Ellis-Van-Creveld Syndrome and Congenital Cardiac Anomaly: Common Atrium with Atrioventricular Canal Septal Defect

Background: Children presenting with physical features of chondro-ectodermal dysplasia (Ellis-Van Creveld syndrome) such as skeletal and joint abnormalities often have concomitant congenital cardiac anomalies. Presence of cardiorespiratory symptoms in children with Ellis-Van Craved syndrome warrants a thorough cardiologic evaluation to recognize and treat underlying congenital heart anomaly. Aim: A child with physical stigmata of Ellis-Van-Creveld syndrome is evaluated to detect an associated congenital cardiac anomaly and accomplish successful repair of the underlying cardiac lesion to reduce the cardiac related morbidity and improve the patient survival. Case Presentation: Ten years old boy with chondroectodermal dysplasia (dental anomalies, genu valgum and other skeletal abnormalities) presented with dyspnea and cyanosis. Cardiac evaluation by 2D echo revealed an atrioventricular (AV) canal septal defect with AV valve regurgitation and a common atrium. Angiocardiography showed a goose neck deformity of the left ventricular outflow tract. The Qp/Qs was 3.4: 1, with systemic arterial oxygen desaturation (SaO2 of 0.7) and O2 saturation in the common atrium was 0.7. The pulmonary venous connections to the common atrium were anomalous. Atriotomy on cardiopulmonary bypass and on a cardioplegic arrest discerned a partial AV canal septal defect with a common bridging leaflet, clefts in septal leaflets of tricuspid and mitral vlalves, an incompletely closed interventricular communication, and a common atrium with highly anomalous pulmonary venous insertions well anterior (8 cm) to vena caval orifices. Intracardiac repair was performed with two patches of Goertex to partition the common atrium into the pulmonary and systemic venous chambers after repair of the partial AV canal septal defect. Patient required only a temporary afterload reduction with enalapril;otherwise patient had an uneventful postoperative course. At a 2-year follow-up, the child was well without AV valve regurgitation and had normal biventricular function. Conclusion: A child with Ellis-Van-Creveld syndrome with skeletal abnormalities and dental anomalies had manifested with cardio-respiratory symptoms. Preoperative cardiac and intraoperative evaluation showed a common atrium with severely anomalous pulmonary venous connection and partial AV canal septal defect. Successful biventricular repair was accomplished by repairing the partial AV canal septal defect and partitioning the common atrium into left and right atrium by a complex atrial routing technique with two patches of Gore-Tex. On a follow-up at 2 years, the patient had adequate biventricular function without AV valve regurgitation. 114264

Enigmatic thymus: Variations in anatomical localisation of thymic tissue as an easily misdiagnosed congenital anomaly in surgical practice

We point out the issue of differential diagnosis regarding the finding of ectopically localised thymic tissue(a thymic cyst)in the neck.Thymic tissue can be found anywhere along its developmental tract of descent,from the angle of the mandible to the upper mediastinum.Disruption of the thymic descent can result in ectopically/abnormally localised islets of accessory thymic tissue,which may undergo cystic changes,as described in a case report by Sun et al.This anatomical variation of the thymus may be clinically misinterpreted as a neoplasm or other congenital anomalies as a branchial cyst,lymphatic malformation or cystic hygroma.The present editorial focuses on the challenge of establishing a diagnosis of ectopically localised tissue of thymus often presented as a lateral cervical mass,especially in the case of cystic variation/degeneration of this thymic tissue.We summarise hypotheses on the origin of such congenital cervical thymic cysts from the point of view of evolutionary history and embryology.We also discuss lesser-known facts about the anatomy,histopathology and developmental biology of the thymus as one of the most enigmatic organs in the human body.

Cardiac Malformations in Congenital Hypothyroidism: A Case Report

Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.

Effect of Exercise-Based Cardiac Rehabilitation on Cardiorespiratory Fitness in Adults with Congenital Heart Disease

Background:The purpose of this study was to investigate whether patients with adult congenital heart disease(ACHD)benefit from exercise-based cardiac rehabilitation(CR)short-and long-term with regard to improvement of cardiorespiratory fitness.Methods:Cardiopulmonary exercise tests(CPET)completed by ACHD patients between January 2000 and October 2019 were analysed retrospectively.Linear mixed models were performed for peak oxygen consumption(VO_(2))with patients as random effect and age,sex,disease classification,preceding surgery(≤3 months)and preceding CR(≤4 weeks for short term and>4 weeks for long term)as fixed effects.Results:1056 CPETs of 311 ACHD patients with simple(7),moderate(188)or great(116)complexity heart defects were analysed.The 59 patients who completed a CR(median age 27 yrs,38%females)increased peak VO_(2)from before to after CR by a median of 2.7(IQR–0.6 to 5.5)ml/kg/min.However,in the multivariate mixed model,peak VO_(2)was non-significantly increased short-term after CR(β0.8,95%CI–0.7 to 2.4),not maintained long-term after CR(β0.0,95%CI–1.7 to 1.6)but significantly reduced after surgery(β–5.1,95%CI–7.1 to–3.1).The 20 CR patients after surgery increased their peak VO_(2)by 6.2(IQR 3.6–9.5)ml/kg/min,while the 39 CR patients without preceding surgery increased it by 0.9(IQR–1.5 to 3.1)ml/kg/min.Conclusions:The increase in peak VO_(2)with CR was mainly due to recovery from surgical intervention.The small independent benefit from CR was not maintained long-term,highlighting the potential to improve current CR concepts in ACHD populations.

Early Cardiac Catheterizations within 30 Days Post Congenital Heart Surgery in Children

Background:This study set out to assess the indications,feasibility,safety,and outcome of early cardiac catheterizations(CC)within 30 days after congenital heart surgery(CHS)in children.Methods and Results:This is a retrospective,single-center case review study of all CC within 30 days after CHS between 1/2010-12/2020.A total of 317(138 diagnostic,179 interventional)CC were performed in 245 patients at a median of 4 days(IQR 13)after CHS.The median age was 3 months(IQR 6),and body weight was 5 kg(IQR 4).A total of 194(61.2%)CC were performed in patients with univentricular hearts.CC revealed significant pathologies leading to early redo-surgery in 37 patients(12%).The transcatheter interventions primarily were needed in patients after cavo-pulmonary connection(n=69%,21.8%),right ventricle to pulmonary artery conduit(n=39%,12.3%),and Norwood-I surgery(n=34%,10.7%)presenting with hypoxemia,prolonged postoperative course,and suspected arterial stenosis on echocardiography.The clinical impact of an early postoperative transcatheter intervention for the following clinical course was high in most cases.There were nine(2.8%)major and 20(6.3%)minor intra-procedural complications.Risk factor analysis revealed no difference for the occurrence of complications for patients’age,weight,and time from initial CHS,underlying uni-vs.biventricular heart disease,or ECMO.Conclusion:Early CC within 30 days after CHS in children can be performed safely with a high diagnostic and therapeutic value.The rate of complications is low,while the therapeutic consequence is relevant.

Do Patients with Asymptomatic Congenital Complete Heart Block Require a Pacemaker for Non-Cardiac Surgery?

The appropriate preparation of the patient with asymptomatic congenital complete heart block (CCHB) and a narrow QRS complex for elective non-cardiac surgery is controversial. Prophylactic temporary pacemaker insertion is associated with well-defined risks, and less invasive techniques exist to treat transient, hemodynamically significant intraoperative brady-arrhythmias. The present case report details the performance of general anesthesia for arthroscopic knee surgery in an adult patient with this condition without a pacemaker. Documentation of preoperative chronotropic competence with isoproterenol may be of value in deciding whether to proceed without temporary pacing capability in this setting.

Femoral Access with Ultrasound-Guided Puncture and Z-Stitch Hemostasis for Adults with Congenital Heart Diseases Undergoing Electrophysiological Procedures

