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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The association of complex congenital heart disease with asplenia syndrome and congenital AV block is described in a newborn. Cardiovascular lesions were right atrial isomerism, d-loop, discordant ventriculoarterial connection, pulmonary stenosis, total anomalous pulmonary venous drainage, absent right pulmonary artery, and bilateral superior vena cava. The ECG recording disclosed complete AV block with narrow QRS (suprahisian block). The histology of the conduction system revealed two AV nodes, one anterior and one posterior, none of which connected with the atrial myocardium; only the posterior node was continuous with a penetrating and bifurcating bundle. The histologic findings were consistent with the suprahisian AV block due to lack of connection between the atria and the regular posterior AV specialized junction.
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PMID:Congenital atrioventricular block in right atrial isomerism (asplenia). A case due to atrionodal discontinuity. 670 90

Two infants with asplenia and complex cyanotic congenital heart disease showed unusual findings at cardiac catheterization. Each had a patent pulmonary outflow tract and a severe obstructive lesion of the aortic arch. These cases emphasize the heterogeneity of the asplenia-polysplenia syndromes. Pulmonary atresia or critical pulmonic stenosis is not an invariable accompaniment of the asplenia syndrome. Obstructive lesions of the aortic outflow tract, which occur in about 1/3 of patients with the polysplenia syndrome, also can occur with asplenia.
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PMID:Asplenia syndrome with atypical cardiac anomalies. 715 37

Eight children with congenital asplenia syndrome have been studied for their cardiac and immunologic status. All patients were greater than 2 years of age and had severe complex cyanotic heart disease. All eight patients had abnormalities of cardiac and/or visceral situs. All patients had evidence of pulmonary stenosis or atresia and a common atrium or large atrial septal defect. Five patients required palliative cardiac surgery. All patients were given prophylactic antibiotics; there were no documented episodes of sepsis. One patient had an isolated deficiency of IgM; two patients had an isolated deficiency of IgE. Seven of eight patients were immunized with a dodecavalent pneumococcal vaccine. Four of the seven patients failed to have a twofold or greater antibody response. Our findings suggest that prophylactic antibiotics may reduce the incidence of sepsis in the asplenia syndrome. Because the prognosis for these patients must be optimistic, we recommend early documentation of splenic function in children suspected of having the asplenia syndrome, prophylactic antibiotics, and parent education. Children immunized with bacterial vaccines should have their antibody responses monitored.
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PMID:Congenital asplenia: immunologic assessment and a clinical review of eight surviving patients. 725 76

Two families have been presented. In one, asplenia occurred with and without gastrointestinal malformations. In the other, cardiovascular malformations occurred in one member and Ivemark syndrome in the other. All three children with asplenia died in infancy, two with evidence of sepsis. Sudden death in infancy may be due to sepsis in a child with isolated asplenia syndrome and impaired resistance to infection. Both isolated asplenia and some cases of congenital heart disease without asplenia may be related to Ivemark syndrome. New infants born in families with a history of congenital cardiovascular malformations, visceral heterotaxy, or other malformations associated with Ivemark syndrome should be tested for asplenia, primarily by searching for Howell-Jolly bodies. Infans with asplenia should be protected with prophylactic antibiotics. Pneumococcal polysaccharide vaccine is indicated at the age of 2 years. It would appear worthwhile for pediatric surgical or pediatric cardiologic services to perform a screening program for Howell-Jolly bodies.
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PMID:Familial asplenia, other malformations, and sudden death. 736 May 56

(Definitions) Situs solitus indicates the normal position of the cardiac atria and viscera. Situs solitus with levocardia is the normal situation, with < 1% incidence of congenital heart disease (Table 1). Levocardia denotes a left-sided heart and a left cardiac apex; it does not give any indication of cardiac structure or body situs (Fig. 1A). Situs inversus is the mirror-image location of the atria and abdominal viscera (Fig. 1B). Heterotaxia is the abnormal arrangement of organs and major blood vessels different from the orderly arrangement of either situs solitus or situs inversus. In situs ambiguus or heterotaxia, the relationship of the atria and viscera is inconsistent. Isomerism, a form of heterotaxia, is a term used to describe symmetric morphology, i.e., both sides of the viscera, and both lungs are nearly identical to one another (Fig. 2). Right isomerism or asplenia syndrome is characterized by situs ambiguus with bilateral right-sidedness (Fig. 2A). Left isomerism or polysplenia syndrome is a second type of situs ambiguus characterized by bilateral left-sidedness (Fig. 2B). In this review, all patients having situs ambiguus with either right isomerism (asplenia syndrome) or left isomerism (polysplenia syndrome) are regarded as having cardiac malposition, an inappropriate cardiac position.
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PMID:Adult presentation of heterotaxic syndromes and related complexes. 789 96

Atrioventricular septal defect also known as endocardial cushion defect is severe congenital heart disease which is often associated with chromosomal abnormalities (30-50%) or is a part of a malformation syndrome (30%). Between 1, october 1992, and 30, september 1996. 21 cases were diagnosed prenatally. The chromosomal analysis found in 1 case trisomy 18, in 1 case trisomy 22 and in 7 cases trisomy 21. In 7 cases atrioventricular septal defect was part of Ivemark syndrome, none of them had chromosomal abnormality, except 1, who had trisomy 18. Out of 21 cases there was only one survivor. None of cases associated with Ivemark syndrome survived. In 4 cases sibs or parents had congenital heart disease. Four mother were above 40 years. The report summarises the most important abnormalities in the prenatal diagnosis of endocardial cushion defect and echocardiographic and embryopathologic foundings.
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PMID:[Prenatal diagnosis of atrioventricular septal defect and its prognostic significance]. 945 7

