TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy.

BACKGROUND: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to address future prenatal diagnosis. Here, we describe two families with various forms of inherited non-syndromic CHD and the genetic work-up and resultant findings. METHODS: Next-generation sequencing (NGS) was employed in both families to uncover the genetic cause. In addition, we performed functional analysis to investigate the consequences of the identified variants in vitro. RESULTS: NGS identified possible causative variants in both families in the protein kinase domain of the TGFBR1 gene. These variants occurred on the same amino acid, but resulted in differently substituted amino acids (p.R398C/p.R398H). Both variants co-segregate with the disease, are extremely rare or unique, and occur in an evolutionary highly conserved domain of the protein. Furthermore, both variants demonstrated a significantly altered TGFBR1-smad signaling activity. Clinical investigation revealed that none of the carriers had (signs of) aortopathy. CONCLUSION: In conclusion, we describe two families, with various forms of inherited non-syndromic CHD without aortopathies, associated with unique/rare variants in TGFBR1 that display altered TGF-beta signaling. These findings highlight involvement of TGFBR1 in CHD, and warrant consideration of potential causative TGFBR1 variants also in CHD patients without aortopathies.

Can Echocardiography Aid in Diagnosing Vascular Rings?

Even though cardiac computed tomography and magnetic resonance imaging are the gold standard for evaluating the aortic arch in the context of vascular rings in children, echocardiography is usually the first-line modality. The echocardiographic evaluation of the aortic arch in the context of vascular rings in children has received little attention. This article details the step-by-step echocardiographic assessment of the aortic arch in vascular ring patients.

The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.

Frank-Ter Haar syndrome (FTHS), sometimes referred to as Ter Haar syndrome, is a rare hereditary disorder that manifests in skeletal, cardiac, and ocular anomalies, including hypertelorism, glaucoma, prominent eyes, and facial abnormalities. In this study, we performed whole-exome sequencing (WES) to identify the genetic component responsible for the phenotype of the index patient, a male infant born to a consanguineous family from Saudi Arabia. The analysis revealed a homozygous missense variant, c.280C>G, in the SH3PXD2B gene, which cosegregates with the familial phenotype with a plausible autosomal-recessive mode of inheritance, indicating a potential disease-causing association. The SH3PXD2B gene encodes a TKS4 podosome adaptor protein that regulates the epidermal growth factor signaling pathway. This study validates the critical function of the TKS4 podosome protein by suggesting a common mechanism underlying the pathogenesis of FTHS.

Outcome of truncus arteriosus repair: 20 years of single-center experience comparing early versus late surgical repair.

BACKGROUND: Truncus arteriosus is a rare CHD. Neonatal and early infancy repair is recommended though some cases may present late. The aim of our study is to investigate the current results of truncus arteriosus repair and to analyse the differences in outcome and reintervention need between early versus late truncus arteriosus surgical repair. MATERIAL AND METHODS: In this cohort study, we reviewed all children who underwent truncus arteriosus repair from 2001 till 2021. We divided patients into two groups; early repair group including patients repaired at age less than 3 months and late repair group including patients who had repair at 3 months of age and later. We compared both groups for outcome variables. RESULTS: Sixty-four children had truncus arteriosus repair including 48(75%) patients in early repair and 16(25%) patients in late repair groups. Peri-operative course was comparable between both groups. Post-surgery, we observed pulmonary hypertension in 6(12%) patients in early repair group comparing with 11(69%) patients in late repair group (p = 0.0001). In the last follow-up visit, pulmonary hypertension resolved in all early repair group patients while 6(37.5%) patients in late repair group continued to have pulmonary hypertension (p = 0.0001). Twenty-three(36%) patients required reintervention including 22(48%) in early repair group versus 1(6%) in late repair group (p = 0.007). CONCLUSION: In general, the outcome of early truncus arteriosus repair is excellent with resolution of pulmonary hypertension following early repair. Late repair caries higher risk of persistent pulmonary hypertension (37.5%). About one-third of the patients who had truncus arteriosus repair will require re-intervention within 38±38.4 months after initial surgery.