Aims:Although the application of ultrasound-guided vascular puncture and Z-stitch hemostasis to manage femoral access has been widely utilized,there is limited data on this combined application in adult congenital heart disease(ACHD)patients undergoing electrophysiological(EP)procedures.We sought to evaluate the safety and efficacy of ultrasound-guided puncture and postprocedural Z-stitch hemostasis for ACHD patients under-going EP procedures.Methods and Results:The population of ACHD patients undergoing transfemoral EP pro-cedures at the University of Zurich Heart Center between January 2019 and December 2022 was observed and analyzed.During the study period,femoral access(left/right,arterial/venous)was performed under real-time ultrasound guidance.At the end of the procedure,a single Z-stitch was performed at the puncture site.We eval-uated the incidence of in-hospital complications associated with femoral access puncture in this population.Among 101 patients who had a total of 147 previous ipsilateral vascular punctures(mean 1.5 per person),100 patients underwent successful femoral vascular access for EP procedures.The median age of the patients was 47±15 years and 34(34%)were male.Z-stitches were performed after the procedure in 100 patients with 303 femoral vascular accesses(mean 3 punctures per person).No patient developed vascular puncture relevant inguinal hematoma,pseudo aneurysm,arteriovenousfistula,venous or arterial thrombosis.Conclusion:In ACHD patients undergoing EP procedures,optimal femoral access management can be achieved with ultra-sound-guided puncture and postprocedural Z-stitch hemostasis.

Temporal and Regional Differences in Congenital Heart Surgery in China(2017-2022):Trends and Implications

Background:With the decline of birth population and the development of medical technology in China,studies assessing how these changes have affected the adoption of congenital heart disease surgery at the national or regional scale are lacking.Methods:We investigated the status of congenital heart surgery in China in the period from 2017-2022,through investigation of the total rates of cardiac surgeries,cardiopulmonary bypass(CPB),adult congenital heart surgeries(CHS),and pediatric CHS(<18 years old),as recorded by the Extracorporeal Cir-culation Branch of the Chinese Society of Biomedical Engineering.Subsequently,we evaluated correlations between these factors with economic,demographic,and other factors.Results:From 2017 to 2022,the total num-ber of cardiac operations increased from 230,772 to 263,292,representing an increase of 14.09%over 6 years;the CHS dropped from 76,365 to 68,940(10.19%decrease),and the proportion of CHS in the total cardiac surgeries dropped from 33.26%to 26.18%(7.08%decrease).Finally,cases of pediatric CHS decreased from 61,825 to 38,174(38.25%decrease).The annual percentage change(APC)of the total amount of pediatric CHS cases was-10.03(-15.95 to-3.69,p=0.013).Adult CHS increased from 14,940 to 30,766(105.93%increase).The proportion of adult CHS cases of the total number of cardiac surgeries increased from 6.47%to 11.68%(5.21%increase).From a regional perspective,the APC for the proportion of pediatric CHS in the local population was generally lower in western China.The proportion of CHS in the local population generally decreases from the north to the south,although the lowest incidence is found in the northeast region.Conclusions:Due to demographic changes,med-ical technology and economic factors,the number of surgical operations for congenital heart disease(CHD)in children decreased significantly from 2017 to 2022,and may decline further in the future.Nevertheless,in the same period,a significant increase in the number of operations for CHD in adults was observed,which brings new opportunities and challenges to the development of congenital cardiac surgery and cardiac critical care.

Optimal timing for plastic surgical procedures for common congenital anomalies:A review

Apart from listening to the cry of a healthy newborn,it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents.The global incidence of children born with congenital anomalies has been reported to be 3%-6%with more than 90%of these occurring in low-and middle-income group countries.The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons.These children are operated under several surgical disciplines,viz,paediatric-,plastic reconstructive,neuro-,cardiothoracic-,orthopaedic surgery etc.These conditions may be life-threatening,e.g.,trachea-oesophageal fistula,critical pulmonary stenosis,etc.and require immediate surgical intervention.Some,e.g.,hydrocephalus,may need intervention as soon as the patient is fit for surgery.Some,e.g.,patent ductus arteriosus need‘wait and watch’policy up to a certain age in the hope of spontaneous recovery.Another extremely important category is that of patients where the operative intervention is done based on their age.Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery(many as multiple stages of correction)at appropriate ages.There are advantages and disadvantages of intervention at different ages.In this article,we present a review of optimal timings,along with reasoning,for surgery of many of the common congenital anomalies which are treated by plastic surgeons.Obstetricians,paediatricians and general practitioners/family physicians,who most often are the first ones to come across such children,must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.

