Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Endocardial fibroelastosis is characterized by a porcelain-like thickening of the endocardium, resulting in a marked increase in echodensity of the endocardium, as well as ventricular dilatation and aortic atresia. With improvement in prenatal ultrasound, this condition can be suspected in utero on the basis of ventricular enlargement, poor ventricular contractility, and marked echodensity of the endocardial surface. We present two cases in which such conditions were found on prenatal M-mode echocardiography and two-dimensional directed pulsed Doppler. Ventriculomegaly and hypocontractility of the ventricle are, however, nonspecific for such conditions; the diagnosis can be made accurately only by pathology. When such findings appear on ultrasound, all efforts should be made to deliver the patient in a perinatal center for optimal neonatal surgery to improve the survival of the newborn.
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PMID:Fetal echocardiographic signs of congenital endocardial fibroelastosis. 296 84

Diffuse interstitial mononuclear cell myocarditis of unidentified but probable viral etiology in patients with endocardial fibroelastosis (EFE) suggested a possible pathogenetic relationship. Clinical and autopsy findings were reviewed in 64 children with one or both conditions. Five had myocarditis only and 18 had idiopathic EFE only, but in 41, both lesions coexisted and demonstrated the progression of myocarditis into idiopathic EFE. Patients with myocarditis but without EFE all died within 2 weeks of the onset of symptoms. With longer survival, myocarditis subsided but EFE and myocardial hypertrophy increased progressively. Marked EFE and hypertrophy, with trivial or no residual myocarditis, occurred with survival times over 4 months. Mitral insufficiency due to ventricular dilatation and a papillary muscle displacement commonly developed with prolonged survival. The results of the study are consistent with the hypothesis that in some patients interstitial myocarditis may produce left ventricular dilatation of a duration sufficient for the development of myocardial hypertrophy and EFE. These nonspecific responses to increased expenditure of myocardial energy and increased mural tension produce ventricular compensation, but result in a marked loss of cardiac reserve. Relative mitral insufficiency perpetuates the cycle of congestive failure and diminishing cardiac reserve by causing further ventricular dilatation with consequent myocardial hypertrophy.
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PMID:The progression of interstitial myocarditis to idiopathic endocardial fibroelastosis. 506 May 81

We studied by serial cardiac catheterisation eight patients with the dilated form of primary endocardial fibroelastosis in whom congestive heart failure disappeared with treatment. All remained without symptoms for at least three years before recatheterization. Four patients showed regression of the abnormal electrocardiographic findings, three showed persistence, and one showed progression of electrocardiographic left ventricular overload pattern. On first cardiac catheterisation all patients had a dilated left ventricle with a mean ejection fraction of 0.36. In six of the patients repeat cardiac catheterisation showed left ventricular dilatation with a diminished ejection fraction (mean 0.32). Left ventricular end-diastole pressure was raised (12 to 28 mmHg, mean 19 mmHg). In this group were included the three patients with persistence and one with progression of the abnormal electrocardiographic findings, and two of the four patients with regression of these findings. The highest left ventricular end-diastolic pressure was found in a patient in whom the abnormal electrocardiographic findings almost reverted to normal. In the two remaining patients with reversion of the electrocardiographic abnormalities repeat cardiac catheterisation showed nothing abnormal. Our findings indicate that "cure" in primary endocardial fibroelastosis is incomplete. These findings may be the cause of sudden death or late clinical deterioration in some reported patients with "cured" primary endocardial fibroelastosis. The electrocardiogram is of little value in assessing these processes.
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PMID:Persistent left ventricular disease in clinically "cured" primary endocardial fibroelastosis. 622 48

Endocardial fibroelastosis is an uncommon congenital heart disease in dogs that may be manifested by signs of left-sided congestive heart failure. A three-month-old, male, Fila Brasileiro dog developed signs of generalised heart failure. Physical examination revealed normal temperature, ascites, and pale and cyanotic mucous membranes. The pup died just after radiography which revealed ascites, hepatomegaly, severe cardiac enlargement and pulmonary oedema. At necropsy, serosanguineous fluid in the thorax and abdomen, pulmonary oedema, right ventricular dilatation, hypertrophy and dilatation of the left ventricle, and mitral valve incompetence were observed. The histopathological examination demonstrated that the thickening of the endocardium of the left atrium and left ventricle was due to the presence of elastic and collagen fibres, although there were no signs of an inflammatory process.
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PMID:Endocardial fibroelastosis in a dog. 912 86

We sought to identify echocardiographic markers that might be useful for managing fetuses with significant aortic stenosis. The study was a retrospective review of fetal echocardiographic studies and postnatal outcomes of all fetuses diagnosed with significant aortic stenosis who did not have a hypoplastic left ventricle on the initial echocardiogram. Where possible, fetal echocardiographic measurements included the aortic, mitral, pulmonary, and tricuspid valve annulus sizes; left ventricular dimensions and volume; septal and left ventricular wall thicknesses; and echocardiographic Doppler interrogation of the left heart and oval fossa. Observations also included an assessment of ascites, pericardial effusion, and endocardial fibroelastosis. Prenatal measurements were compared to postnatal outcomes. Four patients (group 1) had either clinically successful relief of their aortic obstruction (n = 3) or required no intervention (n = 1). Five fetuses evolved to the hypoplastic left heart syndrome (group 2). These infants demonstrated little or no growth in left ventricular, aortic valve, or mitral valve dimensions on serial examination. They also more often exhibited mitral stenosis, severe restriction of interatrial shunting, and early to mid second trimester left ventricular dilatation. Serial measurements of fetal cardiac size and function are helpful for predicting the postnatal outcome of fetuses with aortic stenosis.
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PMID:Prenatal diagnosis of severe aortic stenosis. 917 24

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-1beta (NRG-1beta, 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-1beta/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-1beta 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-1beta 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-1beta/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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PMID:Gab family proteins are essential for postnatal maintenance of cardiac function via neuregulin-1/ErbB signaling. 1757 Nov 62

Pediatric cardiomyopathies are a heterogenous group of conditions of which dilated cardiomyopathies are the most common clinicomorphologic subtype. However, the etiology and pathogenesis of many cases of dilated cardiomyopathies remain unknown. We describe a series of 5 cases of a rare but clinically and histologically distinctive dilated cardiomyopathy that was uniformly lethal in early infancy. The 5 cases include 2 pairs of siblings. There was parental consanguinity in 1 of the 2 pairs of siblings. Death occurred in early infancy (range, 22-67 days; mean, 42 days) after a short history of general lethargy, decreased feeding, respiratory distress, or cyanosis. There was no specific birth or early neonatal problems. Autopsy revealed congestive cardiac failure and enlarged, dilated hearts with ventricular dilatation more pronounced than atrial dilatation, and endocardial fibroelastosis. Histology showed prominent hypertrophic nuclear changes of cardiac myofibers and markedly increased myocyte mitotic activity including occasional atypical mitoses. Immunohistochemical staining for Mib1 showed a markedly increased proliferative index of 10% to 20%. Ancillary investigations, including molecular studies, did not reveal a primary cause for the cardiomyopathies. This distinctive dilated cardiomyopathy characterized by unusual histologic features of myocyte nuclear hypertrophy and marked mitotic activity is lethal in early infancy. Its occurrence in 2 pairs of siblings suggests familial inheritance. Although the underlying molecular pathogenesis remains to be elucidated, it is important to recognize this distinctive entity for purposes of genetic counseling.
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PMID:Mitogenic cardiomyopathy: a lethal neonatal familial dilated cardiomyopathy characterized by myocyte hyperplasia and proliferation. 2030 41