Osteogenesis imperfecta and cardiovascular diseases

Wong, Raymond M.H.; Follis, Fabrizio; Shively, Bruce K.; Wernly, Jorge A.

doi:10.1016/0003-4975(95)00706-q

Cited by 74 publications

(44 citation statements)

References 21 publications

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“…Symptomatic mitral and aortic insufficiency in OI has been reported incidentally; whereas incidence and prevalence of heart diseases in OI type I are not published. 18 When compared with reference values from heightmatched children, we found no abnormalities in lung function in children with OI. This is in line with findings of Falvo et al 19 However, in children with OI growth can be disturbed, affecting legs and arms more than the trunk and the lungs.…”

Section: Discussionmentioning

confidence: 68%

Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I

Takken

Terlingen

Helders

et al. 2004

The Journal of Pediatrics

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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 21.17 (± 0.67) and 21.41 (± 1.52) standard deviations lower compared with reference values (P < .01). Muscle strength also was significantly reduced in patients with OI, ranging from 21.24 ± 1.40 to 22.88 ± 2.67 standard deviations lower compared with reference values. ConclusionsIn 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. (J Pediatr 2004;145:813-8) O steogenesis imperfecta (OI) is a congenital connective tissue disorder. The biochemical basis in most cases involves a quantitative or qualitative abnormality in the biosynthesis of type I collagen, the principle organic component of the skeleton.1 The most common mode of transmission is autosomal dominant; in rare instances it is autosomal recessive. OI is a disorder of remarkable clinical variability, and it consists of several subtypes of which type I is the least severe, with a normal life expectancy. Major clinical characteristics of OI type I include recurrent fractures from osteopenia that often result in short stature and skeletal deformity. Additional clinical manifestations of this disease type are blue sclera, dentinogenesis imperfecta, joint laxity, and maturity-onset deafness in 50% of patients.2 OI has, depending on the severity of the disease, a large impact on functional ability. In OI type I, all patients are at least neighborhood walkers.Intolerance for exercise is an often-heard complaint from patients with OI and their parents. Fatigue limits patients with OI in their activities of daily living. These complaints are usually interpreted as a combination of proximal muscle weakness and generalized hypermobility of the joints. However, heart, lungs, and other organ systems could be involved as well, as collagen I is an important component of these organ systems.However, chronically ill patients often display a subnormal exercise capacity. This is usually a result of two main causes: hypoactivity that leads to detraining and specific pathophysiological factors that limit one or more exercise-related functio...

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Section: Discussionmentioning

confidence: 68%

Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I

Takken

Terlingen

Helders

et al. 2004

The Journal of Pediatrics

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“…This suggests that type III collagen is important for the development of skin and the cardiovascular system and for maintaining the normal physiological functions of these organs in adult life (4,5). Type III collagen is a member of the fibrillar collagen family and is colocalized with the most abundant member of the family, type I collagen, in such tissues as blood vessels and skin (6)(7)(8)(9)(10).…”

mentioning

confidence: 99%

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

Liu

Byrne

et al. 1997

Proc. Natl. Acad. Sci. U.S.A.

531

406

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Type III collagen is a fibrillar forming collagen comprising three ␣1(III) chains and is expressed in early embryos and throughout embryogenesis. In the adult, type III collagen is a major component of the extracellular matrix in a variety of internal organs and skin. Mutations in the COL3A1 gene have been implicated as a cause of type IV Ehlers-Danlos syndrome, a disease leading to aortic rupture in early adult life. To directly study the role of Col3a1 in development and disease, we have inactivated the Col3a1 gene in embryonic stem cells by homologous recombination. The mutated allele was transmitted through the mouse germ line and homozygous mutant animals were derived from heterozygous intercrosses. About 10% of the homozygous mutant animals survived to adulthood but have a much shorter life span compared with wild-type mice. The major cause of death of mutant mice was rupture of the major blood vessels, similar to patients with type IV Ehlers-Danlos syndrome. Ultrastructural analysis of tissues from mutant mice revealed that type III collagen is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs.

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“…Some OI patients develop aortic and mitral valve regurgitation and undergo valve replacement surgery. [3][4][5] On the other hand, little is known about the myocardial involvement of OI patients except for recent clinical reports. 6,7) Echocardiography in adult OI patients has shown increased LV wall thickness and diastolic dysfunction in addition to valve dysfunction and LV dilatation.…”

Section: Case Reportmentioning

confidence: 99%

Myocardial Involvement in Patients With Osteogenesis Imperfecta

et al. 2012

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SummaryMitral and aortic valve regurgitation is commonly found in osteogenesis imperfecta (OI) patients, however, little is known about the myocardial involvement in this disorder. An 82-year-old man with OI developed heart failure and was admitted to our hospital. Echocardiogram revealed severe mitral regurgitation without left ventricular (LV) dilatation, but with LV wall thickening. Histological analysis exhibited interstitial fibrosis of the myocardium in addition to myxoid changes of the mitral leaflet. These findings suggest that OI patients may develop LV remodeling together with diastolic dysfunction. (Int Heart J 2012; 53: 75-77) Key words: Osteogenesis imperfecta, Type 1 collagen, Mitral valve regurgitation, Myocardial fibrosis O steogenesis imperfecta (OI) is an inherited connective tissue disorder that is caused by mutations of genes related to collagen synthesis.1) The clinical manifestations vary strikingly depending on the subtypes of OI. Mitral or aortic valve dysfunction is one of the common cardiovascular manifestations.2-4) While collagen is one of the major constituents of heart tissue, myocardial abnormalities in OI patients have not been clearly elucidated yet. The present case report describes the cardiac pathology of an OI patient that involved interstitial fibrotic changes in the myocardium. Case ReportAn 82-year-old man with osteogenesis imperfecta (OI) was admitted to our hospital with complaints of dyspnea and fever. He had suffered from bone fractures several times since childhood. Bone deformity, blue sclera, and his medical history were clinically indicative of type I OI. His parents and children also showed pathological characteristics of OI. Two years earlier, he had been diagnosed with mitral regurgitation and atrial fibrillation with rapid ventricular response, and started taking carvedilol (10 mg/day) to control his heart rate.On admission, his height was 155 cm, weight was 38 kg, and blue sclera was noted. His blood pressure was 150/70 mmHg and his heart rate was irregular (approximately 80-90 beats per minute). On auscultation, there was a prominent grade 3 holosystolic murmur at the cardiac apex. Moist rales were heard over both lungs. Chest radiography showed moderate cardiomegaly with a cardiothoracic ratio of 60%, bilateral pleural effusions, and consolidations. An electrocardiogram showed atrial fibrillation with complete right bundle branch block. A transthoracic echocardiogram revealed severe mitral regurgitation due to bileaflet prolapses and mild aortic regurgitation. The left atrium was mildly dilated. The size of the left ventricle (LV) and ejection fraction were normal (Table). Laboratory results revealed elevated white blood cell counts and C-reactive protein level. The concentration of plasma B-type natriuretic peptide was also markedly elevated (230 pg/mL).Diagnoses of heart failure and aspiration pneumonia were subsequently made. He was unresponsive to medical treatment with carperitide, furosemide, and antibiotics, and died of septic shock after 6 weeks o...

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Osteogenesis imperfecta and cardiovascular diseases

Cited by 74 publications

References 21 publications

Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I

Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

Myocardial Involvement in Patients With Osteogenesis Imperfecta

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