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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Simpson and Zellweger summarized various features of Ivemark syndrome. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.

On the basis of analysis in the 3 previous reports and in 11 patients atria their own, Toth et al. The designation polysplenia syndrome is used for a complex association of abnormalities of the spleen and of visceral lateralization with congenital heart malformations Moller et al.

Clinical implications of atrial isomerism.

A patient with the typical asplenia syndrome had a sib who at autopsy showed multiple accessory spleens, persistent atrioventricularis communis and partial transposition of the abdominal viscera Polhemus and Schafer, Anomalous pulmonary venous return is frequent.

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. Please consider making a donation now and again in the future. A developmental complex of bilateral “left-sidedness”. Chen and Monteleone reported 2 affected boys in one family and 2 first cousins in another.


Heinz and Howell-Jolly bodies in the peripheral blood are hematologic signs of absent spleen. A second had a ventricular septal defect and an atrial septal isomerisn, and a third had truncus communis and atrial septal defect ASD.

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Clinical implications of atrial isomerism.

Consanguinity and complex cardiac anomalies with situs ambiguus. Double outlet right ventricle was the most common type of ventriculoarterial connection.

Return of blood from the lower part of the body is by the azygous or hemiazygous system, a venous defect that occurs almost only in this syndrome. Journal List Br Heart J v. CC HPO: Ivemark syndrome in siblings. Support Center Support Center. In both cases, absent spleen, symmetric liver, and trilobed lungs were associated with complex cardiac malformations. Use of high kilovoltage filtered beam radiographs for detection of bronchial situs in infants and young children.

Asplenia and polysplenia syndromes with abnormalities of lateralization in a sibship. The patient exhibited abdominal heterotaxy iso,erism 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.

Connexin43 gene mutations and heterotaxy. Absence of mutations in the regulatory domain of the gap isojerism protein connexin 43 in patients with visceroatrial heterotaxy. Polyasplenia, caudal deficiency, and agenesis of the corpus callosum. Hypoplasia of the spleen is sometimes the finding rather than aplasia. Forty per cent of cases of anomalous pulmonary venous connection with right atrial isomerism had obstruction.



Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Images in this article Fig 1 on p. Affected individuals present at birth with severe cardiac failure. The authors favored autosomal recessive inheritance with male preponderance.

Familial polysplenia and cardiovascular defects. Diagnosis and significance of atrial isomerism. Congenital absence of the spleen is usually accompanied by complex isomeridm malformations, malposition and maldevelopment of the abdominal organs, and abnormal lobation of the lungs.

Although this patient apparently represents the first recognized case of agenesis of the corpus callosum in association with polyasplenia and caudal deficiency, the literature on 7 additional patients with polyasplenia and caudal deficiency was reviewed.

Atrioventricular valve regurgitation was detected in 14 cases. Polysplenia syndrome and paracentric inversion of chromosome 11 46,XX,inv 11 q13q Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs.