Defects in the determination of left-right asymmetry.

Splitt, Miranda; Burn, John; Goodship, Judith A.

doi:10.1136/jmg.33.6.498

Cited by 80 publications

(45 citation statements)

References 77 publications

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“…7 The prevalence of situs inversus totalis seems to range between 1 in 8000 and 1 in 25 000. 8 It is a condition in which the morphologic right atrium is on the left and the morphologic left atrium is on the right. The normal pulmonary anatomy is reversed such that the left lung has 3 lobes and the right lung has 2.…”

Section: Discussionmentioning

confidence: 99%

Congenital Diaphragmatic Hernia and Situs Inversus Totalis

et al. 2004

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ABBREVIATIONS. ECMO, extracorporeal membrane oxygenation; VA-ECMO, venoarterial ECMO. C ongenital diaphragmatic hernia is a relatively rare disorder (1:3000 newborns) that frequently presents with respiratory distress in the immediate neonatal period due to severe pulmonary hypertension and lung hypoplasia. Extracorporeal membrane oxygenation (ECMO) can be used as a last resort when artificial ventilation and/or modulation of the pulmonary vascular tone fail to improve the clinical condition.Situs inversus totalis is a rare condition in which orientation of all asymmetrical organs in the body is a mirror image of the normal morphology. 1 Diaphragmatic hernia may be caused by predisposing genes that are involved in left-right axis determination.A few cases of an eventration of the diaphragm combined with situs inversus totalis have been described in the literature. We report for the first time a patient with a right-sided posterolateral diaphragmatic hernia, type Bochdalek, and a situs inversus totalis for which contralateral cannulation for the institution of venoarterial ECMO (VA-ECMO) was warranted. CASE REPORTA girl with a birth weight of 3810 g, born at the postmenstrual age of 39 ϩ 6 weeks, developed acute respiratory distress, cyanosis, and lethargy within 30 minutes after birth. Physical examination revealed a scaphoid abdomen and decreased breathing sounds at the right side of the thorax. A chest radiograph revealed that the heart and mediastinum were displaced to the left and that the right pleural cavity was filled with intestines (Fig 1). Ultrasound confirmed that the right hemithorax was almost completely filled with loops of intestine, mesenterial fat, and the spleen due to a large defect in the right hemidiaphragm. An abdominal situs inversus was documented; ie, a normally formed liver positioned left and the spleen on the right side. Echocardiography confirmed a left descending aorta and a mirror image dextrocardia; ie, a structurally normal heart mirrored and unusually positioned in the right chest. At first, there were no signs of clinical, relevant pulmonary hypertension on ultrasonography.Karyotyping revealed a normal female (46XX). Family history showed no parental consanguinity and no congenital anomalies or minor laterality defects. Initial management consisted of emergency endotracheal intubation. Next, different ventilatory settings were used to optimize oxygenation, ranging from conventional mechanical ventilation to high-frequency oscillation with these following maximum settings: frequency, 10 Hz; mean airway pressure, 17; ␦ P, 50; fractional inspired oxygen concentration, 100%. Supportive therapy consisted of exogenous surfactant (Alvofact, 50 mg/kg, Boehringer Inc, Ingelheim, Germany), cardiovascular support with inotropic agents (maximum dosages: dopamine, 20 g/kg per min; dobutamine, 20 g/kg per min; noradrenaline, 0.3 mg/kg per min), and pulmonary vasodilators such as inhaled nitric oxide (maximum dosage: 20 ppm).Because the girl showed progressive respiratory failure complicated ...

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Section: Discussionmentioning

confidence: 99%

Congenital Diaphragmatic Hernia and Situs Inversus Totalis

et al. 2004

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“…The cardiac defects more frequently reported were pulmonary stenosis and septal defects. MC/ monoamniotic twins have the highest risk of CHD with a significantly increased prevalence of disturbances of laterality and heterotaxy [62,63] .…”

Section: High-risk Populationsmentioning

confidence: 99%

Early Evaluation of the Fetal Heart

et al. 2017

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Evaluation of the fetal heart at 11-13 + 6 weeks of gestation is indicated for women with a family history of congenital heart defects (CHD), a previous child with CDH, or an ultrasound finding associated with cardiac anomalies. The accuracy for early detection of CHD is highly related to the experience of the operator. The 4-chamber view and outflow tracts are the most important planes for identification of an abnormal heart, and can be obtained in the majority of fetuses from 11 weeks of gestation onward. Transvaginal ultrasound is the preferred route for fetal cardiac examination prior to 12 weeks of gestation, whereas, after 12 weeks, the fetal heart can be reliably evaluated by transabdominal ultrasound. Cardiac defects, such as ventricular septal defects, tetralogy of Fallot, Ebstein's anomaly, or cardiac tumors, are unlikely to be identified at ≤14 weeks of gestation. Additional ultrasound techniques such as spatiotemporal image correlation and the evaluation of volumes by a fetal-heart expert can improve the detection of congenital heart disease. The evaluation of the fetal cardiac function at 11-13 + 6 weeks of gestation can be useful for early identification of fetuses at risk of anemia due to hemoglobinopathies, such as hemoglobin Bart's disease.

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“…In right isomerism, there is a lack of left sided structures. Thus, lungs are trilobed, atrial appendages are pyramidal in shape, the liver is symmetrical, and there is almost always a lack of a spleen (asplenia) (Splitt et al, 1996). In case of left isomerism there is a general lack of typically right-sided structures.…”

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confidence: 99%

“…In human patients with situs inversus, which has a prevalence of 1/10,000 (Splitt et al, 1996), medical complications are rare, although congenital heart defects are more frequent (Ramsdell, 2005). The situation becomes more severe if asymmetry generation is not consistent among organs, a condition that has been named situs ambiguus or heterotaxia.…”

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confidence: 99%

“…The situation becomes more severe if asymmetry generation is not consistent among organs, a condition that has been named situs ambiguus or heterotaxia. Isolated dextrocardia with the abdominal viscera in the normal position is associated with severe cardiac malformations including ventricular septal defects, single ventricle, valve defects and abnormalities of the systemic and pulmonary blood flow (Splitt et al, 1996). Heterotaxia also includes isomerism, a condition in which normally lateralized organs instead develop left or right symmetry.…”

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confidence: 99%

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Left-right axis development: examples of similar and divergent strategies to generate asymmetric morphogenesis in chick and mouse embryos

Schlueter

Brand

2007

Cytogenet Genome Res

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Left-right asymmetry of internal organs is widely distributed in the animal kingdom. The chick and mouse embryos have served as important model organisms to analyze the mechanisms underlying the establishment of the left-right axis. In the chick embryo many genes have been found to be asymmetrically expressed in and around the node, while the same genes in the mouse show symmetric expression patterns. In the mouse there is strong evidence for an establishment of left-right asymmetry through nodal cilia. In contrast, in the chick and in many other organisms left-right asymmetry is probably generated by an early-acting event involving membrane depolarization. In both birds and mammals a conserved Nodal-Lefty-Pitx2 module exists that controls many aspects of asymmetric morphogenesis. This review also gives examples of divergent mechanisms of establishing asymmetric organ formation. Thus there is ample evidence for conserved and non-conserved strategies to generate asymmetry in birds and mammals.

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Defects in the determination of left-right asymmetry.

Cited by 80 publications

References 77 publications

Congenital Diaphragmatic Hernia and Situs Inversus Totalis

Congenital Diaphragmatic Hernia and Situs Inversus Totalis

Early Evaluation of the Fetal Heart

Left-right axis development: examples of similar and divergent strategies to generate asymmetric morphogenesis in chick and mouse embryos

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