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)

Fifty-nine children with congenital asplenia were reviewed for episodes of severe infection. Seven children had isolated asplenia and 52 had asplenia associated with complex congenital heart disease (asplenia syndrome). A control group of eusplenic children with comparable cardiac lesions were assembled and used for comparative statistical analysis. There were 16 instances of documented sepsis among 59 children (27%). In those less than six months of age, the invading organism was usually gram-negative (Escherichia coli or Klebsiella). In children six months of age or older, the infecting organism was usually a pneumococcus or H. influenzae. When those with asplenia syndrome were compared to the control population, the former group had a significantly greater incidence of sepsis. Children with asplenia syndrome who survived the first month of life were at greater risk of dying from sepsis than from their heart disease. It is recommended that prophylactic antibiotics be administered to children with congenital absence of the spleen, commencing at three months of age, to be continued indefinitely.
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PMID:Sepsis and congenital asplenia. 32 Feb 99

A two and one-half year old boy with complex congenital heart disease had Howell-Jolly bodies in his blood raising the possibility of the asplenia syndrome. A 99mTc-sulfur colloid liver-spleen scan was reported normal, but the right lobe of the abnormally reversed liver was mistaken for the spleen. The diagnosis of visceral heterotaxy (Ivemark's syndrome) was established after scanning the patient with a new radiopharmaceutical, 99mTechnetium pyridoxylidene glutamate. The agent clearly demonstrated a left-sided gall bladder, and on comparison with the sulfur colloid scan it was established that asplenia was present. Radionuclide imaging with the new generation of hepatobiliary agents is a reliable method to document asplenia and is useful in studying patients with visceral heterotaxy.
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PMID:99mTechnetium pyridoxylidene glutamate imaging in visceral heterotaxy (Ivemark's syndrome). 48 37

Complete and unselected data concerning the postoperative pathology of congenital heart disease are presented for the first time. This study was based on 2,365 autopsies performed at the Children's Hospital Medical Center, Boston, in the 9 years from 1966 through 1974. Of these, 586 autopsies (25 percent) revealed congenital heart disease--238 performed in medically treated patients (41 percent) and 348 in surgically treated patients (59 percent). Tetralogy of Fallot, including cases with pulmonary outflow tract atresia and other associated malformations, was the congenital heart disease most often encountered in the postoperative autopsy series (88 cases, 25 percent of that series). D-transposition of the great arteries, including cases with other associated anomalies, was second (54 cases, 15.5 percent). Early death (hospital mortality) accounted for 320 (92 percent) of the 348 surgical cases; late death occurred in 28 patients (8 percent). Causes of late postoperative death included arrhythmias, excessively small ventricular septal defect with tricuspid atresia, massive hemoptysis, rupture of the pulmonary artery, cyanotic spell, congestive heart failure and infection. Prophylactic penicillin is recommended for patients with the asplenia syndrome because of their probably enhanced vulnerability to fulmfulminating septicemia by encapsulated bacteria such as the pneumococcus. Completeness and lack of selection in reporting data are essential in the interests of perspective and comparability of findings.
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PMID:Postoperative pathology of congenital heart disease. 95 66

Ketamine and fentanyl were used for surgery of esophageal hiatus hernia in a 9 month old boy with single ventricle (asplenia syndrome). The patient was orally premedicated with diazepam 2.5 mg, and intravenously with atropine 0.04 mg. General anesthesia was induced with ketamine-fentanyl-pancuronium-100% oxygen, and maintained with fentanyl-pancuronium-100% oxygen. The total dose of ketamine or fentanyl was 0.8 mg.kg-1 or 15 micrograms.kg-1, respectively. Systolic blood pressure and heart rate of the patient were stable during ketamine-fentanyl anesthesia. Arterial oxygen saturation measured by pulse oximetry was over 90% and arterial oxygen tension was above 60 mmHg during the operation. Ketamine-fentanyl anesthesia might be useful for non-cardiac surgery of a child with cyanotic congenital heart disease.
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PMID:[Anesthetic management of an infant with a single ventricle (asplenia syndrome) for non-cardiac surgery]. 146 Jul 57

The patterns of pulmonary circulation were assessed by angiography in a series of 24 patients with right atrial isomerism (asplenia syndrome) and pulmonary atresia. Mean age at catheterization was 21.5 days (range 1 day-11 months). The pulmonary arteries were confluent in 22 cases (91.7%). Eighteen patients (75%) had ductus-dependent pulmonary circulation in presence of confluent pulmonary arteries, similar to cases of pulmonary atresia combined with complex congenital heart disease. The ductus appeared in continuity with the aortic arch, shaping an acute angle with the descending aorta, as in cases of pulmonary atresia with ventricular septal defect. A bilateral ductus was present in 5 cases (20.8%), 3 with confluent and 2 with nonconfluent pulmonary arteries. One patient presented multiple systemic collaterals to the lungs. All the other patients had normal arborization of the pulmonary arteries. Seven patients presented an obstructed total anomalous pulmonary venous connection: 4 in inferior vena cava and 3 in superior vena cava. These anatomical observations provide useful information for the surgical palliation of these anomalies and, probably, warrant pre-operative angiographic evaluation in all the patients with right atrial isomerism.
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PMID:[Right atrial isomerism with pulmonary atresia: the angiocardiographic characteristics and pulmonary circulatory patterns]. 174 48

