Hypoplastic Arch Research Articles

Modified Atlantoaxial Arthrodesis Technique for Atlantoaxial Instability via Intraarticular Autografting Using Structural Iliac Bone: Technical Nuances and Case Series

ObjectiveThe present study described a modified technique of atlantoaxial arthrodesis in patients with atlantoaxial instability (AAI) along with the postoperative clinical and radiological results. MethodsFive patients underwent this method for their AAI concurrent with C1 arch hypoplasia and/or the development of odontoid pannus causing myelopathy. After thorough exposure of the posterior surface of the C1-2 complex, the bilateral C2 nerve roots were sectioned to allow for easier access to the C1/2 facet joints. To prepare a suitable grafting bed, the C1/2 facet capsule was opened, then the articular cartilaginous and synovial tissues were thoroughly removed. After being properly fashioned to match the gap between the C1/2 facet joint spaces, the structural bone grafts from the iliac crest were directly inserted into the facet joint spaces. To alleviate cord compression caused by concomitant odontoid pannus and/or hypoplastic C1 arch, C1 laminectomy was necessitated in all cases. Subsequently, posterior screw-rod instrumental fixation was conducted. ResultsAll five patients underwent this procedure successfully. Clinical and radiological follow-up data of all patients indicated favorable relief of clinical symptoms and early rigid C1-2 stability. The sequelae of C2 nerve resection were not remarkable. No other neural or vascular damage associated with this technique was observed. ConclusionModified atlantoaxial arthrodesis via intraarticular autografting using the structural iliac bone combined with posterior instrumentation appears to be an efficient alternative treatment method for AAI patients with concurrent pathologies, even when the C1-2 posterior arches are unavailable for the grafting bed.

The Management of Aortic Coarctation Associated with Hypoplastic Arches and Particular Arch Anatomies: A Literature Review.

The surgical management of aortic coarctation in newborns needs to ensure postoperative evolution and long-term results as much as possible. Patients with a Gothic arch have a higher rate of postoperative hypertension, while newborns with a bovine arch have higher rates of restenosis and, thus, an additional risk of mortality. Late hypertension, even in anatomically successfully repaired patients, confers a high risk for cardiovascular events. This review of the literature focuses on the management of aortic coarctations associated with hypoplastic arch and particular arch anatomies, focusing on surgical techniques and their outcomes.

Aortic Coarctation Associated with Distal Aortic Arch Hypoplasia in Neonates Can Be Effectively Repaired through Left Thoracotomy

Objectives. Aortic coarctation in neonates remains a clinical challenge. Low weight, arch hypoplasia and ductal dependence have been identified as risk factors for recurrent coarctation. We hypothesized that a tailored surgical technique may prevent recurrence. Methods. Retrospective evaluation of neonates treated for coarctation through thoracotomy was done. No primary percutaneous procedure was performed and repairs through sternotomy were excluded. Aortic hypoplasia was defined as a ratio arch diameter (mm)/patient’s weight (kg) < 1. Extended end-to-end anastomosis (EEEA), subclavian flap (Waldhausen) and Amato aortoplasty were performed. Mortality and recurrent obstruction requiring re-intervention were assessed. Results. Records of 340 consecutive patients (2003–2019) were analyzed. Preoperative median age and weight were, respectively, 10 days (1–30) and 3080 grams (1400–5180). Arch hypoplasia was documented in 31 patients (9.1%). Prostaglandin was infused in 220 (65.3%). Critical preoperative status was documented in 35 (10.8%). EEEA repair was performed in 273 (80.3%), Waldhausen was performed in 42 (12.4%), and Amato was performed in 25 (7.4%). The last two were more likely to be performed in the presence of arch hypoplasia ( p < 0.0001). Hospital mortality occurred in 2 patients (0.6%). Thirty-six procedures (31 percutaneous/5 surgical) were performed for recurrent arch obstruction in 33 patients. Three late deaths occurred. Low-weight, hypoplastic arch, and ductal dependency did not influence the outcome. All survivors were free from residual coarctation at a mean follow-up of 3.6 ± 3.4 years postoperatively. Conclusions. Surgical repair remains the procedure of choice for neonatal coarctation. A tailored approach using alternative techniques seemed to offer comparable results even in presence of associated risk factors.