Surgical outcome of Yasui procedure for preserving biventricular function: single centre experience.

BACKGROUND: Yasui procedure is surgical repair intended to preserve biventricular function for patients with left ventricle outflow tract obstruction associated with aortic arch lesions and ventricular septal defect. METHODS: Retrospective chart review analysis of all patients who had Yasui procedure (2008-2020) comparing midterm outcome of one versus two stage repair. RESULTS: Twenty patients (70% female) underwent Yasui procedure in our center. Eight patients (40%) had left ventricle outflow tract obstruction /interrupted aortic arch, 7 patients (35%) had left ventricle outflow tract obstruction /coarctation of aorta, 3 patients (15%) had double outlet ventricle and ventricular septal defect that were unattainable for tunneling to one of the semilunar valves without creating obstruction, and 2 patients (10%) had aortic atresia with hypoplastic aortic arch. All patients had associated ventricular septal defect. Fifteen patients (75%) had one-stage repair and 5 patients (25%) had two-stage repair. Means age and weight for one and two-stage repair were 1.3 ± 2 months, 13.4 ± 11.5 months and 3.3 ± 0.6 kg, 7.8 ± 3.4 kg, respectively. During follow up, 8 patients (40%) required re- intervention, mainly for right ventricle-pulmonary artery conduit either dilation or replacement. The average duration of follow up was 5 years with nil mortality. CONCLUSION: Yasui procedure is effective approach for children who have left ventricle outflow tract obstruction associated with aortic arch anomalies and ventricular septal defect. Survival rate with single or staged repair is comparably good. During the first 5 year of follow up, nearly 40% of operated patients required re-intervention.

Is Transposition of the Great Arteries Associated With Shortening of the Intrapericardial Portions of the Great Arterial Trunks? An Echocardiographic Analysis on Newborn Infants With Simple Transposition of the Great Arteries to Explore an Animal Model-Based Hypothesis on Human Beings.

Background The pathogenesis of transposition of the great arteries (TGA) as a congenital heart defect of the outflow tract with discordant ventriculoarterial connections remains an enigma. TGA usually have parallel great arteries suggesting that deficient torsion of the embryonic arterial heart pole might cause discordant ventriculoarterial connections. It has been speculated that deficient elongation of the embryonic outflow tract might prevent its normal torsion resulting in TGA. The aim of our study was to clarify whether the intrapericardial portions of the great arteries in human patients with TGA might be indeed shorter than in normal hearts. Methods and Results Thirty-four newborns with simple TGA and 35 newborns with normal hearts were analyzed by using images of the outflow tract in their echocardiograms and the following defined lengths of the great arteries were measured: aortic length 1, (AoL-1) and aortic length 2 (AoL-2) = distance between left and right aortic valve level and origin of the brachiocephalic artery, respectively. Pulmonary trunk length 1 (PTL-1) and pulmonary trunk length 2 (PTL 2) = distance between left and right pulmonary valve level and origin of left and right pulmonary artery, respectively. All measurements of the AoL were significantly shorter in TGA compared to normal hearts (AoL-1: 1.6±0.2 versus 2.05±0.1; P<0.0001; AoL-2: 1.55±0.2 versus 2.13±0.1; P<0.0001). With regard to the pulmonary trunk (PT), PTL-1 and PTL-2 were found to be shorter and longer, respectively, in TGA compared with normal hearts, reflecting the differences in the spatial arrangement of the PT between the 2 groups as in TGA the PT is showing a mirror image of the normal anatomy. However, the overall length of the PT between the 2 groups did not differ. Conclusions Our data demonstrate that, compared with normal newborns, the ascending aorta is significantly shorter in newborns with TGA whereas the overall length of the PT does not differ between the 2 groups. This finding is in accord with the animal model-based hypothesis that TGA may result from a growth deficit at the arterial pole of the embryonic heart.

Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease.

