Coronary artery dissection, combined aortic valve replacement and coronary bypass grafting in osteogenesis imperfecta

Osteogenesis imperfecta is an inherited connective tissue disorder. Aortic root dilation, aortic insufficiency and mitral valve prolapse are uncommon cardiovascular manifestations of osteogenesis imperfecta. Cardiac surgery in patients with osteogenesis imperfecta involves a high risk of complication rate. We report a case of coronary artery dissection induced by coronary angiogram in a patient with osteogenesis imperfecta and severe aortic regurgitation. In this case, the dissection of a coronary artery was not completely sealed by coronary stenting, and followed by successful combined aortic valve replacement and coronary artery bypass grafting on an emergency basis.     

Cardiac reoperation in a patient with osteogenesis imperfecta: a case report.

A case of a 40-year-old man with dehiscence of the prosthetic aortic valve and recurrence of mycotic aneurysm of the left ventricular outflow tract with osteogenesis imperfecta is presented. He had an operation of aortic valve replacement and direct closure of the mycotic aneurysm for infective endocarditis twenty-one months ago. We performed reoperation of prosthetic aortic valve, patch closure of the mycotic aneurysm and graft replacement of the ascending aorta. He was complicated with multiple fractures of bilateral scapla and dislocation of left shoulder one postoperative day. Fortunately, cardiac reoperation was performed successfully in this patient despite anticipated difficulties with tissue friability with osteogenesis imperfecta.     

Ministernotomy for aortic valve replacement in a patient with osteogenesis imperfecta.

Open heart operations in patients with osteogenesis imperfecta are associated with increased morbidity and mortality resulting from tissue friability and bone brittleness. We used a ministernotomy approach for aortic valve replacement in a patient with osteogenesis imperfecta, with clear benefits and a satisfactory outcome.     

Valvular heart surgery in osteogenesis imperfecta

Osteogenesis imperfecta is a disease in which fragile bones readily cause fracture. Valvular disease concurrently develops. However, the surgery-related mortality rate is approximately 30%. In this study, we report 2 patients with osteogenesis imperfecta who underwent valvular heart surgery. Patient 1 was a 31-year-old male. He had previously been diagnosed as having osteogenesis imperfecta. Echocardiography suggested aortic valve insufficiency, and aortic valve replacement was performed. Patient 2 was a 59-year-old male. During admission, osteogenesis imperfecta was diagnosed. Echocardiography suggested mitral valve insufficiency, and mitral valve plasty was performed. In the 2 patients, intraoperative hemorrhage was marked. However, there were no fatal complications. We also reviewed the literature.     

Aortic valve replacement in a woman with osteogenesis imperfecta.

The mortality rate in cardiac surgery patients with heritable generalized connective tissue disorders, such as Marfan s syndrome and osteogenesis imperfecta, is high due to tissue friability. We describe a successful open heart surgery for repair of aortic regurgitation in a woman with osteogenesis imperfecta (OI). Although tissue friability caused no problems during surgery in this case, it should be kept in mind when operating on patients with OI.     

Double valve replacement in a patient with osteogenesis imperfecta

Successful mitral and aortic valve replacement in a patient with osteogenesis imperfecta (OI) is reported. The potential complications of valvular dehiscence and bleeding in patients with this connective tissue disorder is discussed with a short review of the reported experience of valvular surgery in patients with OI.     

Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature

Osteogenesis imperfecta is one of the most common groups of inherited disorders of connective tissue. Hyperplastic callus formation in patients with osteogenesis imperfecta after fracture or surgery is a rare occurrence that has often been misdiagnosed as osteosarcoma. Previous series reported that hyperplastic callus formation is more often present in osteogenesis imperfecta male patients, with white sclerae, and a negative family history of the disorder. This is the first time that this complication has been presented in three female siblings, with a positive family history of osteogenesis imperfecta type IV. An association between osteogenesis imperfecta type IV and hyperplastic callus formation is unclear. This association might, however, be a separate, specific subtype of osteogenesis imperfecta, with an unknown inheritance pattern.     

Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta.