Bronchus compression is a predictor for reobstruction in coarctation with hypoplastic arch repair.

The surgical treatment of coarctation of aorta with hypoplastic aortic arch (CoA/HAA) was challenging to achieve long-lasting arch patency. We reviewed early and late outcomes in our centre and identified predictors for arch reobstruction. A retrospective analysis of medical records was performed to identify CoA/HAA patients who underwent primary arch reconstruction via median sternotomy between 2011 and 2020. Preoperative aortic arch geometry was analysed with cardiac computed tomographic angiography. Bedside flexible fibre-optic bronchoscopy was routinely performed after surgery in intensive care unit. There were 104 consecutive patients (median age 39.5 days) who underwent extended end-to-end anastomosis, extended end-to-side anastomosis and autograft patch augmentation. Early mortality was 3.8% and overall survival was 94.1% [95% confidence interval (CI) 89.6-98.8%] at 1, 3 and 5 years. Reobstruction-free survival was 85.1% (95% CI 78.4-92.3%) at 1 year, 80.6% (95% CI 73.1-88.9%) at 3 years and 77.4% (95% CI 69.2-86.6%) at 5 years. Preoperative aortic arch geometric parameters were not important factors for reobstruction. Nineteen patients (18.3%) were detected with left main bronchus compression (LMBC) on flexible fibre-optic bronchoscopy. Cardiopulmonary bypass time [P < 0.001, hazard ratio (95% CI): 1.02 (1.01-1.03)] and postoperative LMBC [P = 0.034, hazard ratio (95% CI): 2.99 (1.09-8.23)] were independent predictive factors on multivariable Cox regression analysis of reobstruction-free survival. Aortic arch can be satisfactorily repaired by extended end-to-end anastomosis, extended end-to-side anastomosis and autograft patch augmentation via median sternotomy in CoA/HAA. Cardiopulmonary bypass time and postoperative LMBC detected by flexible fibre-optic bronchoscopy are significant predictors for long-term arch reobstruction.

Outcomes of the Arterial Switch Operation in Patients With Dextrocardia

Patients with dextrocardia and d-transposition of the great arteries (d-TGA) present a technical challenge when performing the arterial switch operation (ASO). We sought to determine the long-term outcomes of this rare presentation. All patients who underwent the ASO with d-TGA and dextrocardia were identified from the hospital database. There were four patients with dextrocardia (4 of 844, 0.5%) patients; two patients had situs solitus and two patients had situs inversus. Three patients had a ventricular septal defect. Left ventricular outflow tract obstruction was present in one patient and one patient had a hypoplastic arch with severe coarctation of aorta. Anomalous coronary anatomy occurred in two patients. There was one early mortality and the cause of death was sepsis. One patient required late reoperation for severe neo-pulmonary valve regurgitation at 23 years after the ASO. At last follow-up, all three surviving patients were in New York Heart Association Class I. Patients with d-TGA and dextrocardia who undergo the ASO are extremely rare and require challenging operative management.

The possibilities of modern radiological modalities in aortic coarctation diagnosis and preoperative planning in infants and young age group children

Objective. Evaluation of diagnostic value of modern imaging modalities: trans-thoracic echocardiography (TTE), CT-angiography (CTA) and cardio-MRI in diagnosis and preoperative planning of aortic coarctation correction (CoA) in in infants and young age group children.Materials and methods. 101 pediatric patients (aged 0 to 5 years) with CoA underwent TTE, 98 of them underwent CT, 30 – cardio MRI. On TTE, CTA and cardio-MRI aorta morphometry was performed. The most common anomalies associated with CoA (ventricular septal defect (VSD), patent ductus arteriosus (PDA), aberrant right subclavian artery (ARSA), hypoplastic arch and brachiocephalic vessels anomalies) were assessed.Results. The overall diagnostic accuracy of TTE, CT and cardiac-MRI in diagnosis of CoA were 89.1%, 95.9%, 86.7% respectively. There was no significant difference in the accuracy in detecting CoA between TTE, CT and MRI (p &gt; 0.05). The accuracy of TTE in determining the brachiocephalic vessels anomalies, ARSA and arch hypoplasia was 84%, 93% and 85.3%, respectively. The accuracy of CT in determining the brachiocephalic vessels anomalies, ARSA and arch hypoplasia was 100%, 100% and 98% and cardio-MRI: 97.1%, 98.4% and 96.8%, respectively.Conclusion. TTE is a widely available and safe method, it has a high diagnostic value in determining CoA. Due to limitations in visualization of all parts of the aortic arch and the detection of concomitant anomalies, TTE cannot be the final method in planning the CoA correction. CT and MRI of the heart, as a TTE, are effective methods in the diagnosis of CoA, however, in the assessment of extracardiac anomalies, they equally show a significantly more accurate result.Taking into account the difficulties in conducting MRI of the heart in children under one year and younger age group, the need for a longer stay in anesthesia, the lack of additional diagnostically significant information in comparison with CT of the heart, cardio-MRI is not the method of choice in the primary diagnosis and preoperative planning of correction of CoA in children under one year and younger age group requiring the use of an anesthetic aid for the duration of the scan. Cardio-MRI may be the method of choice in preoperative planning of CoA in small children with absolute contraindications to the radiocontrast agent.

