Right atrial isomerism or left atrial isomerism is frequently diagnosed as situs ambiguous without further discrimination of the specific morbid anatomy. Thirty six. OMIM: Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. Abstract. Objectives. We sought to determine, in a large series of patients with right atrial isomerism, factors associated with mortality. Background. Right atrial.

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A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis.

Open in a separate window. Associated Data Supplementary Materials. They detected only a single-bp insertion in the 3-prime untranslated region of 1 patient.

Heart defects included single ventricle with dysplastic atrioventricular valve, total anomalous pulmonary venous drainage, and malposition of the great arteries with pulmonary stenosis. Anomalous pulmonary venous return is frequent. Polysplenia suggests bilateral ‘left-sidedness’ Moller et al. Clinical Synopsis Toggle Dropdown.

Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects. Familial situs inversus and congenital heart defects. In all patients one or more of the following conditions was met: Four of 6 patients were compound heterozygotes for CX43 mutations, indicating autosomal recessive inheritance. Two dimensional echocardiographic diagnosis of situs.

On the basis of analysis in the 3 previous reports and in 11 patients of their own, Toth et al. No signs of cardiac or abdominal laterality defects were found in either isomwrism.

Thus, isolated dextrocardia, situs viscerum inversus, and the asplenia-polysplenia complex may be part of a single dysmorphogenetic process.

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Affected sibs were also reported by Arnold et al. Dextrocardia with and without situs viscerum inversus in two sibs. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Congenital cardiac disease associated with polysplenia.


CAtrixl HPO: Ivemark described the pathology of the splenic agenesis syndrome and reported 14 new cases with autopsy, as well as 55 cases collected from the literature.

Clinical implications of atrial isomerism.

At necropsy she had a right spleen and right pulmonary isomerism 3 lobes in each lung, as commonly found in the asplenia syndrome. To test the possibility of mutations in other parts of the CX43 gene, the gene was located on the physical map of chromosome 6, and flanking polymorphic markers were genotyped. CC ]. Polyasplenia, caudal deficiency, and agenesis of the corpus callosum. Ivemark published a 4-part report of his investigation of the relationship between anomalies of the atrioventricular region and of the conotruncus.

RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Occurrence of Ivemark syndrome with polysplenia in sibs of a family. Regional Paediatric Cardiology Centres. The patient exhibited abdominal heterotaxy and asplenia as well as multiple cardiac anomalies, including dextrocardia, double-outlet right ventricle, obstructed total anomalous pulmonary venous return, valvular and subvalvular pulmonary stenosis, persistent left superior vena cava, right-dominant atrioventricular canal, common atrium, and single ventricle.

Hurwitz and Caskey reported affected brothers, bringing to 8 the number of families with multiple affected sibs. Atriao of the 4 had transposition of the great vessels.


By selecting cases of cardiac malformation associated with absence of a spleen, Ivemark postulated that the uniformity of the material is based upon selecting the period when organogenesis of the heart went astray, rather than on similarities in morphology of the malformed hearts.

Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 46,XX,t 11;20 q Asplenia and polysplenia malformation complexes explained by abnormal embryonic body curvature. In another family, 3 sibs had asplenia with cyanotic heart disease Ruttenberg et al. Right atrial isomerism in four siblings. Familial polysplenia and cardiovascular defects. Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes.

We are determined to keep this website freely accessible. This article has been cited by other articles in PMC. Morphological considerations pertaining to recognition of atrial strial. Syndromes of asplenia and polysplenia: Congenital heart malformation and septicemia were features.

Left atrial isomerism LAI is a related disorder with a somewhat better prognosis. The authors noted that most cases isomerrism sporadic.

Clinical implications of atrial isomerism.

Consanguinity and complex cardiac anomalies with situs ambiguus. There was a necropsy report for 18 cases. Jsomerism most commonly cited causes of death atiral either palliative or definitive operation were undetected anomalous pulmonary venous connection, pulmonary venous stricture, and uncorrected atrioventricular valve or aortic regurgitation complicated by abnormal coagulation. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect.

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