J Pediatr. 2004 Dec;145(6):813-8.
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I.
Takken T, Terlingen HC, Helders PJ, Pruijs H, Van der Ent CK, Engelbert RH.
Department of Pediatric Physical Therapy & Exercise Physiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, The Netherlands. t.takken@wkz.azu.nl
OBJECTIVE: To evaluate cardiopulmonary function, muscle strength, and cardiopulmonary fitness (VO 2 peak) in patients with osteogenesis imperfecta (OI). STUDY DESIGN: In 17 patients with OI type I (mean age 13.3 +/- 3.9 years) cardiopulmonary function was assessed at rest using spirometry, plethysmography, electrocardiography, and echocardiography. Exercise capacity was measured using a maximal exercise test on a bicycle ergometer and an expired gas analysis system. Muscle strength in shoulder abductors, hip flexors, ankle dorsal flexor, and grip strength were measured. All results were compared with reference values. RESULTS: Cardiopulmonary function at rest was within normal ranges, but when it was compared with normal height for age and sex, vital capacities were reduced. Mean absolute and relative VO 2 peak were respectively -1.17 (+/- 0.67) and -1.41 (+/- 1.52) standard deviations lower compared with reference values ( P < .01). Muscle strength also was significantly reduced in patients with OI, ranging from -1.24 +/- 1.40 to -2.88 +/- 2.67 standard deviations lower compared with reference values. CONCLUSIONS: In patients with OI type I, no pulmonary or cardiac abnormalities at rest were found. The exercise tolerance and muscle strength were significantly reduced in patients with OI, which might account for their increased levels of fatigue during activities of daily living.
Kyobu Geka. 2002 Nov;55(12):1011-3.
Valvular heart surgery in osteogenesis imperfecta
Ohuchi S, Koizumi J, Kin H, Ohsawa S, Izumoto H, Ishihara K, Kawazoe K.
Iwate Medical University Memorial Heart Center, Morioka, Japan.
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.
J Heart Valve Dis. 2002 Sep;11(5):751-4.
Double valve replacement in a patient with osteogenesis imperfecta.
Chrysant GS, Cassivi SD, Carey CF, Sundt TM.
Division of Cardiovascular Diseases, Washington University School of Medicine, St Louis, Missouri 63110-1010, USA.
Valvular heart disease (predominantly aortic and mitral valve disease) has been well documented in patients with osteogenesis imperfecta. Twenty-two prior reports of valve replacement and/or repair have been published. Mortality from cardiac surgery in these patients has been high, particularly in those receiving double valve prostheses. Here, a patient is described with advanced cardiovascular disease who underwent successful aortic and mitral valve replacement. This represents the second reported survival of double valve replacement in osteogenesis imperfecta and a reduced mortality rate for this procedure.
Circ Res. 2000 Oct 13;87(8):663-9.
Myocardial mechanics and collagen structure in the osteogenesis imperfecta murine (oim).
Weis SM, Emery JL, Becker KD, McBride DJ Jr, Omens JH, McCulloch AD.
Department of Bioengineering, University of California, San Diego, La Jolla, CA 92093-0412, USA.
Because the amount and structure of type I collagen are thought to affect the mechanics of ventricular myocardium, we investigated myocardial collagen structure and passive mechanical function in the osteogenesis imperfecta murine (oim) model of pro-alpha2(I) collagen deficiency, previously shown to have less collagen and impaired biomechanics in tendon and bone. Compared with wild-type littermates, homozygous oim hearts exhibited 35% lower collagen area fraction (P:<0.05), 38% lower collagen fiber number density (P:<0.05), and 42% smaller collagen fiber diameter (P:<0.05). Compared with wild-type, oim left ventricular (LV) collagen concentration was 45% lower (P:<0.0001) and nonreducible pyridinoline cross-link concentration was 22% higher (P:<0.03). Mean LV volume during passive inflation from 0 to 30 mm Hg in isolated hearts was 1.4-fold larger for oim than wild-type (P:=NS). Uniaxial stress-strain relations in resting right ventricular papillary muscles exhibited 60% greater strains (P:<0.01), 90% higher compliance (P:=0.05), and 64% higher nonlinearity (P:<0.05) in oim. Mean opening angle, after relief of residual stresses in resting LV myocardium, was 121+/-9 degrees in oim compared with 45+/-4 degrees in wild-type (P:<0.0001). Mean myofiber angle in oim was 23+/-8 degrees greater than wild-type (P:<0.02). Decreased myocardial collagen diameter and amount in oim is associated with significantly decreased fiber and chamber stiffness despite modestly increased collagen cross-linking. Altered myofiber angles and residual stress may be beneficial adaptations to these mechanical alterations to maintain uniformity of transmural fiber strain. In addition to supporting and organizing myocytes, myocardial collagen contributes directly to ventricular stiffness at high and low loads and can influence stress-free state and myofiber architecture.