Congenital heart defects (CHDs) are the most common types of birth defects, and global incidence of CHDs is on the rise. Despite the prevalence of CHDs, the genetic determinants of the defects are still in the process of being identified. Herein, we report a consanguineous Saudi family with three CHD affected daughters. We used whole exome sequencing (WES) to investigate the genetic cause of CHDs in the affected daughters. We found that all affected individuals were homozygous for a novel splice-altering variant (NM_001330069.1: c.265-1G>T) of PRKD1, which encodes a calcium/calmodulin-dependent protein kinase in the heart. The homozygous variant was found in the affected patients with Pulmonary Stenosis (PS), Truncus Arteriosis (TA), and Atrial Septal Defect (ASD). Based on the family's pedigree, the variant acts in an autosomal recessive manner, which makes it the second autosomal recessive variant of PRKD1 to be identified with a link to CHDs, while all other previously described variants act dominantly. Interestingly, the father of the affected daughters was also homozygous for the variant, though he was asymptomatic of CHDs himself. Since both of his sisters had CHDs as well, this raises the possibility that the novel PRKD1 variant may undergo autosomal recessive inheritance mode with gender limitation. This finding confirms that CHD can be associated with both dominant and recessive mutations of the PRKD1 gene, and it provides a new insight to genotype-phenotype association between PRKD1 and CHDs. To our knowledge, this is the first report of this specific PRKD1 mutation associated with CHDs.

Bronchogenic cyst presenting with respiratory distress in a neonate.

Bronchogenic cysts are considered rare airway anomalies that can have a significant impact on the well-being of infants. In this case report, we present a rare presentation of bronchogenic cyst presenting with early neonatal respiratory distress due to airway and vascular compression. Surgical excision was curative with an excellent prognosis.

Pulmonary arteriovenous malformations in children after the Kawashima procedure: Risk factors and midterm outcome.

BACKGROUND: Pulmonary arteriovenous malformations (PAVMs) are the major cause of progressive cyanosis in patients palliated with bidirectional cavopulmonary connection (BCPC). The aim of our study is to analyze the occurrence of PAVMs in patients after Kawashima procedure, to study the effect of total cavopulmonary connection (TCPC) on PAVMs, to evaluate the effect of axillary arteriovenous fistula (AAVF) creation on PAVMs, and to study the risk factors for PAVMs. METHODS: In this retrospective cohort study, all patients with left isomerism and azygous continuation of an interrupted inferior vena cava who underwent Kawashima procedure from July 2001 to December 2017 were included. RESULTS: Twenty.six patients after Kawashima procedure were included in our study. PAVMs were diagnosed in 12 patients (46%). Five of these 12 patients underwent TCPC with complete resolution of hypoxemia. Three patients underwent AAVF creation, 2 had complete resolution, while 1 had partial resolution of hypoxemia. Fourteen patients (54%) did not develop PAVMs. Nakata index below 267 mm2/m2and McGoon ratio below 1.9 predicted the development of PAVMs with high sensitivity and specificity. CONCLUSIONS: PAVMs represent a serious complication in patients who undergo Kawashima procedure. Small size of pulmonary arteries is an important risk factor for the development of PAVMs. Resolution of hypoxemia after TCPC completion supports the hepatic factor hypothesis. Early TCPC completion in these patients may help to avoid the development of PAVMs by restoring the hepatic factor. Resolution of hypoxemia after AAVF creation may support the lack of pulsatile flow hypothesis.

Palivizumab prophylaxis against respiratory syncytial virus infection in patients younger than 2 years of age with congenital heart disease.

BACKGROUND: Respiratory syncytial virus (RSV) is a viral pathogen that causes annual epidemics of lower respiratory tract infection with substantial morbidity and mortality in young children, especially those with congenital heart disease (CHD). Palivizumab is the only immunoprophylaxis therapy approved for RSV infection in infants with hemodynamically significant acyanotic or cyanotic CHD. OBJECTIVE: Identify the compliance rate with vaccination and study the effect of RSV vaccination on hospital admissions. DESIGN: Retrospective descriptive study. SETTING: Cardiac center. PATIENTS AND METHODS: Patient data was obtained from outpatient clinic records, inpatient records, and a surgical database for the period from October 2010 to March 2016. Infants with hemodynamically significant CHD, cyanotic CHD and moderate-to-severe pulmonary hypertension were included in the study. Palivizumab 15/mg/kg was given monthly starting from October, the usual beginning of the epidemic season, with five doses in the first season and six doses in the remaining season scheduled for administration. Patients were interviewed at every clinic visit for any side effects during the previous month, occurrence of any RSV infection and any hospital admission. Selection criteria included RSV vaccination and absence of RSV disease. Patients were excluded if they had RSV infection or a repaired cardiac lesion. MAIN OUTCOME MEASURES: Compliance rate, hospital admission frequency and period of stay. SAMPLE SIZE: 530 during six seasons of RSV epidemics. RESULTS: Fourteen patients (2.6%) developed RSV infection and 13 (2.5%) required hospital admission, but only one patient (0.1%) needed intensive care admission. There were no deaths related to RSV infection; however 11 patients died due to causes unrelated to RSV infection. The average compliance rate was 97%. CONCLUSION: Palivizumab was well tolerated and effective in the prophylaxis of severe RSV infection in children with CHD. As in other studies of palivizumab prophylaxis, we observed a reduction in hospital admissions. LIMITATIONS: Retrospective design. CONFLICT OF INTEREST: None.

Stent or Shunt, What Could be Better for Children with Duct Dependent Pulmonary Circulation?

BACKGROUND: Systemic to pulmonary shunt (Shunt) is offered for children with duct dependent pulmonary circulation to augment pulmonary flow. Recently patent ductus arteriosus (PDA) stent (Stent) is widely used as an alternative method. We aimed to compare post intervention outcomes in children underwent either procedure. METHODS: Infants under 3 months who had an initial palliation by Shunt or Stent were retrospectively reviewed between 2008 and 2016, then followed till the second intervention or 1 year whichever earlier. RESULTS: 187 patients (110 Shunt and 77 Stent) were included. Initial weight and pulmonary artery (PA) branches size were similar between the groups. Shunt patients had more shock preoperatively and required more emergency intervention. Stent group showed less ICU stay 4 (1-8) vs 13 (7-23) days, p < 0.0001 and less positive pressure ventilation days 1 (0-2) vs 5.5 (3-11), p < 0.0001. However, Stent group had more symptomatic arterial and deep venous thromboses. In Stent patients the branch PAs growth was better and more homogeneous. At follow-up, no difference between groups regarding cumulative readmission days to hospital, hemoglobin levels and the weight percentile for age. Mortality was not different with a tendency to be higher in the Shunt group (13%) compared to the Stent group (5%), p 0.1. CONCLUSIONS: The implantation of PDA stent in patients with duct dependent pulmonary circulation results in a smoother ICU course and a shorter hospital stay, with higher risk of vascular injury. Shunt and Stent procedures have a good outcome for PA growth, somatic growth and survival.

Aorto-left ventricular tunnel: case series of a rare disease.

INTRODUCTION: Aorto-left ventricular tunnel is a rare disease that can cause significant morbidity early in life due to volume overload and left ventricular failure. Surgical intervention is usually curative with minimal early complications. However, long-term effects and outcome are not fully determined. OBJECTIVE: We are reporting a case series of this rare CHD with its long-term outcome. METHODS: We conducted a retrospective analysis of all children from birth to 14 years of age who were admitted between 2001 and 2020 with the diagnosis of aorto-left ventricular tunnel. Demographic, echocardiographic, and perioperative data were collected and reviewed. The pre-operative data were compared with data reviewed on the last outpatient follow-up. RESULTS: Total of five patients fulfilled our inclusion criteria. Three patients were diagnosed after auscultating an incidental murmur, one had symptoms of congestive heart failure, and one had an abnormal fetal echocardiogram. Echocardiography demonstrated stenotic and regurgitant aortic valve with severely depressed left ventricle function in two patients, one of them with also single left coronary artery. The other three patients had normal aortic valve structure and normal ventricular function. All five patients had surgical repair, two by patch closure at aortic end of aorto-left ventricular tunnel, two by patch closure at both aortic and left ventricular ends, and one by aortic root replacement using a homograft. During follow-up, there was no residual aorto-left ventricular tunnel in any of our five cases, two had moderate aortic regurgitation and one had moderate residual aortic stenosis. CONCLUSIONS: Spectrum of presentation for aorto-left ventricular tunnel varies from an occult lesion to frank left heart failure due to volume or less commonly, pressure overload. Early surgical repair is recommended and is usually associated with complete resolution. Long-term follow-up is recommended for aortic root dilatation and aortic valve competency, as valve function need to be addressed in a timely manner to avoid further complications.