Morphological Features of Complex Congenital Cardiovascular Anomalies in Fetuses:as Evaluated by Cast Models

Accurate prenatal diagnosis of complex congenital cardiovascular anomalies, vascular ones in particular, is still challenging. A fetal cardiovascular cast model can provide a copy of the cardiac chambers and great vessels with normal or pathological structures. This study was aimed to demonstrate three-dimensional anatomy of complex congenital cardiovascular anomalies in fetuses by means of corrosion casting. Twenty fetuses with prenatal-ultrasound-diagnosed complex cardiovascular anomalies were enrolled in this study（19 to 35 gestational weeks）. Fetal cardiovascular cast models were made by a corrosion casting technique. The specimens were injected with casting material via the umbilical vein, and then immersed in strong acid after casting fluid was solidified, to disclose the geometries of cardiovascular cavities. Nineteen cast models were successfully made from 20 specimens. The casts distinctly showed the morphological malformations and spatial relationship between cardiac chambers and great vessels. One hundred and eleven abnormalities were revealed by casting in the 19 specimens, including 34 abnormalities located in the cardiac chambers（3, 4 and 27 anomalies in the atria, atrioventricular valves and ventricles, respectively）, and 77 in the great vessels（28, 20, 24 and 5 anomalies in the aorta and its branches, the pulmonary artery, the ductus arteriosus and the major veins, respectively）. Corrosion casting can display three-dimensional anatomy of fetal complex cardiovascular anomalies. This improves our understanding of related pathomorphology and prenatal diagnosis.

Evaluation of Post-Operative Atrial Fibrillation after Cardiac Surgery for Adult Congenital Heart Disease

Background:Post-operative atrial fibrillation(POAF)frequently occurs after cardiac surgery.Although adult congenital heart disease(ACHD)patients have higher rates of arrhythmia than the general population,there is scant literature on POAF in ACHD patients.Objectives:Identify key risk factors associated with post-operative atrial fibrillation and evaluate the short-and mid-term significance of developing POAF.Methods:A retrospective cohort study was conducted of ACHD patients from 2013–2021 at the University of Colorado Hospital and Children’s Hospital of Colorado.The institutional Society of Thoracic Surgeons(STS)surgical registry was used to identify patients≥18-year-old with congenital heart disease who underwent cardiac surgery during the study period.Results:A total of 168 patients(48%female)were included.The median age was 36 years(IQR 28–48).Onehundred and fifty patients(90%)had moderate ACHD anatomical complexity,and 10 patients(6%)had severe ACHD anatomical complexity based on initial ACHD diagnosis.POAF occurred in 40(24%)patients.Older age,history of supraventricular tachycardia,intra-operative arrhythmia,and post-operative hypokalemia independently predicted POAF.POAF was associated with an increased length of stay(8 vs.5 days,p<0.001)and recurrence of atrial fibrillation(46%vs.21%,OR 3.35,p=0.002)but did not predict mortality,stroke,or bleeding event.Conclusion:Atrial fibrillation is a common complication after cardiac surgery in the ACHD population.Older age,history of supraventricular tachycardia,intra-operative arrhythmia,and post-operative hypokalemia independently predicted POAF.Further investigation is needed to understand the long-term impacts of POAF.

Cardiopulmonary Response to Exercise at High Altitude in Adolescents with Congenital Heart Disease

Objective:To extend our knowledge on tolerance of acute high-altitude exposure and hemodynamic response to exercise in adolescents with congenital heart disease(AscCHD)without meaningful clinical or functional restriction.Methods:A symptom limited cardiopulmonary exercise stress test and a non-invasive cardiac output measurement during steady state exercise were performed at 540 m and at 3454 m a.s.l.Symptoms of acute mountain sickness were noted.Results:We recruited 21 healthy controls and 16 AscCHD(59%male,mean age 14.7±1.1 years).Three subjects(2 controls,1 AscCHD)presented light symptoms of acute mountain sickness(dizziness and headache).During the symptom limited exercise test at lowland,control subjects showed a significantly higher power to weight index(3.5±0.6 W/kg vs.3.0±0.7 W/kg,p<0.001),heart rate(188.8±10.41/min vs.179.4±13.11/min,p<0.050)and ventilation(92.8±22.9 l/min vs.75.4±18.6 l/min,<0.050).At altitude,power to weight index only remained significantly higher in the control group(2.8±0.6 W/kg vs.2.6±0.6 W/kg,p<0.001).Pulmonary blood flow(PBF)at lowland showed no difference between the control and the AscCHD group,neither at rest(5.4±0.8 l/min vs.5.1±0.9 l/min,p=0.308),nor during the steady state test(10.6±2.4 l/min vs.10.5±2.0 l/min,p=0.825).At high altitude,PBF increased by 110%and 112%,respectively(12.8±2.32 l/min vs.12.5±3.0 l/min;intergroup difference:p=0.986).Conclusions:High altitude exposure was well tolerated in an unselected group of AscCHD.No significant difference in the cardio-pulmonary adaptation to a control group was noted during a steady state exercise.Symptoms of minor acute mountain sickness did occur,which should however not be misinterpreted as signs of hemodynamic maladaptation.

Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling

The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician's ability to counsel expectant parents prenatally.

Coronary artery disease in congenital single coronary artery in adults:A Dutch case series

AIM:To assess the current diagnostic and therapeutic management and the clinical implications of congenital single coronary artery(SCA) in adults.METHODS:We identified 15 patients with a SCA detected from four Dutch angiography centers in the period between 2010 and 2013.Symptomatic patients who underwent routine diagnostic coronary angiography(CAG) for suspected coronary artery disease and who incidentally were found to have isolated SCA were analyzed.RESULTS:Fifteen(7 females) with a mean age of 58.5 ± 13.78 years(range 43-86) had a SCA.ConventionalCAG demonstrated congenital isolated SCA originating as a single ostium from the right sinus of Valsalva in 6 patients and originating from the left in 9 patients.Minimal to moderate coronary atherosclerotic changes were found in 4,and severe stenotic lesions in another 4 patients.Seven patients were free of coronary atherosclerosis.Runs of non-sustained ventricular tachycardia were documented in 2 patients,one of whom demonstrated transmural ischemic changes on presentation.Myocardial perfusion scintigraphic evidence of transmural myocardial ischemia was found in 1 patient due to kinking and squeezing of the SCA with an interarterial course between the aorta and pulmonary artery.Multi-slice computed tomography(MSCT) was helpful to delineate the course of the anomalous artery relative to the aorta and pulmonary artery.Percutaneous coronary intervention was successfully performed in 3 patients.Eight patients were managed medically.Arterial bypass graft was performed in 4 patients with the squeezed SCA.CONCLUSION:SCA may be associated with transient transmural myocardial ischemia and aborted sudden death in the absence of coronary atherosclerosis.The availability and sophistication of MSCT facilitates the delineation of the course of a SCA.We present a Dutch case series and review of the literature.

Classification of facial nerve aberration in congenital malformation of middle ear:Implications for surgery of hearing restoration

Objectives: Facial nerve aberration is the most troublesome situation in congenital malformations of middle ear.The aim of our study is to investigate its imaging and clinical features as well as relevant choice of surgical techniques for hearing improvement.Methods: A retrospective study involving review of clinical data of 227 patients(256 ears) with congenital middle ear anomaly was undertaken, including preoperative computed tomography(CT) data, surgical records and videos.Results: Aberration involving intratemporal facial nerve was found in 82/256 ears(32.03%) with congenital middle ear anomaly. The most common forms of aberration included overhanging over the oval window(50/82 ears, 60.98%), bifurcation(3/82 ears, 3.66%) and transverse over the promontory(3/82 ears, 3.66%), counting for 68.29%(56/82) of the cases with facial nerve aberration. Concomitant stapes malformation was found in 76/82 ears(92.68%) and atresia or stenosis of the oval window in 27/82 ears(32.93%). In 9/82 ears(10.98%) both stapes and oval window was absent. Elective surgeries for the purpose of hearing improvement included stapodotomy + piston implantation, labyrinthotomy, labyrinthotomy + total ossicular replacement prosthesis(TORP) implantation and Vibrant Soundbridge(VSB) implantation.Conclusion: The majority of facial nerve aberration in congenital malformation of middle ear involves displacement of facial nerve, in addition to concomitant malformations of the stapes and/or oval window, which may influence the choice of surgery for hearing improvement. VSB implantation may be considered as a useful option.

