Alternative titles; symbols. Other entities represented in this entry:. Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. 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.
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There is a high mortality in infants with right atrial isomerism RAI. However, less is known about outcome in older children with RAI. None of the patients had surgical intervention for the RAI before age 3. None of them planned or had biventricular repair performed. One patient died the day after the operation. Patients with RAI who have survived to early childhood without surgical intervention have complex cardiac abnormalities.
Survival after single stage total cavopulmonary connection is good but AVV repair is common. Congenital heart disease CHD affects 0. However, heterotaxy syndrome is one of the most serious forms of CHD, occurring in approximately 1 in — live births with CHD Reller et al.
The International Nomenclature Committee for Pediatric and Congenital Heart Disease defines heterotaxy syndrome as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left—right axis of the body Jacobs et al.
RAI is typically associated with complex cardiovascular malformations Freedom et al. RAI has a particularly high mortality rate in infants. To our knowledge, there are no previous reports on older RAI patients who have not had surgery with regard to survival and how their cardiac condition differs from infants with RAI. Diagnosis of RAI remains a challenge.
Patients with RAI have abnormalities in the lungs and various intra-abdominal organs, and each side of the heart morphologically resembles the right atrium and right atrial appendages. Most affected patients also have juxtaposition of the abdominal aorta and asplenia. Radiological diagnosis of RAI may be suspected on plain radiographic films of the chest and abdomen, by identifying the position of the liver and stomach, and bronchial pattern Freedom and Fellow Echocardiographic or angiographic demonstration of a juxtaposition of the aorta and inferior vena cava, and morphology of the atrial appendages are used to support the diagnosis Huhta et al.
We also sought to assess their surgical outcomes when late palliation was performed. Diagnosis of RAI was confirmed at surgery, when bilateral right atrial morphology was found. All patients were Asian. The study protocol was approved by local research and ethical review boards.
Data on age at the first surgical intervention and types of interventions were also collected. The day of operation was considered as day 1 for calculating the length of hospital stay. Univariate analysis of the association of variables with mortality was performed using the Chi square test. All of the patients in this study had ventricular septal defects.
Pulmonary veins were observed in a variety of abnormal configurations, including connection to the right side of the atrium, to both sides of the atrium separately, to the right superior vena cava, to the left superior vena cava, to the right atrium and left superior vena cava combined, and to the left atrium and left superior vena cava combined.
No patients had biventricular repair or were prepared to have biventricular repair. Only one patient died the day after operation; this patient also had a reoperation. Atrioventricular valve structure and function in TCPC patients with or without valve repair. Therefore, this report described the initial abnormalities of patients with RAI. We found that the percentages of patients with CAVV, pulmonary vein obstruction, single or functional single ventricle, and pulmonary atresia were significantly different between the previous study and our study.
Despite late diagnosis, many of these patients survive surgical palliation. These results are consistent with previous studies Eronen et al. Sadiq et al. Therefore, patients with RAI with APVC do not need an emergent operation unless they have an obstructed anomalous pulmonary venous connection or other factors. This explains why there was no significant difference in the rate of anomalous pulmonary venous drainage between our study and the previous study. One patient with a normal pulmonary artery and pulmonary valve had right ventricular outflow stenosis.
Hashmi et al. This could explain why few patients with pulmonary atresia were observed in our study. In our study, there was one patient without pulmonary and subpulmonary obstruction.
This patient and three other patients with mild pulmonary stenosis lost the opportunity for surgical interventions. In our study, however, no patients had an obstructed anomalous pulmonary venous connection.
An obstructed anomalous pulmonary venous connections is a poor prognostic indicator in RAI Sadiq et al. Therefore, this could explain the significant difference in the number of patients with an obstructed anomalous pulmonary venous connection in our study compared with previous studies. Our study further confirms the risk of RAI with obstructed anomalous pulmonary venous connection.
AVV morphology and function are important factors when considering surgery. In our study, although the total proportion of patients with an abnormal AVV was similar to that in previous studies Cheung et al.
Previous studies Cheung et al. AVV regurgitation in RAI is primarily caused by structural abnormalities, including abnormal clefts and commissures, dysplastic leaflets, and elongated or shortened chordae Uemura et al.
Ota et al. Persistent AVV regurgitation, which is regurgitation that persists or recurs after attempted valve repair, is a potential risk factor for mortality Hashmi et al. The peculiar morphological characteristics of the AVV may be the cause of frequent valvar regurgitation in patients with RAI Francalanci et al. AVV regurgitation leads to an enlarged ventricle and atrioventricular annulus, further increasing atrioventricular regurgitation with age.
This could explain why a high number of patients required AVV repair in our study. The reason for this difference in findings is unclear. No previous studies have demonstrated that a single superior vena cava is a risk factor for early death. We suspect that pulmonary venous drainage obstruction is more likely in patients with only one superior vena cava than in patients with bilateral superior vena cavas.
Therefore, the presence of bilateral superior vena cava may reduce obstruction of pulmonary venous drainage. Systemic outflow stenosis may increases the difficulty of the operation.
This could explain why patients with systemic outflow obstruction were not found in our study. Our institution, Fuwai Hospital,is a specialty institution with Pediatric Cardiac Surgical Center for congenital cardiac patients.
However, we do not have newborn service in this hospital. Therefore, no prenatal or neonatal patients were enrolled into this study. This made it difficult to determine some risk factors for a poor outcome in patients with RAI. We suspect that genetic differences may lead to this anatomy, but we did not perform any genetic analysis in our study. In older RAI patients, survival after single stage total cavopulmonary connection is good.
Further studies, especially genetic studies, are warranted to improve the long-time results for these older patients. All authors read and approved the final manuscript. The authors wish to acknowledge the contribution of Yan Jun Pediatric Center of Cardiac Surgery Cardiovascular for instruction in surgery. Sun Yan and Wang Jianpeng contributed equally to this work.
Sun Yan, Email: moc. Wang Jianpeng, Email: moc. Quan Xin, Email: moc. Zhang Minghui, Email: moc. Zhang Li, Email: moc. Wang Hao, Email: moc. National Center for Biotechnology Information , U. Published online Aug Author information Article notes Copyright and License information Disclaimer. Corresponding author. Received Oct 22; Accepted Aug 5. Conclusion Patients with RAI who have survived to early childhood without surgical intervention have complex cardiac abnormalities.
Background Congenital heart disease CHD affects 0. Open in a separate window. Atrioventricular valve morphology and function AVV morphology and function are important factors when considering surgery. Study limitations Our institution, Fuwai Hospital,is a specialty institution with Pediatric Cardiac Surgical Center for congenital cardiac patients. Acknowledgements The authors wish to acknowledge the contribution of Yan Jun Pediatric Center of Cardiac Surgery Cardiovascular for instruction in surgery.
Competing interests The authors declare that they have no competing interests. Footnotes Sun Yan and Wang Jianpeng contributed equally to this work. Contributor Information Sun Yan, Email: moc. Molecular geneticsof heterotaxy syndromes. Curr Opin Cardiol. Outcome of infants with right atrial isomerism: is prognosis better with normal pulmonary venous drainage? Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome. Cardiol Young.
Factors influencing survival of patients with heterotaxy syndrome undergoing Fontan procedure. J Am Coll Cardiol. The outcome of patients with right atrial isomerism is poor.
Right atrial isomerism in children older than 3 years
There is a high mortality in infants with right atrial isomerism RAI. However, less is known about outcome in older children with RAI. None of the patients had surgical intervention for the RAI before age 3. None of them planned or had biventricular repair performed.
The Outcome of Patients With Right Atrial Isomerism Is Poor
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