Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Asplenia syndrome is usually associated with complex congenital cardiovascular defects. These patients often succumb to overwhelming infections. A complete immunological evaluation was therefore conducted on 13 consecutive patients with asplenia syndrome and 12 age-matched patients with congenital heart disease but without evident splenic problems. IgG, IgA, IgM and C3 and C4 values were normal for age in all subjects studied. T cell subsets, including the percentage of CD3, and CD4 cells and the CD4/CD8 ratio were significantly different in patients and controls (P less than 0.01, respectively). Lymphoproliferative responses to mitogens (ConA, concanavalin A, phytohemagglutinin and pokeweed mitogen) were also decreased in patients. Fc-mediated clearance of sensitized autologous erythrocytes was significantly impaired in patients (n = 13) when compared with age-matched controls (n = 5) (clearance t1/2 59.0 +/- 9.6 minutes vs. 12.5 +/- 1.6 minutes, P less than 0.001). Thus profoundly impaired reticuloendothelial clearance and decreased T cell function might account for the life-threatening infections frequently seen in patients with congenital asplenia syndrome.
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PMID:Immunologic study of the asplenia syndrome. 146 8

Idiopathic dilated cardiomyopathy (IDC) is a heart disease of unknown aetiology characterised by impaired ventricular function usually associated with dilatation of the cardiac chambers. In order to test the hypothesis of an immunological cause for the disease at the genetic level, we performed linkage analysis between the putative disease locus and some of the potential candidate genes involved in the immune response or coding for the targets for autoantibodies in a large multigeneration family (63 members) from southern Italy with autosomal dominant transmission of the disease. Twenty-nine polymorphic markers on 18 different chromosomal locations were investigated, including markers linked to the genes coding for the HLA antigens, the immunoglobulin heavy and light chains, the receptors for the immunoglobulin Fc fragments, the subunits of the T cell receptor and the associated CD3, CD4, CD8, and CD45 antigens, interleukins 1, 3, 4, 5, 6, 9, and 11, the interleukin 1 and 2 receptors, and the genes coding for the beta 1 adrenoreceptor, the adenine nucleotide translocator-1, and the cardiac alpha and beta myosin heavy chains. No evidence for genetic linkage to IDC was found at any of these candidate loci. These results indicate that the still unidentified IDC gene maps outside several loci involved in the regulation of immune reactivity.
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PMID:Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree. 783 53

Cardiac myosin-induced myocarditis proved to be a valuable virus-free murine model with which to investigate autoimmunological mechanisms in inflammatory heart disease. The disease was shown to be T cell-mediated. In this contribution the functional role of CD4 and CD8 molecules and the conditions that are required to make the cardiac tissue susceptible to an autoimmune attack are discussed.
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PMID:Cellular immune mechanisms in myosin-induced myocarditis. 868 7

Peripartum cardiomyopathy is a classic but uncommon entity in African women about which there is little etiologic understanding. From January 1990 to March 1996 a series of 30 cases of peripartum cardiomyopathy was collected at the Principal Hospital in Dakar, Senegal. Peripartum cardiomyopathy was defined as the occurrence of cardiac insufficiency in a woman with no previous history of heart disease, during the period between the second and twentieth weeks after delivery confirmed by ultrasound evidence of dilated cardiomyopathy. The overall incidence of peripartum cardiomyopathy during the study period was 30 out of 1200 deliveries. The mean age of the women in the study was 34 years and mean parity was 5.2. In 13.3% of cases births involved twins. There were no predisposing socio-economic or climatic factors. The clinical picture was severe cardiac failure in 80.3% of cases and left ventricular insufficiency in 16.6%. In all cases ultrasound findings were typical of dilated cardiomyopathy. Serum selenium and vitamin B1 levels were normal. Measurements of T CD4 and CD8 in eight patients were normal. Conversion enzyme inhibitors were administered to twenty patients. Complete remission was achieved in 14 patients, three patients died, and thirteen patients presented ultrasonic evidence of persistent dilated cardiomyopathy. One patient relapsed after a subsequent delivery. These findings are in agreement with previous reports concerning the clinical and prognostic features of peripartum cardiomyopathy in Africa.
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PMID:[Etiopathogenic, ultrasonographic and prognostic features of postpartum cardiomyopathy]. 913 97