In 2000, The International Nomenclature Committee for Pediatric and Congenital Heart Disease was established. This committee eventually evolved into the International Society for Nomenclature of Paediatric and Congenital Heart Disease. The working component of this international nomenclature society has been The International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease, also known as the Nomenclature Working Group. The Nomenclature Working Group created the International Paediatric and Congenital Cardiac Code, which is available for free download from the internet at [http://www.IPCCC.NET]. In previous publications from the Nomenclature Working Group, unity has been produced by cross-mapping separate systems for coding, as for example in the treatment of the functionally univentricular heart, hypoplastic left heart syndrome, or congenitally corrected transposition. In this manuscript, we review the nomenclature, definition, and classification of heterotaxy, also known as the heterotaxy syndrome, placing special emphasis on the philosophical approach taken by both the Bostonian school of segmental notation developed from the teachings of Van Praagh, and the European school of sequential segmental analysis. The Nomenclature Working Group offers the following definition for the term "heterotaxy": "Heterotaxy is synonymous with 'visceral heterotaxy' and 'heterotaxy syndrome'. Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. By convention, heterotaxy does not include patients with either the expected usual or normal arrangement of the internal organs along the left-right axis, also known as 'situs solitus', nor patients with complete mirror-imaged arrangement of the internal organs along the left-right axis also known as 'situs inversus'." "Situs ambiguus is defined as an abnormality in which there are components of situs solitus and situs inversus in the same person. Situs ambiguus, therefore, can be considered to be present when the thoracic and abdominal organs are positioned in such a way with respect to each other as to be not clearly lateralised and thus have neither the usual, or normal, nor the mirror-imaged arrangements."The heterotaxy syndrome as thus defined is typically associated with complex cardiovascular malformations. Proper description of the heart in patients with this syndrome requires complete description of both the cardiac relations and the junctional connections of the cardiac segments, with documentation of the arrangement of the atrial appendages, the ventricular topology, the nature of the unions of the segments across the atrioventricular and the ventriculoarterial junctions, the infundibular morphologies, and the relationships of the arterial trunks in space. The position of the heart in the chest, and the orientation of the cardiac apex, must also be described separately. Particular attention is required for the venoatrial connections, since these are so often abnormal. The malformations within the heart are then analysed and described separately as for any patient with suspected congenital cardiac disease. The relationship and arrangement of the remaining thoraco-abdominal organs, including the spleen, the lungs, and the intestines, also must be described separately, because, although common patterns of association have been identified, there are frequent exceptions to these common patterns. One of the clinically important implications of heterotaxy syndrome is that splenic abnormalities are common. Investigation of any patient with the cardiac findings associated with heterotaxy, therefore, should include analysis of splenic morphology. The less than perfect association between the state of the spleen and the form of heart disease implies that splenic morphology should be investigated in all forms of heterotaxy, regardless of the type of cardiac disease. The splenic morphology should not be used to stratify the form of disease within the heart, and the form of cardiac disease should not be used to stratify the state of the spleen. Intestinal malrotation is another frequently associated lesion that must be considered. Some advocate that all patients with heterotaxy, especially those with isomerism of the right atrial appendages or asplenia syndrome, should have a barium study to evaluate for intestinal malrotation, given the associated potential morbidity. The cardiac anatomy and associated cardiac malformations, as well as the relationship and arrangement of the remaining thoraco-abdominal organs, must be described separately. It is only by utilizing this stepwise and logical progression of analysis that it becomes possible to describe correctly, and to classify properly, patients with heterotaxy.
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PMID:The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. 1803 96

We report successful selective local intra-arterial thrombolytic therapy for thromboembolic occlusion of right middle cerebral artery in a patient with asplenia syndrome and unrepaired cyanotic congenital heart disease.
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PMID:Successful selective intra-arterial thrombolytic therapy for embolic stroke in a patient with asplenia syndrome and unrepaired cyanotic congenital heart disease. 1837 7

Asplenia syndrome is a syndrome of right isomerism or attempted bilateral right sidedness. It includes congenital asplenia in association with complex congenital cyanotic heart disease and situs anomalies of the other thoracoabdominal organs. Herein we report a case of asplenia syndrome so as to highlight and refocus attention on the possibility of this rare syndrome that must be considered in a neonate presenting with congenital cyanotic heart disease.
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PMID:Asplenia Syndrome in a Neonate: A Case Report. 2750 71

Pulmonary venous (PV) obstruction is associated with a poor prognosis, as well as a high risk of recurrence, following surgical treatment. It can also interfere with the successful completion of Fontan circulation in patients with complex congenital heart disease. A case of a patient who had right isomerism (also known as asplenia syndrome), total anomalous pulmonary venous connection (TAPVC), and a single right ventricle is presented. Although bilateral total occlusion of the inferior PVs was identified postoperatively, the formation of the anastomosis and collateral vessels into the superior and middle PVs enabled successful completion of Fontan circulation. Anastomoses and collateral flow of the PVs were found largely in the interlobar pleura and not in the lung parenchyma.
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PMID:Development of acquired intrapulmonary venous anastomosis contributing to establishment of Fontan circulation. 3041 93


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