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 syndromes with abnormalities of lateralization in a sibship. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Simpson and Zellweger summarized various features of Ivemark syndrome. Polyasplenia, caudal deficiency, and agenesis of the corpus callosum. This article has been cited by other articles in PMC.

A number sign is used with this entry because of evidence that right atrial isomerism RAI is caused by homozygous mutation in the GDF1 gene on chromosome 19p 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.

Thus, the results of did not support the suggestion that this gene is implicated in human autosomal recessive lateralization defects.

Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. In 6 children in whom orthotopic cardiac transplantation had been performed for severe visceroatrial heterotaxia, Britz-Cunningham et al. All 4 succumbed and underwent autopsy. 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.


Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. Two discrete atrioventricular valves were significantly more common in left atrial isomerism. Familial situs inversus and congenital heart defects.

The sibs’ unaffected parents and 3 unaffected maternal aunts were each heterozygous for 1 of the mutations. Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy.

Contribution of rare inherited siomerism de novo variants in 2, congenital heart disease probands.

Two dimensional echocardiographic diagnosis of situs. Fig 3 on p.

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.

Support Center Support Center. Open in a separate window. Asplenia and polysplenia have similar cardiac anomalies, isomreism asplenia tends to be associated with severe atrioventricular canal malformations and marked deficiency of the interventricular septum whereas with polysplenia the AV canal ahrial are usually less severe and there are greater abnormalities of the interatrial septum Hutchins et al.

All had asplenia, large transverse liver located in the midline, and bilaterally trilobed lungs; 2 also had dextrocardia and abdominal situs inversus. The radiographic appearance of the tracheobronchial tree as an indicator of visceral situs.


Clinical implications of atrial isomerism.

The parents of 4 affected sibs were fourth cousins; a deceased sister of the father was affected. Consanguinity and complex cardiac isomeriam with situs ambiguus. 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. Ivemark syndrome in siblings. 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 xtrial. Polysplenia syndrome and paracentric inversion of chromosome 11 46,XX,inv 11 q13q Assessment of total anomalous pulmonary venous connection by two-dimensional echocardiography.

Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes.

On the basis of analysis in the 3 previous reports and in 11 patients of their own, Toth et al. Familial splenic anomaly syndrome. 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.

National Center for Biotechnology InformationU. Ksomerism nonsense and frameshift mutations were found in heterozygosity in Finnish blood donors at a frequency of 1 and 2 inrespectively, and the nonsense mutation was also present in 1 of UK Caucasian blood donors. Thus, isolated dextrocardia, situs viscerum inversus, and the asplenia-polysplenia complex may be part of a single dysmorphogenetic process. Fig 2 on p.