Aortopulmonary window: Types, associated cardiovascular anomalies, and surgical outcome. Retrospective analysis of a single center experience.

OBJECTIVE: Aortopulmonary window (APW) is a rare congenital heart defect. It occurs as an isolated cardiac lesion or in association with other cardiac anomalies and rarely with abnormal coronary arteries. The spectrum of cardiovascular anomalies associated with APW and overall management and outcome in the current era were reviewed. METHODS: Between 2001 and 2018, all patients diagnosed with APW were included. Based on associated cardiovascular anomalies, those patients were divided into 2 groups: simple APW group and complex APW group (APW with associated other cardiovascular anomalies). All cases were followed longitudinally. The outcomes are described. RESULT: Twenty patients underwent APW repair including 2 (10%) in simple APW group and 18 (90%) in complex APW group. Their mean age and weight were 4.8 ± 1.8 months and 4 ± 0.4 kg, respectively. APW Type I was confirmed in 65% followed by Type III in 20% and then Type II in 15% of the patients. In the complex APW group, atrial septal defect was the commonest associated cardiac lesion occurring in 8/20 (40%), followed by ventricular septal defect, interrupted aortic arch, and pulmonary artery anomalies in 25% of each. The presence of patent ductus arteriosus (PDA) was found in 40% of APW cases with 2/3rd of them in association with interrupted aortic arch. Two patients (10%) had unusual coronary anomalies that required repair, both with APW Type I. Associated non-cardiac anomalies were found in 30% of cases. Risk Adjustment for Congenital Heart Surgery (RACHS-1) score frequencies were between 2 and 4. Only one patient had reactive pulmonary hypertension related to chronic lung disease. All patients underwent surgical correction with median age of 2 month at the time of repair (interquartile range, 2 weeks to 4.5 months). Mean duration of mechanical ventilation, pediatric cardiac ICU and hospital length of stay were 2.8 ± 0.5, 9 ± 3 and 26 ± 6 days, respectively. All patients survived with no residual APW with mean follow-up duration of 4.5 years. CONCLUSION: Majority of APW are associated with other cardiovascular anomalies (90%) including coronary abnormalities (10%). Early surgical repair of APW and associated lesions showed excellent survival rate, freedom from re-intervention need within an average of 4.5 years of follow up and no evidence of persistent pulmonary hypertension post repair.

Risk factors for transposition of the great arteries in Saudi population.

OBJECTIVES: To assess potential risk factors and their effect on the development of transposition of the great arteries (TGA). Methods: A retrospective case-control study of all patients diagnosed with TGA between 1999 to 2016 at King Abdulaziz Medical City, Riyadh, Saudi Arabia. Age and gender-matched controls were selected. Risk factors, including consanguinity, gestational diabetes, family history of congenital heart disease, parental age, and maternal parity, were collected. Regression modeling was used to analyze the effects of risk factors on the development of TGA. Results: A total of 206 patients with transposition of the great arteries were enrolled in the study. Transposition of the great arteries  cases were divided into simple and complex TGA. Selected healthy controls were 446. In the studied cases, consanguinity was found in 95 (46%) of cases, gestational diabetes was diagnosed in 36 (17.5%) mothers, and 35 (17%) had a confirmed family history of congenital heart disease. When risk factors of the cases were compared to the controls, consanguinity, gestational diabetes, maternal age, and parity were found to significantly increase the incidence of TGA. Conclusion: Our study revealed significant risk factors for the development of transposition of great arteries including first degree consanguineous marriages, gestational diabetes, family history of congenital cardiac anomalies, and increasing maternal age and parity. These factors increased the risk by at least 2 folds.

ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.

Recently, ADAMTS19 was identified as a novel causative gene for autosomal recessive heart valve disease (HVD), affecting mainly the aortic and pulmonary valves. Exome sequencing and data repository (CentoMD) analyses were performed to identify patients with ADAMTS19 variants (two families). A third family was recognized based on cardiac phenotypic similarities and SNP array homozygosity. Three novel loss of function (LoF) variants were identified in six patients from three families. Clinically, all patients presented anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. Three patients had (recurrent) subaortic membrane, suggesting that ADAMTS19 is the first gene identified related to discrete subaortic stenosis. One case presented a bi-commissural pulmonary valve. All patients displayed some degree of atrioventricular valve insufficiency. Other cardiac anomalies included atrial/ventricular septal defects, persistent ductus arteriosus, and mild dilated ascending aorta. Our findings confirm that biallelic LoF variants in ADAMTS19 are causative of a specific and recognizable cardiac phenotype. We recommend considering ADAMTS19 genetic testing in all patients with multiple semilunar valve abnormalities, particularly in the presence of subaortic membrane. ADAMTS19 screening in patients with semilunar valve abnormalities is needed to estimate the frequency of the HVD related phenotype, which might be not so rare.

Infective endocarditis in children with normal heart: Indication for surgical intervention.

Although infective endocarditis is an uncommon condition, it can be fatal if not treated. The new era of infective endocarditis in children with structurally normal heart has become apparent entity. Duke criteria has been established for a long time and gives clear guidelines for diagnosis; however, surgical indication in pediatric population needs to be tailored to individual patients.

Cardiac recovery and outcome of neonates and infants presenting with severe aortic coarctation and depressed cardiac function.

OBJECTIVES: Coarctation of the aorta represents 5-8% of all congenital heart diseases. Children with severe coarctation of the aorta may present with significant depression of myocardial function. The aim of this study is to identify short and midterm outcomes of neonates and infants with isolated coarctation of the aorta and depressed left ventricular systolic function with regard to recovery of their cardiac function. METHODS: All patients with isolated coarctation of the aorta who underwent surgical repair between December 2002 and December 2015 were retrospectively reviewed in a cohort study. The patients were divided into 2 groups: (1) Patients with depressed left ventricle systolic function who were found to have an ejection fraction and fractional shortening less than 55% and 25%, respectively, (2) Patients with coarctation of the aorta and normal left ventricle systolic function (Control Group). We reviewed both groups after surgery and compared them in terms of their cardiac function recovery. RESULTS: 58 patients were included. 25 patients (43%) depressed left ventricle systolic function group, 33 patients (57%) Control Group. There were statistically significant differences in ejection fraction and fractional shortening (p < 0.0001) between the two groups before surgery. Follow-up demonstrated improvement and recovery of ventricular function in most of the patients, six months after surgery there was no more statistical difference between the groups in terms of cardiac function. CONCLUSION: Majority of the patients with isolated coarctation of the aorta and depressed left ventricle systolic function showed improvement of ventricular function within 4 weeks after surgery, except for patients with residual coarctation of the aorta.

Growth of left ventricular outflow tract and predictors of future re-intervention after repair for ventricular septal defect and aortic arch obstruction.