A tale of 2 conversions: Dichotomous decision in the spectrum of Shone syndrome is still a dilemma

A tale of 2 conversions: Dichotomous decision in the spectrum of Shone syndrome is still a dilemma

Distinctive Skeletal Phenotype in Patients with Kniest Dysplasia

Background: A group of children presented with diverse forms of spine and joint pathologies in correlation with heritable bone disorders. Patients and Methods: Five children aged from 9 -13 years, presented with a constellation of growth retardation, craniofacial dysmorphic features, axial (scoliotic short and barrel chested with marked diminution of spine biomechanics) and painful enlarged joints and sometimes with the propensity to develop mal-alignment (knock knees). We included a 38-years-old-lady, a mother of an affected boy because of her long term history of joint pain and intractable tinnitus. Clinical and radiographic phenotypic characterizations were the first line tools applied. Results: The clinical and radiographic phenotypes of all five children were consistent with the diagnosis of Kniest dysplasia. Strikingly, the reason behind the tinnitus in the short statured 38-years-old- lady was due to congenital hypoplasia of the posterior arch of the atlas (the hypoplastic posterior arch of the atlas was in connection with the developmental failure of chondrogenesis). Two children underwent the genetic testing and showed a genetic defect of encoding type II collagen (COL2A1). Conclusion: Sadly speaking, soon after birth the vast majority of children born with skeletal dysplasia received the misdiagnosis of achondroplasia by their pediatricians and geneticists. In practice, a misdiagnosis can lead to hazardous repercussions for the affected children and their families. Correctly interpreting the clinical and the radiological phenotypes and relating them to etiologies is an essential basis for the proper management. In the field of hereditary bone disorders, the existence of mild and moderate forms of the same disease within other family subjects is a well-known fact (as seen in a 38-years-old- short statured- lady, a mother of an affected boy with Kniest dysplsia). To counter the overlooked maldevelopment of the atlanto-axial effectively, we need to delineate the disrupted anatomical structures of the craniocervical junction as early as possible. It is important to understand that many of these diseases are so mysterious and daunting that they frighten even some practitioners. Therefore, educating physicians is a priority.

Challenges of prenatal diagnosis of fetal hypoplastic aortic arch and predication of the need for intervention.

Prenatal diagnosis of hypoplastic aortic arch and coarctation of aorta is still challenging and remains one of the most difficult cardiac defects to diagnose. The results reveal a significant improvement of prenatal diagnosis of hypoplastic arch and coarctation of aorta. The data also shows the significant overlapping of fetal aortic isthmus z score between the infants who need the arch procedure and those who do not.

Midterm safety and outcome of balloon angioplasty of native aortic coarctation in neonates and young infants and initial experience of prepartial dilatation using high-pressure noncompliant balloon.

