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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Asplenia and polysplenia have similar cardiac anomalies, although asplenia tends to be associated with severe atrioventricular canal malformations and marked deficiency of the interventricular septum whereas with polysplenia the AV canal defects are usually less severe and there are greater abnormalities of the interatrial septum Hutchins et al.

Polyasplenia, caudal deficiency, and agenesis of the corpus callosum. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. The designation polysplenia syndrome is used for a complex association of abnormalities of the spleen ixomerism of visceral lateralization with congenital heart malformations Moller et al. Syndromes of asplenia and polysplenia: Familial situs inversus and congenital heart defects.

Congenital cardiac disease associated with polysplenia.

He also reported 4 new cases of multiple or rudimentary spleens occurring with cardiovascular anomalies, and 6 examples from the literature. Diagnosis and significance of atrial isomerism.

Haplotype analysis excluded the CX43 gene locus in nearly all of the familial cases of lateralization defects. Please consider making a donation now and again in the future.


Although the prognosis is poor, successful operation depends on knowledge of the precise anatomical arrangement associated with atrial isometism. The most commonly cited causes of death after 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.

Congenital absence of the spleen is usually accompanied by complex cardiac malformations, malposition and maldevelopment of the abdominal organs, and abnormal lobation of the lungs.

He noted that during embryogenesis the spleen is being formed while the heart is still in a stage of critical modeling. 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. At necropsy she had a right spleen and right pulmonary isomerism 3 lobes in each lung, as commonly found in the asplenia syndrome.

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. Other entities represented in this entry: Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.

Clinical implications of atrial isomerism.

Open in a separate window. Segregation analysis of markers in the 11q13 region in the proposita and her phenotypically normal carrier sibs did not show a unique combination of maternal and paternal alleles in the patient.

CC HPO: 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. In 6 children in whom orthotopic cardiac transplantation had been performed for severe visceroatrial heterotaxia, Britz-Cunningham et al.


Hurwitz and Caskey reported affected brothers, bringing to 8 the number of families with multiple affected sibs. Images in this article Fig 1 on p. Expert curators review the literature and organize it to facilitate your work.

Clinical implications of atrial isomerism.

In a cohort of 2, probands with congenital heart disease, comprising 2, parent-offspring trios and singletons, Jin et al. Forty per cent of cases of anomalous pulmonary venous connection with right atrial isomerism had obstruction. Thus, the results of did not support the suggestion that this gene is implicated in human autosomal recessive lateralization defects.

Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects. Czeizel described 4 affected sibs among the offspring of a gypsy couple who were first cousins.

Syndrome of congenital cardiac disease with asplenia. National Center for Biotechnology InformationU. Families in which 1 person had the developmental complex with polysplenia and another person had it with asplenia Polhemus and Iskmerism, ; Zlotogora and Elian, ; Niikawa et al. They identified 32 cases among 4, autopsies done in a period of 21 years in the Texas Children’s Hospital.