Congenital Diaphragmatic Hernia and Situs Inversus Totalis

Abstract

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 ...

Une association malformative exceptionnelle: situs inversus totalis et hernie rétro-costo-xyphoidienne

“…L'association d'une hernie diaphragmatique et un situs inversus totalis reste exceptionnel. Un seul cas a été rapporté dans la littérature anglaise [12]. Il s'agissait d'une hernie de Bochdaleck.…”

Right Bochdalek Hernia Associated with Kartagener Syndrome: Developmental and Clinical Observations

“… 10 Three previous reports have described single laterality abnormalities in combination with a right-sided diaphragmatic defect; only one has shown an abdominal SI associated with a right-sided BH in which the karyotype was normal and the family history mentioned no other cases of laterality defects. 3 Retinoic acid has been implicated in both diaphragmatic development and situs anomalies. However, no evidence exists in the literature regarding the role of retinoic acid in KS.…”

“… 1 The incidence of CDH is 1 in 2,500 to 3,000 newborns. 2 3 Vertebrates exhibit evolutionarily conserved asymmetries in the pattern of internal organ placement, which are essential for normal physiological function. Left–right asymmetries in organ situs are dependent on the formation of an intact left–right axis during embryogenesis.…”

“…In situs inversus totalis, the heart is located on the right side of the chest, the left lung is trilobed and the right lung is bilobed, and the stomach and spleen occupy the right side, while the liver and gallbladder are present on the left side of the abdomen and the intestine is transposed. 3 The situs inversus (SI) condition has an estimated occurrence of 1 in 5,000 to 20,000 births and is either undiagnosed or is diagnosed incidentally during the investigation of another associated aliment. 4 5 One-fourth to one-fifth of patients with SI have a genetically heterogeneous, autosomal-recessive disorder known as primary ciliary dyskinesia (PCD), a dysfunction of the cilia that manifests during embryologic development.…”

“… 4 5 One-fourth to one-fifth of patients with SI have a genetically heterogeneous, autosomal-recessive disorder known as primary ciliary dyskinesia (PCD), a dysfunction of the cilia that manifests during embryologic development. 3 6 Normal functioning cilia are critical to the embryological development of proper organ laterality, and approximately 50% of PCD patients present with abnormalities of thoracoabdominal symmetry. 6 These patients have Kartagener syndrome (KS), initially reported in the early 1900s, which is characterized by the triad of SI, chronic sinusitis, and bronchiectasis.…”