Ventricular septal defect and aortic arch obstruction are usually associated with a narrow left ventricular outflow tract. The aim of the present study was to analyse the growth and predictors of future obstruction of the left ventricular outflow tract after surgical repair. METHODS: We carried out a retrospective review of patients who underwent repair for ventricular septal defect and aortic arch obstruction - coarctation or interrupted aortic arch - between July, 2002 and June, 2013. Echocardiographic data were reviewed, and the need for re-intervention was evaluated. RESULTS: A total of 89 patients were included in this study. A significant left ventricular outflow tract growth was noticed after surgical repair. Preoperatively, the mean left ventricular outflow tract Z-score was -1.46±1 (range -5.5 to 1.1) and increased to a mean value of -0.7±1.3 (range -2.7 to 3.2) at last follow-up (p=0.0001), demonstrating relevant growth of the left ventricular outflow tract after repair for ventricular septal defect and aortic arch obstruction. After primary repair, 11 patients (12.3%) required re-intervention with surgical repair for left ventricular outflow tract obstruction after a mean period of 36±21 months. There were no significant differences in age, weight, and indexed aortic valve and left ventricular outflow tract measurements between those who developed obstruction and those who did not. CONCLUSION: Significant left ventricular outflow tract growth is expected after repair of ventricular septal defect and aortic arch obstruction. Small aortic valve and left ventricular outflow tract at diagnosis are not risk factors to predict the need for surgical re-intervention for left ventricular outflow tract obstruction in future.

Do We Need More Than a Transthoracic Echocardiography When Evaluating Children with Congenital Heart Disease before Cardiac Surgery?

AIM: To determine if a transthoracic echocardiography (TTE) can be used as the sole diagnostic imaging modality to evaluate children with congenital heart disease (CHD) undergoing cardiac surgery. METHODS: A retrospective study was carried out at the King Abdulaziz Cardiac Center. We reviewed all pediatric patients who underwent cardiac surgery during the period January 2011 to December 2011. RESULTS: Three hundred ninety-two pediatric patients with CHD fulfilled the inclusion criteria. Of these patients, 287 (73%) underwent surgical interventions based on a TTE alone, while 105 (27%) required additional diagnostic imaging modalities, including a cardiac catheterization (68/105; 65%), cardiac computed tomography angiography (36/105; 34%), or cardiac magnetic resonance imaging (1/105; 1%). A TTE was not enough for all the patients who underwent a cardiac catheterization to find out additional anatomical information (22%), either to directly measure pulmonary artery pressures (62%) or to study vascular reactivity in patients with pulmonary hypertension (16%). Of 36 patients who underwent a cardiac computed tomography angiography, five (14%) had additional information to be added to TTE findings. Of all the patients, 81% had enough information using only the TTE compared to 19% in whom the TTE was not enough to provide all needed information. Only (7/392; 1.8%) patients had additional minor intraoperative findings that did not affect the surgical decision. CONCLUSION: Despite the emergence of other imaging modalities, a TTE can be used as the sole diagnostic imaging modality for a preoperative assessment in the majority of children with CHD. Other imaging modalities can be employed with limited indications.

An innovative method of pediatric chest wall reconstruction using Surgisis and swinging rib technique.

PURPOSE: Herein, we describe a new surgical approach for chest wall reconstruction using a native supporting rib and Surgisis. METHODS: A retrospective review of 3 cases from 2 tertiary pediatric health care centers presenting with chest wall defects in the neonatal period was performed. Perioperative data were collected. RESULTS: Two chest wall deformities were diagnosed at birth (Poland syndrome and cleft sternum). One patient was diagnosed prenatally with a mediastinal mass. The first infant had absent ribs 2 through 9. He underwent chest wall reconstruction at 4 weeks of life because of difficulty weaning from ventilation related to paradoxical breathing. The hamartoma of the second asymptomatic patient was removed at 6 weeks. The third patient's V-shaped sternal defect encompassed through the upper two thirds of the sternum and was repaired at 6 months of age with intraoperative transesophageal echocardiogram monitoring. In all cases, Surgisis (collagen matrix) was used as an onlay patch. In 2 cases, a swinging rib acted supportive. Neither patient had intraoperative complications. CONCLUSION: Surgisis is useful in pediatric chest wall reconstruction, particularly in combination with swinging ribs. The capacity for adaptation to the child's growth of this approach is crucial. Short-term safety is shown, but long-term assessment is required.