DiGeorge Syndrome is a congenital immunodeficiency characterized clinically by hypocalcemic tetany, congenital heart disease, unusual facies, and increased susceptibility to infection. Pathologically, the syndrome is marked by the abscence or hipoplasia of the thymus and parathyroid glands as well as cardiac or aortic arch abnormalities. Most patients show partial or complete T cell immunodeficiency and normal or near-normal B-cell immunity. A review is made on a clinical case of DiGeorge syndrome is presented. A 52 days old boy, was admitted through emergency. There was no familial evidence of alcoholism or immunodeficiency. He showed irritability due to hypocalcemia. The examination revealed facial and cardiovascular abnormalities and the immunological investigation revealed hypogammaglobulinemia, deficiency of the cell, CD4 and CD8 decreased and with inverted relation. Chest X ray showed cardiomegaly grade II, and no thymus was seen. The diagnosis of the complete DiGeorge syndrome was based on the abnormalities found.
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PMID:[Immunogenetic study in a case of DiGeorge syndrome]. 929 18

We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.
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PMID:Unusual traits associated with Robinow syndrome. 959 42

The immunologic profile of patients with congenital heart disease complicated by protein-losing enteropathy (PLE) is undefined. The aim of this study was to assess the lymphocyte subpopulation and immunglobulin (Ig) pattern in patients with PLE complicating congenital heart disease. The immunologic profile of six patients with congenital heart disease complicated by PLE was compared to that of controls without PLE matched for age and cardiac interventions. Enteric protein loss was documented by Tc99m-labeled albumin scintigraphy. The lymphocyte subpopulations were enumerated using flow cytometry, whereas serum IgG, IgA, and IgM concentrations were measured by the turbidimetric technique. The cardiac diagnoses included complex cyanotic heart disease post-Fontan procedure (n = 3), and one each of tetralogy of Fallot, restrictive cardiomyopathy, and valvar pulmonary stenosis. In patients with PLE, the T lymphocyte (CD3+) count was significantly lower (300 +/- 186 vs 2070 +/- 1171/microl, p = 0.017); both the helper/inducer lymphocytes (CD4+) (127 +/- 158 vs 927+/- 377/microl, p = 0.006) and suppressor/cytotoxic lymphocytes (CD8+) (129 +/- 49 vs 850 +/- 695/microl, p = 0.057) reduced with reversal of CD4(+)/CD8(+) ratio (0.81 +/- 0.68 1.64 +/- 0.89, p = 0.027). Furthermore, IgG level was significantly reduced (5.12 +/- 2.84 vs 12.5 +/- 1.58 g/L, p = 0.005) and IgA level tended to be lower (1.36 +/- 1.37 vs 2.50 +/- 0.80 g/L, p = 0.095). In contrast, the B lymphocyte (CD19+) count (340 +/- 151 vs 618 +/- 427/microl, p = 0.25), natural killer cell count (CD16(+) 56(+) CD3(-)) (252 +/- 212 vs 276 +/- 251/microl, p = 0.85), and IgM level (0.98 +/- 0.59 vs 1.12 +/- 0.25 g/L, p = 0.67) were similar for both groups. None of the patients developed opportunistic or severe viral infections. Abnormal immunologic profile of both the cellular and humoral arms of the immune system occurs in patients with congenital heart disease complicated by PLE. Nonetheless, these abnormalities perhaps appear quantitative rather than qualitative in nature, although further functional studies of antibody production and lymphocyte proliferation assays are required to support this proposition.
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PMID:Immunologic profile of patients with protein-losing enteropathy complicating congenital heart disease. 1253 Apr 89

