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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We need long-term secure funding to provide you the information that you need at your fingertips. 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.

Clinical implications of atrial isomerism.

In all patients one or more of the following conditions was met: Unfortunately, it is not free to produce. He also reported 4 new cases of multiple or rudimentary spleens occurring with cardiovascular anomalies, and 6 examples from the literature.

The association of a laterality sequence with caudal deficiency may represent a distinct autosomal recessive entity. Assessment of total anomalous pulmonary venous connection by two-dimensional echocardiography. Contribution of rare inherited and atriql novo variants in 2, congenital heart disease probands.

They also reported an instance of parental consanguinity, bringing to 4 the number of such instances. The radiographic appearance of the tracheobronchial tree as an indicator of visceral situs. Fig 3 on p. Heinz and Howell-Jolly bodies in the peripheral blood are hematologic signs of absent spleen. We are determined to keep this website freely accessible. CC HPO: Cardiac defects include atrial and ventricular septal defects, pulmonic stenosis, endocardial cushion defects, and others.


A common atrioventricular valve was the most frequent mode of connection in both forms. Open in a separate window.

Distinction from other forms of congenital cyanotic cardiac disease. Dextrocardia with and without situs viscerum inversus in two sibs. In a cohort of 2, probands with congenital heart disease, comprising 2, parent-offspring trios and singletons, Jin et al.

They detected only a single-bp insertion in the 3-prime untranslated region of 1 patient. 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. 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 atriwl stenosis, persistent left superior vena cava, right-dominant atrioventricular canal, common atrium, and single ventricle.

Familial polysplenia and cardiovascular defects. Congenital absence of spleen; syndrome with atrioventricularis and situs inversus: In the first infant, minor facial abnormalities were noted, including hypertelorism, low-set ears, and choanal stenosis. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs.


While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. All 4 succumbed and underwent autopsy. Ivemark published a 4-part report of his investigation of the relationship between anomalies of the atrioventricular region and of the conotruncus.


Simpson and Zellweger summarized various features of Ivemark syndrome.

Clinical implications of atrial isomerism.

Four of 6 patients were compound heterozygotes for CX43 mutations, indicating autosomal recessive inheritance. Isomerim individuals present at birth with severe cardiac failure. The sibs’ unaffected parents and 3 unaffected maternal aunts were each heterozygous for 1 of the mutations. Congenital cardiac disease associated with polysplenia, a developmental complex of bilateral ‘left-sidedness.

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Right atrial isomerism in four siblings. Affected sibs were also reported by Arnold et al. The nonsense and frameshift mutations were found in heterozygosity in Finnish blood donors at a frequency of 1 and 2 inrespectively, and the isomfrism mutation was also present in 1 of UK Caucasian blood donors.

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. Support Center Support Center. 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.