J Heart Valve Dis. 1998 Sep;7(5):510-4.
Aortic valve surgery in osteogenesis imperfecta: report of two cases and review of the literature.
Zegdi R, D'Attellis N, Fornes P, Fuzellier JF, Carteaux JP, Fabiani JN, Carpentier A.
Department of Cardiovascular Surgery, Broussais Hospital, Paris, France.
Aortic insufficiency is a well known but uncommon valvular dysfunction in patients with osteogenesis imperfecta. In such cases, aortic valve surgery has rarely been performed, and carries a high risk of perioperative complications. We report two patients with osteogenesis imperfecta, who underwent elective successful aortic valve replacement. The surgical problems encountered in this connective tissue disorder are also reviewed.
Tidsskr Nor Laegeforen. 1997 Feb 10;117(4):519-20.
Cardiac manifestations in osteogenesis imperfecta. A case report and therapeutic implications
Myrmel T, Christensen O, Lunde P.
Kirurgisk avdeling, Regionsykehuset i Tromso.
Osteogenesis imperfecta is an hereditary defect in the synthesis of collagen fibres. The disease can cause cardiac defects, such as aortic and mitral incompetence. Surgical repair of these defects is complicated by tissue friability and bleeding problems. We describe a case where an incompetent aortic valve was successfully replaced by a mechanical prosthesis.
J Cardiovasc Surg (Torino). 1996 Dec;37(6):621-2.
Osteogenesis imperfecta and coronary artery surgery. A case report.
Reguillo F, De La Llana R, Castanon J, Alswies M, Trujillo J, Rodriguez G, Ramos W, O'Connor F, Gil-Aguado M.
Hospital Universitario San Carlos, Universidad Complutense de Madrid, Spain.
A new case of Osteogenesis Imperfecta (OI) suffering ischemic heart disease is reported. The patient was successfully operated on in our Institution and the bibliographic search showed only another case of such an association of diseases successfully treated by surgery. This patient proves that coronary artery surgery procedures are possible when OI complicates the cardiac ischemic syndrome.
Ann Thorac Surg. 1995 Nov;60(5):1395-7.
Comment in:
Ann Thorac Surg. 1996 Apr;61(4):1294.
Combined valve replacement and coronary bypass grafting in osteogenesis imperfecta.
Almassi GH, Hughes GR, Bartlett J.
Department of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee 53226, USA.
Open cardiac procedures in osteogenesis imperfecta have been associated with a high mortality rate. A patient with osteogenesis imperfecta underwent successful aortic valve replacement and coronary artery bypass grafting along with closure of a patent foramen ovale in preparation for a planned hip replacement.
Ann Thorac Surg. 1995 Nov;60(5):1439-43.
Comment in:
Ann Thorac Surg. 1996 Apr;61(4):1294.
Osteogenesis imperfecta and cardiovascular diseases.
Wong RS, Follis FM, Shively BK, Wernly JA.
Division of Thoracic and Cardiovascular Surgery, University of New Mexico, Albuquerque 87131-5341, USA.
Aortic and mitral valvular insufficiency in patients with osteogenesis imperfecta result from an underlying defect in connective tissue formation. The surgical cases reported in the literature have included mechanical and bioprosthetic valve replacement as well as attempts at repair and reconstruction. Despite complications related to bleeding and tissue friability, acceptable results have been obtained. In this report, we describe aortic regurgitation secondary to osteogenesis imperfecta treated with homograft replacement. The unique cardiovascular complications of osteogenesis imperfecta and the available therapeutic options are discussed in light of the literature review.
Kyobu Geka. 1996 Apr;49(4):294-6.