Chromosome 22q11.2 deletion (del22q11.2) syndrome (DiGeorge syndrome/velocardiofacial syndrome) is a common syndrome typically consisting of congenital heart disease, hypoparathyroidism, developmental delay and immunodeficiency. Although a broad range of immunologic defects have been described in these patients, limited information is currently available on the diversity of the T-cell receptor (TCR) variable beta (BV) chain repertoire. The TCRBV repertoires of nine patients with del22q11.2 syndrome were determined by flow cytometry, fragment size analysis of the third complementarity determining region (CDR3 spectratyping) and sequencing of V(D)J regions. The rate of thymic output and the phenotype and function of peripheral T cells were also studied. Expanded TCRBV families were detected by flow cytometry in both CD4+ and CD8+ T cells. A decreased diversity of TCR repertoires was also demonstrated by CDR3 spectratyping, showing altered CDR3 profiles in the majority of TCRBV families investigated. The oligoclonal nature of abnormal peaks detected by CDR3 spectratyping was confirmed by the sequence analysis of the V(D)J regions. Thymic output, evaluated by measuring TCR rearrangement excision circles (TRECs), was significantly decreased in comparison with age-matched controls. Finally, a significant up-regulation in the percentage, but not in the absolute count, of activated CD4+ T cells (CD95+, CCR5+, HLA-DR+), IFN-gamma - and IL-2-expressing T cells was detected. These findings suggest that the diversity of CD4 and CD8 TCRBV repertoires is decreased in patients with del22q11.2 syndrome, possibly as a result of either impaired thymic function and/or increased T-cell activation.
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PMID:Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). 1269 24

This study explores the influence of innate immunity on CD8(+) T-cell responses against heart tissue. Adoptive transfer of ovalbumin-specific CD8(+) effector T cells into CMy-mOva mice, which express ovalbumin in cardiac myocytes, results in a lethal acute myocarditis. The inflammatory infiltrate in the heart includes neutrophils as well as T cells. We used anti-Ly6G antibody to transiently deplete neutrophils at the time of onset of disease. By day 7 after receiving 5 x 10(5) CD8(+) effector T cells, 100% of control Ig-treated CMy-mOva mice had died, while 85% of anti-Ly6G-treated mice survived indefinitely. CD8(+) T-cell infiltration and tissue damage were present in both groups, but the disease was limited in the anti-Ly6G-treated mice, with a rapid disappearance of the adoptively transferred CD8(+) T cells within 11 days. Recovery occurred even though blood neutrophil counts began to rise 48 hours after the last anti-Ly6G treatment. Recovery was associated with a chronic CD4(+) cell infiltrate, and a rapid decline in expression of IFN-gamma and IP-10 mRNA in the myocardium. Neutrophil depletion did not effect survival of CMy-mOva mice that received 3 x 10(6) CD8(+) T cells. These data show that granulocytic inflammation sustains CD8(+) T-cell-mediated heart disease, which has important implications for the pathogenesis and treatment of acute myocarditis and allograft rejection.
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PMID:Neutrophils sustain pathogenic CD8+ T cell responses in the heart. 1463 13

The thymus begins involution in childhood and historically it was thought to be nonfunctional by adulthood, thus presenting no contraindication to the routine practice of thymectomy during cardiothoracic surgery. More recent data suggest, however, that the thymus remains active into adulthood and is responsible for the low-level production of normal T cells. We hypothesize, therefore, that incidental thymectomy during cardiothoracic surgery in infancy causes long-term changes in the cellular immune system. To investigate this hypothesis, we quantified peripheral T-cell subsets and T-cell recombination excision circles in children with congenital heart disease to measure the impact of cardiothoracic surgical procedures and thymectomy performed during a period of immunologic development. We found that cardiothoracic surgical procedures, especially if they include thymectomy, impair T-cell production and produce long-term decreases in total lymphocyte count and CD4(+) and CD8(+) T-cell subsets, suggesting that long-term maintenance of lymphocyte populations is disturbed.
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PMID:Thymic function and impaired maintenance of peripheral T cell populations in children with congenital heart disease and surgical thymectomy. 1553 36


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