Background:Balloon angioplasty (BA) for aortic coarctation in neonates and infants remains controversial due to high recurrence rate and vascular complications.Aim:This study aimed to determine the safety and outcome of percutaneous treatment of coarctation in neonates and infants and to share the initial experience of strategy of prepartial dilatation with high-pressure noncomplaint balloon before final targeted dilatation using low-pressure compliant balloon.Materials and Methods:Retrospective analysis of records of all neonates and infants aged <6 months who underwent BA either using only low-pressure balloon (Group A) or those with prepartial dilatation using high-pressure noncomplaint balloon followed by low-pressure compliant balloon (Group B) between July 2017 and February 2020 was performed. Demographic, clinical, echocardiographic, interventional, and follow-up data were collected for all.Results:A total of 51 patients (41.2% neonates) were included in the study. Median age was 1 month 14 days (60.8% girls) and mean weight was 3.6 ± 1.5 kg. The mean peak trans-coarctation gradient was 53 ± 12 (34–80) mmHg. The final pressure gradient dropped to <10 mmHg in all cases of Group B and only in 26.3% (5) patients of Group A (P < 0.001). Recoarctation rate was 25.5% (13) overall and was significantly higher in Group A patients (P < 0.001), in those with borderline/mildly hypoplastic arch (P = 0.04) and in those with postprocedure gradient between 10 and 20 mmHg (P = 0.02). Median time to re-coarctation was significantly delayed in Group B (P < 0.001). There were no major complications or mortality in either group.Conclusions:BA in neonates and young infants has an excellent short and mid-term safety and efficacy. The recoarctation rate is significantly reduced as well as delayed with prepartial dilatation using high-pressure noncompliant balloon.

Tailored surgical technique for neonatal coarctation repair through thoracotomy

Aortic coarctation in neonate continues to pose a clinical challenge. Low weight, arch hypoplasia and ductal dependence have been identified as risk factors for recurrent coarctation. We hypothesized that a tailored surgical technique may prevent this complication. Retrospective evaluation of neonates who presented for coarctation repaired through thoracotomy was conducted. No primary percutaneous procedure was performed and sternotomy repairs were excluded. Hypoplasia was defined as a ratio of echocardiographic and perioperative distal arch diameter (mm)/weight (kg) < 1. Traditional extended end-to-end anastomosis (EEE), subclavian flap (Waldhausen) and double flap distal arch enlargement by Amato aortoplasty were employed. Mortality and recoarctation requiring reintervention in follow-up were assessed. Records of 340 patients (2003–2019) were analyzed. Median age and weight at repair were 10 [2–30] days and 3080 [1100–5200] g, respectively. Arch hypoplasia was documented in 31 patients (9.1%). Prostaglandin was infused in 220 (65.3%), preoperative mechanical ventilation and inotropic support was documented in 35 (10.8%). EEE repair was performed in 273 (80.3%). Waldhausen in 42 (12.4%) and Amato in 25 (7.4%) were more likely to be performed in presence of arch hypoplasia ( P < 0.0001). Concomitant PAB for associated VSD was necessary in 72 (21.2%). Hospital mortality occurred in 2 (0.58%). Thirty-six procedures (31 percutaneous, 5 surgical) for recoarctation were performed in 33 patients in a median delay of 111 [26–3050] days. One late death occurred. Both low weight ( P = 0.14), hypoplastic arch ( P = 0.65) and ductal dependency ( P = 0.34) did not influence outcome. At 3.6 ± 3.4 years postoperatively, all survivors presented with no residual coarctation. Primary surgical repair for neonatal coarctation still appears to be the gold standard. Even in presence of associated risk factors, a tailored approach using alternative techniques seems to offer comparable results in neonatal coarctation repair.

Neonates With Right Aortic Arch Requiring Arch Reconstruction: A Single-Institution Experience

BackgroundReconstruction of a right aortic arch is rarely required in the newborn period and has rarely been reported. MethodsAll patients who underwent a right aortic arch repair in the neonatal period from a single institution were retrospectively reviewed. The primary outcome measures included survival, complications, and reintervention. ResultsBetween 1984 and 2020, 15 patients were identified. Nine patients (60%) presented with an interrupted aortic arch, 5 with a hypoplastic arch (33%), and 1 with anomalous origin of the brachiocephalic vessels (7%). All patients had associated complex congenital heart disease. Median age at surgery was 6 days (range, 2-29 days); median weight was 3.11 kg (range, 2.5-4.18 kg). Genetic syndromes were prevalent and 77% of interrupted aortic arch patients had DiGeorge syndrome. Surgical techniques included end-to-side (27%), end-to-end (27%), or side-to-side anastomosis (13%) and placement of an interposition graft (7%); 65% required patch augmentation. Median intensive care unit and total hospital length of stay were 20 days (range, 7-92 days) and 28 days (range, 10-240 days), respectively. At a median follow-up of 3.97 years (range, 0.19-36 years), 13 of 15 patients were alive (87%). We found vocal cord paralysis in 27%, hemidiaphragm paralysis in 13%, and considerable airway compression in 27%. Overall, 27% patients required reintervention on the aortic arch: 2 surgical and 2 percutaneous balloon dilation. ConclusionsRight aortic arch reconstruction in the newborn period is rare and associated with complex lesions with an acceptable reintervention rate.