Left ventricular rupture following aortic and mitral valve replacement in a patient with osteogenesis imperfecta: a case report
Ichikawa H, Ishikawa S, Otaki A, Takahashi T, Sato Y, Koyano T, Suzuki M, Takao M, Morishita Y.
Second Department of Surgery, Gunma University School of Medicine, Maebashi, Japan.
Intraoperative left ventricular rupture (type I) occurred following aortic and mitral valve replacement in 62-year-old man with osteogenesis imperfecta. Re-replacement of the mitral valve and the repair of left ventricular rupture were successfully performed. However, the patient died suddenly 3 days after the operation. Retroperitoneal bleeding due to the insertion of a continuous hemofiltration catheter via the femoral vein was detected at autopsy. Seven patients who underwent double valve replacements for aortic and mitral disease with osteogenesis imperfecta were reported with poor surgical results. We report our patient and discuss the relationship between osteogenesis imperfecta and left ventricular rupture.
Dtsch Med Wochenschr. 1994 Feb 25;119(8):257-60.
Comment in:
Dtsch Med Wochenschr. 1994 Aug 5;119(31-32):1101.
Acute mitral insufficiency in osteogenesis imperfecta
Krahwinkel W, Kober R, Horstkotte D, Borchard F, Winter J, Strauer BE, Konigshausen T.
Medizinische Klinik, Krankenhaus Gerresheim, Kliniken der Landeshauptstadt Dusseldorf.
A 56-year-old woman with known osteogenesis imperfecta tarda but no obvious sign of cardiac disease developed increasing dyspnoea, eventually even at rest, with blood-streaked sputum over a period of 10 days. The chest radiograph demonstrated intraalveolar pulmonary oedema. Transthoracic echocardiography revealed as the likely cause of these signs chordal rupture of the anterior leaflet of the mitral valve with mitral regurgitation. After treatment of the cardiac failure with frusemide (up to 500 mg daily intravenously), nitrates and captopril (25 mg daily by mouth) the diagnosis was confirmed by transoesophageal echocardiography. Elective replacement of the mitral and aortic valves was performed 6 months later. Acid mucopolysaccharides were demonstrated histologically in the valvar stroma, a finding consistent with osteogenesis imperfecta. Echocardiography should be performed routinely in connective-tissue disease to reveal any possible cardiovascular involvement.
Pediatr Pathol. 1992 May-Jun;12(3):425-31.
Osteogenesis imperfecta and Ebstein's anomaly: a case report with autopsy findings.
Warshaver Y, Bearer C, Belchis DA.
University of California, Santa Cruz 95064.
Osteogenesis imperfecta is an inherited disorder of collagen synthesis. It has a wide range of phenotypic expressions, but cardiovascular anomalies tend to be rare. When they do occur, they usually consist of aortic or mitral valve disease. We report an autopsy case of a 36-week gestation infant with coexisting osteogenesis imperfecta and Ebstein's anomaly. The simultaneous occurrence of two relatively rare entities may reflect a generalized expression of an underlying collagen synthesis defect.
Can J Cardiol. 1987 Apr;3(3):132-5.
Successful aortic valve replacement in osteogenesis imperfecta: with special emphasis on peri-operative management.
Gerlach PA, Rosensweig J, Ramanathan KB.
Valvular heart disease is a recognized feature of the connective tissue diseases. It occurs to a variable extent in osteogenesis imperfecta and frequently involves the aortic valve. Replacement of the aortic valve, although required, may be complicated by bleeding problems secondary to platelet dysfunction and capillary fragility. A successful aortic valve replacement in a patient with type I osteogenesis imperfecta is described with special reference to hematologic manipulations to control bleeding post-operatively.
Eur J Pediatr. 1989 Dec;149(3):184-7.
Osteogenesis imperfecta in childhood: cardiac and renal manifestations.
Vetter U, Maierhofer B, Muller M, Lang D, Teller WM, Brenner R, Frohneberg D, Worsdorfer O.
Kinderklinik, Universitat Ulm, Federal Republic of Germany.
