Impairment of diastolic function in adult patients affected by osteogenesis imperfecta clinically asymptomatic for cardiac disease: Casuality or causality?

Migliaccio, Silvia; Bárbaro, Giuseppe; Fornari, Rachele; Lorenzo, G. Di; Celli, Mauro; Lubrano, Carla; Falcone, Stefania; Fabbrini, Elisa; Greco, Emanuela A.; Zambrano, Anna; Brama, Marina; Prossomariti, Giancarlo; Marzano, Sara; Marini, Mario; Conti, Francesco; D’Eufemia, P; Spera, Giovanni

doi:10.1016/j.ijcard.2007.10.051

Cited by 35 publications

(52 citation statements)

References 16 publications

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“…13 In the current study, pulmonary vein wave velocity data in OI patients compared to the control subjects showed a significant decrease in the a-wave reversal velocity and duration and an increase in the peak systolic and diastolic ratio. The likely explanation of such changes in OI patients is the greater stiffness of the myocardial tissue and decreased elasticity, leading to echocardiographic changes and altered myocardial relaxation.…”

Section: Discussionsupporting

confidence: 49%

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Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta

Al-Senaidi

Ullah

Javad

et al. 2015

SQUMJ

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abstract:Objectives: Structural and functional cardiovascular abnormalities have been reported in adults with osteogenesis imperfecta (OI); however, there is a lack of paediatric literature on this topic. This study aimed to investigate cardiovascular abnormalities in children with OI in comparison to a control group. Methods: This case-control study was conducted at the Sultan Qaboos University Hospital in Muscat, Oman, between May 2013 and August 2014. Data from eight patients with OI and 24 healthy controls were compared using conventional and tissue Doppler echocardiography (TDE). Results: The OI group had significantly lower peak early mitral valve flow velocity (P = 0.027), peak a-wave reversal in the pulmonary vein (P = 0.030) and peak early diastolic velocity of the mitral valve and upper septum (P = 0.001 each). The peak late diastolic velocities of the mitral valve (P = 0.002) and the upper septum (P = 0.037) were significantly higher in the OI group; however, the peak early/late diastolic velocity ratios of the mitral valve (P = 0.002) and upper septum (P = 0.001) were significantly lower. Left ventricular dimensions and aortic and pulmonary artery diameters were larger in the OI group when indexed for body surface area. Both groups had normal systolic cardiac function. Conclusion: Children with OI had normal systolic cardiac function. However, changes in myocardial tissue Doppler velocities were suggestive of early diastolic cardiac dysfunction. They also had increased left ventricular dimensions and greater vessel diameters. These findings indicate the need for early and detailed structural and functional echocardiographic assessment and follow-up of young patients with OI.

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Section: Discussionsupporting

confidence: 49%

“…This has been similarly reported in both adult and paediatric OI patients. 7,13 The incidence of mitral valve prolapse in OI is about 3-8%; 6,7 however, none of the patients in the current study had mitral valve prolapse or aortic valve regurgitation. The studied subjects had normal systolic cardiac function and IVRT.…”

mentioning

confidence: 59%

Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta

Al-Senaidi

Ullah

Javad

et al. 2015

SQUMJ

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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] . Echocardiography should be performed in patients with scoliosis or chest wall deformity, heart murmurs, or any cardiac or pulmonary symptomology with referral to appropriate specialists.…”

Section: Cardiovascular Manifestationsmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

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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“…[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. 6,7) While LV hypertrophy and stiffness in OI patients are assumed to be related to mechanical weakness of the entire heart secondary to the reduced amount of type I collagen or a structural defect of type I collagen protein, little is known about the pathological mechanisms underlying the LV remodeling.…”

Section: Case Reportmentioning

confidence: 99%

“…6,7) Echocardiography in adult OI patients has shown increased LV wall thickness and diastolic dysfunction in addition to valve dysfunction and LV dilatation. 6,7) While LV hypertrophy and stiffness in OI patients are assumed to be related to mechanical weakness of the entire heart secondary to the reduced amount of type I collagen or a structural defect of type I collagen protein, little is known about the pathological mechanisms underlying the LV remodeling. Unexpectedly, however, a study that used a mouse model of OI showed a paradoxical effect where the type I collagen defect reduced the stiffness of the LV chamber, 8) thus calling for further mechanistic analyses including histological examination in humans.…”

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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Impairment of diastolic function in adult patients affected by osteogenesis imperfecta clinically asymptomatic for cardiac disease: Casuality or causality?

Cited by 35 publications

References 16 publications

Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta

Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta

Osteogenesis imperfecta

Myocardial Involvement in Patients With Osteogenesis Imperfecta

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