Prevalence of malocclusions in children with microcephaly associated with the Zika virus

The objectives of this study were to determine the prevalence of malocclusion among children with Zika virus-associated microcephaly (MZV) and to describe the most common malocclusion in this population. This was a cross-sectional study including patients aged between 30 and 36months diagnosed with MZV. Healthy children were randomly selected with the same sociodemographic characteristics as the control group. Information about arch-type, primate spaces, arch form, overbite, overjet, midline deviation, anterior crossbite, anterior open bite, and the posterior crossbite was recorded. The statistical analysis used descriptive analysis, Pearson chi-square test, and multivariate logistic regression. Forty children comprised the MZV group, and 40 comprised the control group. Our results demonstrated a significantly higher prevalence of malocclusions in children who had MZV than the control group (P<0.001). Patients with MZV were more likely to have late eruption (P<0.001), hypoplastic maxillary arch (P<0.001), hypoplastic mandibular arch (P<0.001), excessive overjet (P<0.001), and posterior crossbite (P=0.004). The prevalence of malocclusion was higher among children with MZV. Late eruption, hypoplastic maxillary arch, hypoplastic mandibular arch, excessive overjet, and posterior crossbite were the most common characteristics for this population.

Pharyngeal epithelial deletion of Tbx1 causes caudal pharyngeal arch defect but not cardiac conotruncal anomaly

TBX1 is a major disease gene of 22q11.2 deletion syndrome (22q11.2DS). It is expressed in all three germ layers of pharyngeal apparatus to control the complicated morphogenesis. The haploinsufficiency of pharyngeal endodermal or ectodermal, but not mesodermal Tbx1 causes aortic arch patterning defect. However, the mesodermal deletion of Tbx1 causes much severer pharyngeal and cardiovascular defect than either pharyngeal endodermal or ectodermal Tbx1 deletion does. It is inconsistent with the conventional thought that the invagination of pharyngeal epithelia drives pharyngeal segmentation. Therefore, we asked whether pharyngeal ectodermal and ectodermal Tbx1 can compensate the loss of each other. Here we carefully characterized pharyngeal epithelia-specific Fgf15Cre and Fgf15HspCre lines and used them to perform pharyngeal epithelia-specific deletion. Our data showed that the percentage of E18.5 Fgf15Cre;Tbx1flox/+ embryos with aortic arch patterning defects was similar to that of E10.5 Fgf15Cre;Tbx1flox/+ embryos with the 4th pharyngeal arch artery (PAA) defect, indicating that there is no significant recovery from the initial PAA defect, in contrast to germ line haploinsufficiency. Fgf15Cre;Tbx1flox/flox embryos had hypoplastic caudal pharyngeal arch and defective derivatives, but cardiac OFT development was not affected. The phenotypic spectrum of simultaneous Tbx1 deletion in both pharyngeal ectoderm and endoderm is strikingly similar to what presents with single pharyngeal endoderm or ectoderm-specific deletion of Tbx1. The absence of synergistic effect indicates intimate topographic interactions among pharyngeal endoderm and ectoderm, through which deletion of a gene in one tissue may disrupt the development of adjacent tissues and thereby lead to similar morphological phenotypes in either tissue-specific deletion.

Diagnosis of coarctation with hypoplastic aorta arch

The tactics of active surgical intervention in the diagnosis of coarctation of the aorta with hypoplasia concominant arc in the early stages generally leads to significant improvement in long-term results after surgery. This decrease in the number of cases of recoarctation and persistent increase in blood pressure leads to systemic hypertension. Currently there are many techniques that allow to precisely diagnose the stage of hypoplasia of the aortic arch. This allows you to plan the tactics of surgical treatment of the aortic arch in young patients.

Is analysis of physiological late gestation ventricular-arterial disproportion futile?

