ), thoracic artery (Byra et al, ), and coronary artery (Hajsadeghi et al, ) were found in four individuals with OI.…”

Section: Resultsmentioning

confidence: 99%

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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Osteogenesis imperfecta (OI) is a rare genetic disorder of the bones caused by a mutation in Type I collagen genes. As adults with OI are aging, medical concerns secondary to OI may arise. This integrative review sought to review, appraise, and synthesize the clinical manifestations faced by adults with OI. Four electronic bibliographic databases were searched. Published quantitative, qualitative, and mixed‐methods studies, as well as case reports from 2000 to March 2019, addressing a clinical manifestation in adulthood, were reviewed. Eligible studies and case reports were subsequently appraised using the Mixed Methods Appraisal Tool and Case Report Checklist, respectively. Twenty quantitative studies and 88 case reports were included for review regardless of the varying methodological quality score. These studies collectively included 2,510 adults with different OI types. Several clinical manifestations were studied, and included: hearing loss, cardiac diseases, pregnancy complications, cerebrovascular manifestations, musculoskeletal manifestations, respiratory manifestations, vision impairment, and other clinical manifestations. Increased awareness may optimize prevention, treatment, and follow‐up. Opportunities to enhance the methodological quality of research including better design and methodology, multisite collaborations, and larger and diverse sampling will optimize the generalizability and transferability of findings.

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Section: Resultsmentioning

confidence: 99%

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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“…Thus, altered type I collagen synthe sis can affect their biomechanical properties 181 , leading, in rare cases, to aortic dissection 182 . Most commonly reported cardiac abnormalities are aortic root dilation 183 and left sided valvular regurgitation, and, occasionally, right sided valve pathologies [184][185][186] .…”

Section: Cardiovascular Manifestationsmentioning

confidence: 99%

“…Adults with osteogenesis imperfecta have an increased risk of aneurysms and dissections 182,183 , and deafness compared with age matched controls. Cardiac evalu ation is important in individuals with severe progressive deforming osteogenesis imperfecta or with any cardio pulmonary symptoms 185 .…”

Section: Adult Managementmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

549

582

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| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

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“…The other known TAD risk factors included in the model as potential confounders were age; sex; hypertension; heritable connective tissue disease (Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta); Turner syndrome; inflammation of the aorta (giant cell arteritis, Takayasu arteritis, systemic lupus erythematosus, polyarteritis nodosa, granulomatosis with polyangiitis, and cardiovascular syphilis); blunt trauma; pregnancy; cocaine use; amphetamine use; atherosclerosis; lipid disorders; and diabetes [1,24,[27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43]. There is no ICD-9 code for Loeys-Dietz syndrome, so it could not be evaluated.…”

Section: Study Variablesmentioning

confidence: 99%

Thoracic aortic dissection and rupture in conotruncal cardiac defects: A population-based study

Frischhertz¹,

Shamszad²,

Pedroza³

et al. 2015

International Journal of Cardiology

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Aortic dissection in osteogenesis imperfecta: case report and review of the literature

Cited by 20 publications

References 25 publications

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Osteogenesis imperfecta

Thoracic aortic dissection and rupture in conotruncal cardiac defects: A population-based study

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