STUDY DESIGN: A cross-sectional radiologic and clinical study of patients with osteogenesis imperfecta. OBJECTIVES: To determine whether pulmonary compromise is more closely correlated with scoliosis, kyphosis, or chest wall deformity in the population with osteogenesis imperfecta, and to assess the impact of spinal deformity, chest wall deformity, and pulmonary function on quality of life. SUMMARY OF BACKGROUND DATA: The incidence of scoliosis in osteogenesis imperfecta is between 39% and 80%. Up to 60% of patients with osteogenesis imperfecta have significant chest wall deformities. Pulmonary compromise is the leading cause of death in adults with osteogenesis imperfecta. METHODS: Fifteen patients with osteogenesis imperfecta between the ages of 20 and 45 were evaluated with sitting or standing anteroposterior and lateral radiographs of the entire spine, pulmonary function testing, and a validated health self-assessment questionnaire (Short Form-36). Radiographs were evaluated for thoracic scoliosis, thoracic kyphosis, and chest wall deformity. Correlation analysis was performed. RESULTS: Thoracic scoliosis was strongly correlated with decreased predicted vital capacity (r = -0.76). Significant diminution in vital capacity below 50% occurred at a curve magnitude of 60 degrees. Kyphosis and chest wall deformity were not predictive of decreased pulmonary function. Physical health (PCS) was closely correlated with predicted vital capacity (r = 0.65; P < 0.01) and with scoliosis (r = -0.52; P < 0.05). CONCLUSIONS: Thoracic scoliosis of more than 60 degrees has severe adverse effects on pulmonary function in those with osteogenesis imperfecta. This finding may partly explain the increased pulmonary morbidity noted in adult patients with osteogenesis imperfecta and scoliosis compared with that in the general population.     

Complication following intramedullary fixation with a Fixion nail in a patient with osteogenesis imperfecta: a case report

Osteogenesis imperfecta (O.I.) is a genetic disorder with increased bone fragility and low bone mass. We report the history of a 17-year-old male patient with O.I. who presented a fracture of his left femoral shaft. He had osteogenesis imperfecta type I A according to Silence. He had presented two years previously an ipsilateral cervical fracture of the femur which had healed. Intramedullary fixation with a Fixion intramedullary nail was elected. While the Fixion nail was being inflated to 70 bars with saline, a longitudinal fracture occurred in the femoral shaft. A conventional intramedullary nail and cerclage wire were applied for fixation. The fracture healed without complication in 10 weeks. Based on this observation, we do not recommend using the Fixion IM nail for fracture fixation in patients who have abnormal bone fragility such as in osteogenesis imperfecta.     

An unusual cause of spinal bone loss detected by DXA scanning

Routine DXA scanning in a 68-year-old asymptomatic man undergoing long-term bisphosphonate treatment for osteogenesis imperfecta showed unexplained loss of bone mineral density in two lumbar vertebrae. Subsequent radiographs revealed a 14-cm abdominal aortic aneurysm eroding the vertebrae. The importance of reviewing all the vertebrae in DXA scans is emphasized, and reasons for the absence of symptoms suggested.     

Costovertebral anomalies in osteogenesis imperfecta

Study of 16 patients with Type III osteogenesis imperfecta showed marked elongation of the pedicles of the vertebrae in all cases, a deformity which was not seen in other types of the disease. Posterior rib angulation was also noted in Type III disease. These features have proved useful in suggesting the diagnosis of osteogenesis imperfecta even before long bones have fractured and in categorizing patients with osteogenesis imperfecta into the correct type for prognostic purposes.     

Congenital pseudarthrosis of the tibia associated with cleidocranial dysostosis and osteogenesis imperfecta. A case report

A neonatal boy with cleidocranial dysostosis presented with congenital pseudarthrosis of the tibia. Clinical observation later revealed he also had osteogenesis imperfecta. The osteogenesis imperfecta was classified as Type I and the congenital tibial pseudarthrosis as Type II. Cleidocranial dysostosis, osteogenesis imperfecta, and congenital pseudarthrosis of the tibia have not been previously reported to coexist in one individual.     

Osteogenesis imperfecta: cesarean deliveries in identical twins

Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery. Identical twins with severe osteogenesis imperfecta each of whom underwent a cesarean delivery with different anesthetic modalities are presented. A review of the literature and anesthetic options for cesarean delivery and postoperative analgesia for women with osteogenesis imperfecta are discussed.     