Ventricular-arterial disproportion is a frequent observation in late gestation and mostly considered physiological. It is also an indirect prenatal sign for postnatal coarctation. To investigate the remnant risk for coarctation and its possible risk factors in a fetal population with physiological late gestation asymmetry. This was a monocentric, retrospective study conducted from 2014 till 2017 in a Fetal Cardiology Unit. All foetuses referred for third trimester asymmetry with pulmonary artery/aorta ratio > 1.2 were included. Annular sizes, arterial Z-scores, valve ratios, isthmus size if available and minor associated cardiac defects were analyzed. One hundred and one foetuses were referred at a mean gestational age of 33.5 SA. After foetal echocardiography, 2% (3/151) were considered at high risk for coarctation because of a hypoplastic arch and/or a small left outflow tract or isthmus. They were scheduled to deliver in a tertiary referral center. Two of these three newborns developed coarctation. In 98% of foetuses, asymmetry was considered physiological with a normally sized aortic arch without the “shelf sign”. All infants had an early ambulatory echocardiography that revealed coarctation in 7/148 cases (4.7%). There were no significant differences in mean arterial annular sizes, aortic and pulmonary Z-scores, pulmonary artery/aorta ratio, atrioventricular annular sizes, tricuspid/mitral valve ratio, presence of ventricular septal defect or left persisting superior caval vein between the two groups. Remnant risk for coarctation in a foetal population with physiological late gestation asymmetry is < 5%. Prenatal counselling can be reassuring since the majority of infants will have a normal heart. However early cardiac evaluation of these newborns remains recommended to exclude the rare event of postnatal coarctation in absence of prenatal predictive signs.

Is analysis of physiological late gestation ventricular-arterial disproportion futile?

Ventricular-arterial disproportion is a frequent observation in the third trimester and mostly considered physiological. It is also an indirect prenatal sign for postnatal coarctation. We sought to investigate the remnant risk for coarctation and its possible risk factors in a fetal population with physiological late gestation asymmetry. This was a monocentric, retrospective study conducted from 2014 till 2017 in a Fetal Cardiology Unit. All fetuses referred for third trimester asymmetry with pulmonary artery/aorta ratio > 1.2 were included. Annular sizes, arterial Z-scores, valve ratios, isthmus size if available and minor associated cardiac defects were analyzed. 151 fetuses were referred at a mean gestational age of 33.5 SA. After fetal echocardiography, 2% (3/151) were considered at high risk for coarctation because of a hypoplastic arch and/or a small left outflow tract or isthmus. They were scheduled to deliver in a tertiary referral center. Two of these 3 newborns developed coarctation. In 98% of fetuses asymmetry was considered physiological with a normally sized aortic arch without the “shelf sign”. All infants had an early ambulatory echocardiography that revealed coarctation in 7/148 cases (4.7%). There were no significant differences in mean arterial annular sizes, aortic and pulmonary Z-scores, pulmonary artery/aorta ratio, atrioventricular annular sizes, tricuspid/mitral valve ratio, presence of ventricular septal defect or left persisting superior caval vein between the two groups. Remnant risk for coarctation in a fetal population with physiological late gestation asymmetry is < 5%. Prenatal counselling can be reassuring since the majority of infants will have a normal heart. However early cardiac evaluation of these newborns remains recommended to exclude the rare event of postnatal coarctation in absence of prenatal predictive signs.

A single centre experience with an evolving approach for the repair of coarctation of the aorta.

Isolated coarctation of the aorta can be repaired by either lateral thoracotomy or sternotomy approach with end-to-end anastomosis. Most commonly, neonates with coarctation of the aorta also have hypoplasia of the arch, requiring median sternotomy and extended end-to-side anastomosis with arch augmentation. The aim of this study was to describe our experience as the institution adopted the median sternotomy approach for repair, by reviewing complications, mortality, and reintervention. Retrospective chart review of 66 patients aged 0-1 year who had arch repair performed by a single surgeon over an 8-year period was performed. Median age at surgery was 22 days (4-232) and median weight was 3.08 kg (1.25-8.0). Forty-one (62%) patients underwent median sternotomy. There was 1 death from a noncardiac cause. Eighteen per cent of our patients were ≤2.5 kg. Vocal cord paresis occurred in 16% of patients under 2.5 kg and 9.5% of patients 2.5 kg or above at the time of surgery. Hypertension at 6-month follow-up was greater in patients under 2.5 kg (44%) than patients 2.5 kg or above (15%). Total surgical reintervention rate was 6%. For patients above 2.5 kg, the surgical reintervention rate was 5.4% and for patients below 2.5 kg, the surgical reintervention rate was 8.3%. We concluded that for neonates with coarctation of the aorta and hypoplastic arch, median sternotomy is a safe surgical approach with low morbidity and mortality with the possible advantage of reduced surgical re-intervention and mortality in the population below 2.5 kg.