We examined 58 children aged 1-16 years with various forms of osteogenesis imperfecta (OI). Congenital cardiac malformations were diagnosed in 4 children (valvular aortic stenosis, 2 with atrial septal defect II, Fallot Tetralogy). Two additional children developed holosystolic mitral valve prolapse and regurgitation. Children suffering from a severe clinical course (type III according to the Sillence classification) showed aortic root dilatation (28%) and increased septal (40%) and posterior left ventricular wall thickening (68%) on initial evaluation. All three parameters were significantly correlated to body surface area. Kidney stones and renal papillary calcifications were detected in 4 children. Cardiovascular abnormalities and nephrolithiasis may be important extraskeletal manifestations of childhood OI.
A 53-year-old man with osteogenesis imperfecta underwent valve replacement and coronary artery bypass surgery. Unexplained symptoms of dyspnea and fatigue in the late postoperative period prompted further evaluation. Transthoracic echocardiography demonstrated obstruction of the right ventricular outflow tract and pulmonary artery by a mass, with a maximum gradient of 50 mm Hg. Multiplane transesophageal echocardiography revealed that the mediastinal hematoma was more extensive than was suggested by the transthoracic echocardiogram. This finding prompted the decision to resort to a more extensive surgical procedure. Surgical drainage continued until no residual hematoma could be visualized by multiplane transesophageal echocardiography. This case report demonstrates the value of multiplane transesophageal echocardiography in the assessment of mediastinal masses.
A 56-year-old woman with known osteogenesis imperfecta tarda but no obvious sign of cardiac disease developed increasing dyspnoea, eventually even at rest, with blood-streaked sputum over a period of 10 days. The chest radiograph demonstrated intraalveolar pulmonary oedema. Transthoracic echocardiography revealed as the likely cause of these signs chordal rupture of the anterior leaflet of the mitral valve with mitral regurgitation. After treatment of the cardiac failure with frusemide (up to 500 mg daily intravenously), nitrates and captopril (25 mg daily by mouth) the diagnosis was confirmed by transoesophageal echocardiography. Elective replacement of the mitral and aortic valves was performed 6 months later. Acid mucopolysaccharides were demonstrated histologically in the valvar stroma, a finding consistent with osteogenesis imperfecta. Echocardiography should be performed routinely in connective-tissue disease to reveal any possible cardiovascular involvement.
A hitherto unrecognized case of van der Hoeve's syndrome complicated by Ebstein's anomaly, and prolapse of the mitral and aortic valves was reported. A 46-year-old woman presented with blue sclera, osteogenesis imperfecta and a hearing loss, which are typical symptoms of this syndrome. The electrocardiogram showed a type B WPW syndrome. The phonocardiogram showed a loud and widely split first heart sound, an accentuated protodiastolic extrasound, a decrescendo regurgitant systolic murmur, and a presystolic murmur. The x descent of the jugular phlebogram was obliterated by a markedly increased c wave. Based on M-mode and two-dimensional echocardiograms, 1) the interventricular septal motion was paradoxical and the closure of the tricuspid valve was delayed, 2) the septal tricuspid leaflet was displaced toward the apex from its normal annular insertion on the apical four-chamber view, 3) the three leaflets of the tricuspid valve were abnormally elongated, 4) the anterior mitral leaflet and the non-coronary cusp of the aortic valve were elongated and prolapsed. Doppler echocardiography detected severe tricuspid and mild mitral regurgitations. We suggest that the development of Ebstein's anomaly is possibly related to that of osteogenesis imperfecta genetically and that not only Ebstein's anomaly but a connective tissue disorder contributes to the elongated and prolapsed leaflets.
Fifty-eight fetuses were studied with use of diagnostic real-time and M-mode ultrasound between 15 and 40 weeks of gestation in which the chest circumference, biventricular outer dimension of the heart, biparietal diameter, head circumference, abdominal circumference, and femur length were measured. The chest circumference correlated with the biparietal diameter (r = 0.978), head circumference (r = 0.977), abdominal circumference (r = 0.989), femur length (r = 0.983), and biventricular outer dimension (r = 0.972). Regression analysis with predicted mean and 95% and 5% confidence limits demonstrated a linear relationship between the chest circumference and the following: biparietal diameter, head circumference, abdominal circumference, femur length, and biventricular outer dimension. Four representative cases (triploidy [69,XXX], osteogenesis imperfecta, intrauterine growth retardation, and renal agenesis) illustrate the usefulness of the data when thoracic hypoplasia is suspected.
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