Recombinant factor VIIa after aortic valve replacement in a patient with osteogenesis imperfecta

A 26-year-old man with osteogenesis imperfecta and severe aortic regurgitation was scheduled for aortic valve replacement. As previously described by other authors the operation was difficult owing to the friability and weakness of the tissues. Mean blood losses of 153 mL per hour during the first 7 postoperative hours were observed. Despite normal coagulation indicators the bleeding did not stop and recombinant factor VIIa was applied at 40 microg/kg. Bleeding was successfully stopped after this single application.     

Advances in osteogenesis imperfecta

Considerable progress has been made in many aspects of osteogenesis imperfecta. The international Sillence classification of osteogenesis imperfecta is being expanded to include a greater range of subgroups of patients. Attempts are being made to identify the genes causing forms of osteogenesis imperfecta and related syndromes that are not caused by mutations of the Type I collagen genes. In medium-term studies, bisphosphonate treatment has been shown to be the first method of treatment to improve the clinical course of the disease significantly. Somatic cell therapy, using allogeneic bone marrow and mesenchymal stromal cell transplantation, are in their early phases of development for use in humans with osteogenesis imperfecta. Somatic gene therapy, which aims to inactivate the mutation, is being evaluated in laboratory and animal studies.     

Urinary-free amino acids in osteogenesis imperfecta

Free urinary amino acids were analyzed in patients with osteogenesis imperfecta to determine whether there were any abnormalities that could be used to improve the diagnosis and classification of this syndrome. The results obtained from 15 patients, who had either the type 1, 2, or 3 form of osteogenesis imperfecta, were compared to the values obtained from 115 age-matched controls. Elevated free amino acid levels were not found in any patient with osteogenesis imperfecta.     

Osteogenesis imperfecta with dominant inheritance and normal sclerae

Most patients with dominantly inherited osteogenesis imperfecta have blue sclerae and relatively mild symptoms. However, in a small group of families the patients have normal sclerae and this disorder has been classified as Type 4 osteogenesis imperfecta. This paper reports the clinical and radiographical features of 48 patients from 16 families with Type 4 osteogenesis imperfecta and compares the findings with those of the classical disorder with blue sclerae (Type 1 osteogenesis imperfecta). The two types are similar in usually causing a mild disease but with a wide range of severity, and in both types the rate of fracture declines in adolescence. There are, however, some significant differences apart from the colour of the sclerae. In Type 4 the first fracture more commonly occurs at birth, dentinogenesis imperfecta is more frequent than in Type 1 and bruising and nose-bleeds are less common. As in Type 1, the radiographic appearances of the bones may be normal. It is important that Type 4 osteogenesis imperfecta should be recognised because of the need for competent genetic counselling, because the management may be different from that appropriate for Type 1 and because it may be mistaken for idiopathic juvenile osteoporosis or child abuse.     

Pathologic humeral fractures

The various diseases are described which cause pathological fractures of humerus. Dependent on the prognosis and localization of the disease a survey on the surgical methods is presented ranging from curettage to exarticulation. The noninvasive treatment is left to osteogenesis imperfecta tarda.     

Intramedullary osteosynthesis for fracture associated with osteogenesis imperfecta

Our aim was to analyse the complications associated with intramedullary stabilisation of the bone fractures which are a common complication of osteogenesis imperfecta. A total of 12 fractures among six individuals with osteogenesis imperfecta were treated by intramedullary stabilisation. The mean age of the patients (three male and three female) was 19.4 years, range 7-42 years. The most common fracture site was the femoral midshaft (seven fractures). After implant removal, one new fracture and one re-fracture occurred. Operative stabilisation of fractures is a safe treatment option for osteogenesis imperfecta.     

Successful mitral valve replacement in osteogenesis imperfecta--a case report]

A 34-year-old man with osteogenesis imperfecta who underwent successful mitral valve replacement due to mitral regurgitation was reported. Cardiac disease associated with osteogenesis imperfecta is very rare and only fifteen patients were operated under the extracorporeal circulation previously. While excessive hemorrhage due to tissue fragility was observed in 7 of 15 patients, perioperative course of the case reported here was completely uneventful. The difference of hemorrhagic tendency as well as etiology of osteogenesis imperfecta will be defined according to the advance of technology in collagen genetics and biochemistry in future.