Heredity in primary endocardial fibroelastosis.

Westwood, Michael; Harris, Roger C.; Burn, J.L.; Barson, A J

doi:10.1136/hrt.37.10.1077

Cited by 56 publications

(23 citation statements)

References 9 publications

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“…Clinically, primary EFE is found mainly in infants, children, and adolescents and is frequently accompanied by contractile deterioration similar to DCM. Although there have been some reports suggesting the heritable causality of primary EFE (37,38), the precise pathogenetic mechanisms have not been elucidated to date. These DKO mice may provide the first mouse model of EFE.…”

Section: Discussionmentioning

confidence: 99%

“…The endocardial deposition of elastic fibers and collagen was not found in the neonates of DKO, but was found to some extent in all of the DKO mice after 3 weeks (Supplemental Figure 5A and data not shown). These endocardium-specific changes were coincident with the pathological features of endocardial fibroelastosis (EFE), the genetic causality of which has not been fully elucidated to date (37,38). We further examined the vasculature in the heart by immunostaining with antivWF Ab.…”

Section: Figurementioning

confidence: 99%

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Gab family proteins are essential for postnatal maintenance of cardiac function via neuregulin-1/ErbB signaling

et al. 2007

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Grb2-associated binder (Gab) family of scaffolding adaptor proteins coordinate signaling cascades downstream of growth factor and cytokine receptors. In the heart, among EGF family members, neuregulin-1β (NRG-1β, a paracrine factor produced from endothelium) induced remarkable tyrosine phosphorylation of Gab1 and Gab2 via erythroblastic leukemia viral oncogene (ErbB) receptors. We examined the role of Gab family proteins in NRG-1β/ErbB-mediated signal in the heart by creating cardiomyocyte-specific Gab1/Gab2 double knockout mice (DKO mice). Although DKO mice were viable, they exhibited marked ventricular dilatation and reduced contractility with aging. DKO mice showed high mortality after birth because of heart failure. In addition, we noticed remarkable endocardial fibroelastosis and increase of abnormally dilated vessels in the ventricles of DKO mice. NRG-1β induced activation of both ERK and AKT in the hearts of control mice but not in those of DKO mice. Using DNA microarray analysis, we found that stimulation with NRG-1β upregulated expression of an endothelium-stabilizing factor, angiopoietin 1, in the hearts of control mice but not in those of DKO mice, which accounted for the pathological abnormalities in the DKO hearts. Taken together, our observations indicated that in the NRG-1β/ErbB signaling, Gab1 and Gab2 of the myocardium are essential for both maintenance of myocardial function and stabilization of cardiac capillary and endocardial endothelium in the postnatal heart.

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Section: Discussionmentioning

confidence: 99%

Section: Figurementioning

confidence: 99%

Gab family proteins are essential for postnatal maintenance of cardiac function via neuregulin-1/ErbB signaling

et al. 2007

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“…As methods to visualize the dynamics of the heart in vivo developed, the lack of proper contraction became the focus of attention and the descriptive terminology changed to dilated cardiomyopathy. Pedigrees with X-linked EFE or cardiomyopathy were reported in the seventies [Fixler et al, 1970;Lindenbaum et al, 1973;Westwood et al, 1975]. Neustein et al [1979] described morphological mitochondrial abnormalities in autopsied and biopsied heart specimens in a family with X-linked cardiomyopathy with early onset and fatal course.…”

Section: Phenotypic Spectrum Physical Findingsmentioning

confidence: 98%

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update

Barth

Valianpour

Bowen

et al. 2004

American J of Med Genetics Pt A

261

239

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional impairments and 3-methylglutaconic aciduria that maps to Xq28. The associated G4.5 or TAZ gene has been identified but the encoded proteins have not yet been characterized. Following the prediction that the gene encodes one or more acyltransferases, lipid studies have shown a deficiency of cardiolipin, especially its tetralinoleoyl form (L(4)-CL). Deficiency of L(4)-CL was subsequently demonstrated in a variety of tissues, and determination in thrombocytes or cultured skin fibroblasts is now the most specific biochemical test available. BTHS is the first identified inborn error of metabolism that directly affects cardiolipin, a component of the inner mitochondrial membrane, necessary for proper functioning of the electron transport chain. We report here the finding of deficient docosahexaenoic acid and arachidonic acid in a proportion of patients with BTHS. The initial impression of a uniformly lethal infantile disease has to be modified. Age distribution in 54 living patients ranges between 0 and 49 years and peaks around puberty. Mortality is the highest in the first 4 years. The apex of the survival curve around puberty and the emergence of adults may reflect a dynamic shift towards increased survival. This trend is exemplified in a large pedigree previously published.

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“…Elle se traduit par une hyperéchogénicité de l'endocarde [56]. Au plan anatomopathologique, elle est caractérisée par un dépôt de collagène et d'élastine, une hypertrophie ventriculaire et un épaississement de l'endocarde [57][58][59]. Elle est associée à une dysfonction ventriculaire sévère, avec un risque élevé de décès [56].…”

Section: Anomalies Morphologiques Cardiaques Et Bloc Auriculoventricuunclassified

Échographie et Doppler fœtaux dans le bloc auriculoventriculaire congénital d’origine immunologique

Monsarrat

Houfflin‐Debarge

Richard

et al. 2009

Gynécologie Obstétrique & Fertilité

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Heredity in primary endocardial fibroelastosis.

Cited by 56 publications

References 9 publications

Gab family proteins are essential for postnatal maintenance of cardiac function via neuregulin-1/ErbB signaling

Gab family proteins are essential for postnatal maintenance of cardiac function via neuregulin-1/ErbB signaling

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update

Échographie et Doppler fœtaux dans le bloc auriculoventriculaire congénital d’origine immunologique

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