Hypothermic circulatory arrest with or without antegrade cerebral perfusion for aortic arch surgery in infants

Background: Antegrade cerebral perfusion (ACP) minimizes deep hypothermic circulatory arrest (DHCA) duration during arch surgery in infants, which may impact the outcomes of the repair. We aimed to evaluate the effect of adding antegrade cerebral perfusion to deep hypothermic circulatory arrest on DHCA duration and operative outcomes of different aortic arch operations in infants.&#x0D; Methods: We retrospectively collected data from infants (&lt;20 weeks old) who underwent aortic arch reconstruction (Norwood operation, arch reconstruction for the hypoplastic arch and interrupted aortic arch) using DHCA alone (n=88) or combined with ACP (n=26). We excluded patients who had concomitant procedures and those with preoperative neurological disability.&#x0D; Results: There was no difference between groups as regards the age, gender, and the operation performed (p= 0.64; 0.87 and 0.50; respectively). Among the 114 patients, 11 (9.6%) had operative mortality, and 14 (12.3%) had cerebral infarction diagnosed with CT scanning. Adding ACP to DHCA significantly reduced DHCA duration from 50.7 ± 10.6 minutes to 22.4 ± 6.2 minutes (p&lt;0.001) and lowered the mortality (11 vs. 0; p=0.066) and cerebral infarction (13 vs. 1; p=0.18). No statistically significant difference between the two groups in terms of ischemic time (p=0.63) or hospital stay duration (p=0.47).&#x0D; Conclusion: Using ACP appears to reduce the DHCA duration and was associated with better survival and neurological outcomes of aortic arch surgery in infants. A study with longer follow-up to evaluate the long-term neurological sequelae is recommended.

Trps1 Regulates Development of Craniofacial Skeleton and Is Required for the Initiation of Palatal Shelves Fusion.

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disorder resulting from heterozygous mutations of the TRPS1 gene. Common craniofacial abnormalities in TRPS patients include micrognathia, hypoplastic zygomatic arch, high-arched palate, and, occasionally, cleft palate. Studies have demonstrated that mice with a heterozygous Trps1 mutation (Trps1+/− mice) have similar features to patients with TRPS, including high-arched palates. However, mice with a homozygous Trps1 mutation (Trps1−/− mice) exhibit similar but more severe abnormalities, including cleft palate. Our study aimed to characterize the craniofacial phenotype to understand the role of Trps1 in craniofacial development and gain insight on the cleft palate pathogenesis in Trps1 deficiency. Whole-mount skeletal staining revealed hypoplastic skeletal and cartilaginous elements, steep nasal slope, and missing presphenoid in Trps1−/− mice. Although several craniofacial skeleton elements were abnormal in Trps1−/− mice, the Trps1 deficiency did not appear to disrupt cranial vault development. All Trps1−/− mice presented with cleft palate. Analyses of Trps1 expression during palatogenesis detected Trps1 mRNA and protein in palatal mesenchyme and in specific regions of palatal epithelium, which suggested that Trps1 is involved in palatal fusion. Ex vivo culture experiments demonstrated that Trps1−/− palatal shelves were unable to initiate the fusion process. On the molecular level, Trps1 deficiency resulted in decreased epithelial expression of proteins involved in palatal fusion, including chondroitin sulfate proteoglycan, transforming growth factor-beta 3, Twist1, and beta-catenin. Mesenchymal expression of chondroitin sulfate proteoglycan expression was unaffected, indicating a cell type-specific mechanism of Trps1 regulation on chondroitin sulfate proteoglycan. In conclusion, we demonstrated that Trps1 is involved in the development of craniofacial skeletal elements and in the initiation of the palatal shelves fusion. Furthermore, our studies uncovered that Trps1 is required for epithelial expression of several proteins involved in the palatal shelves fusion.