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

Reverse Genetics consists in identifying the gene responsible for a hereditary condition, the biochemical mechanism of which is unknown. We have applied this approach to families recruited according to the following criteria: 1) at least two members of the family must be affected; 2) one of the two subjects must have an abnormality of thoracic and/or abdominal lateralization. This abnormality of situs can form part of a syndrome: asplesia, polysplenia, heterotaxia, dextrocardia, situs inversus, Kartagener' or Ivemark's syndrome; 3) the other affected subject(s) must have some form of congenital heart disease and/or one of the phenotypes above described in 2); 4) in consanguinous marriages, only one child fulfilling the criteria in 2) above described is required. Eight families conforming to the above criteria are presented; lymphocytic transformation was successful in 90% of cases when the blood sample was received within 48 hours. The segregation of the alleles is in favour of a linkage between the tested probe and the syndrome(s) studied. In order to identify the gene responsible, we will have to increase the number of families studied and extend our research to sporadic cases.
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PMID:[Research of gene(s) involved in situs inversus. Initial results]. 189 97

The morphological characters of 21 cases of single ventricle which constituted 1.63% of cases of congenital heart disease were studied. The single ventricular chamber with left ventricular characters was seen in 11 cases. In 8 of these, the great vessels were transposed with aorta arising from outlet chamber (SLL-7:SDD-1). Except in one case where there was common A-V valve, two A-V valve, two A-V valves entered the main chamber with some abnormality of A-V valves in all the cases. Bulbo-ventricular foramen was obstructive in 6 cases with resultant hypoplasia of aorta. Aortic arch anomalies were present in 5 of these. Valvular pulmonary stenosis was present in two. In 3 cases with normally related great vessels (SDS), bulbo-ventricular foramen was obstructive in two with hypoplastic pulmonary artery. Abnormalities of A-V valves were similar to the previous group. The incidence of single right ventricle was high in this series (47%). In half the cases, there was associated asplenia syndrome. This group in general showed common atrium with exception of one case, common A-V canal, both great vessels arising from same outflow with atrophic conal septum. Anomalies of pulmonary veins were common. The subsets observed were ADD-3, ADL-1, AL single trunk-1. In the remaining cases without asplenia, both A-V valves were present though some abnormalities were present in all. Systemic and pulmonary venous anomalies were rare. The subsets observed were SLL-3, SDL-1, SDD-1.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Single ventricle (morphologic study of 21 cases). 259 39

The incidence of radiographic visibility of the ossification centres of the body of the hyoid bone and of the humeral capital epiphysis in antero-posterior or lateral chest radiographs taken during the first month of life of 63 autopsied infants were analysed. The group comprised patients with Down's syndrome (DS) with congenital heart disease, 15; complete transposition of the great vessels (TGV), 10; Ivemark asplenia syndrome (IS), 17; and a control group of infants with congenital heart disease (CHD) who had none of the above conditions, nor tetralogy of Fallot, interrupted aortic arch, DiGeorge syndrome or hypoplastic left-heart complex, 31. The incidence of radiographically visible hyoid ossification centre (HOC) in the control group was 71% and of humeral capital epiphysis (HE), 16.1%. Autopsied infants with TGV, IS or DS with CHD showed increased visibility of HOC (100%); the incidence of visible HE was increased in neonates with IS (71.4%) and with TGV (50%). The differences in the incidence of radiographic visibility of HOC and HE in neonates with CHD, in this study and in others in the literature, appear to have diagnostic value.
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PMID:Ossification centre of the hyoid bone in complete transposition of great vessels, Ivemark asplenia syndrome, and Down's syndrome with congenital heart disease: correlation with the humeral capital epiphysis. 294 57

Complex congenital heart disease with atrioventricular block was detected prenatally in two fetuses at 34 and 28 weeks' gestation. The spleen was not seen on ultrasonographic examination in either fetus, suggesting polysplenia/asplenia syndrome. Both infants died shortly after delivery and the autopsies confirmed this diagnosis. Recommendations for sonographic screening of the fetal spleen in cases of prenatal detection of complex heart disease or cardiac dysrhythmia are discussed.
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PMID:Prenatal diagnosis of asplenia/polysplenia syndrome. 336 89


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