Diagnosis of Congenital Aortic Arch Anomalies in Chinese Children by Multi-Detector Computed Tomography Angiography

Summary： The purpose of this study was to evaluate the value of multi-detector computed tomography （MDCT） angiography for the diagnosis of congenital aortic arch anomalies and present the radiological images of congenital aortic arch anomalies in Chinese children. MDCT angiography and transthoracic echocardiography （TTE） were applied for the diagnosis of congenital aortic arch anomalies in 362 Chi- nese children between May 2006 and December 2011 （age ranges from 5 days to 12 years; mean age, 3.3 years）. Surgery and/or catheter angiography （CA） were conducted in all patients to confirm the final diagnosis. In the 362 Chinese children with congenital heart anomalies, congenital aortic arch anomalies were definitely diagnosed in 198 children and 164 children ruled out by operation and/or （CA）. Among the 198 children with anomalies, coarctation of aorta （CoA）, interruption of aortic arch （IAA）, fight aor- tic arch, aberrant right subclavian artery and double aortic arch were diagnosed in 134, 32, 20, 10 and 2 children respectively, and there were 6 cases with uncommon congenital aortic arch anomalies： 2 had double aortic arch including 1 with five branches of the aortic arch, 2 had isolation of the right sub- clavian artery with two patent ductus arteriosus （PDA）, 1 had an isolation of the common carotid artery with a PDA, and 1 had double PDA with a single ventricle and pulmonary artery atresia. Among the 32 children with IAA, 28 were of type A, and 4 were of type B. The diagnostic sensitivity, specificity and accuracy of MDCT angiography for congenital aortic arch anomaiies were 100% （198/198）, 98% （161/164） and 99% （359/362）, respectively. The diagnostic sensitivity, specificity and accuracy of TTE were 92% （182/198）, 81% （133/164） and 87% （315/362）, respectively. In conclusion, MDCT angiogra- phy is a reliable, noninvasive imaging technique for the diagnosis of congenital aortic arch anomalies in children. Sometimes, even more information can be obtained from this technique than from conven- tional angiography.

R-I subtype single right coronary artery with congenital absence of left coronary system: A case report

BACKGROUND Isolated single coronary artery is a rare congenital anomaly.R-I subtype single coronary artery is even rarer.In this subtype,a very large right coronary artery extends in the coronary sulcus to the anterior base of the heart where it produces the left anterior descending coronary artery.Currently,only a few case reports are available in the literature for this anomaly.CASE SUMMARY Here,we report the case of a 62-year-old woman who presented to the cardiology clinic with decreased exercise tolerance and poor blood pressure control.The patient underwent coronary angiography(CAG)and emission computed tomography(ECT).CAG images revealed a single gigantic right coronary artery(R-I type)arising from the right coronary sinus with branches supplying the left coronary territory.The ECT results confirmed myocardial ischemia at the location of the absent left coronary artery.The ECT findings confirmed that ischemia was consistent with the vascular loss location in CAG images.In such anomalies,there is a compensatory widening of the coronary artery lumen.Medical treatment was administered,and the patient was discharged.CONCLUSION Isolated single coronary arteries are associated with ischemia and potentially fatal acute coronary events.Hence,controlling risk factors is critical.

Myocardial Protection with Beta Blocker Treatment in Infants with Heart Failure Due to Congenital Heart Defects and Duchenne Muscular Dystrophy

Our first intention to treat infants’ heart failure with beta blockers was to improve the clinical condition as shown in our prospective randomized trial. We only use non-selective beta blockers in these infants, carvedilol in those with left ventricular dysfunction and propranolol in those with congenital heart disease without ventricular dysfunction. Despite a significant improvement of Ross’s heart failure score, we could not convince most colleagues within the last 25 years if the concept of neurohumoral activation in heart failure is not well-established pediatric cardiology. Recently, Honghai Liu et al. published that cardiomyocyte cytokinesis failure was increased in congenital heart disease. Inactivation of the beta adreno receptors genes and administration of the beta-blocker propranolol increased cardiomyocyte division in neonatal mice, which increased the number of cardiomyocytes (endowment) and conferred benefit after myocardial infarction in adults. We currently realize that propranolol in infants with congenital heart disease not only decrease highly elevated NT-Pro-BNP values but also decrease cardiac troponin T values that may indicate myocardial injury due to neurohumoral activation. We reproduce this observation, primarily seen in infants with congenital heart disease, in an infant with Duchenne muscular dystrophy. These observations were in good accordance with current data from H. Liu et al., who showed that treatment with non-selective beta blockers early after birth might rescue cytokinesis defects and prevent heart dysfunction in adulthood in a mouse model.

Prediction of Pulmonary Arterial Pressure Level after Repair of Congenital Cardiac Communications and Discharge from the Hospital: Role of Down Syndrome and Early Postoperative Hemodynamics

Background:Postoperative pulmonary hypertension limits the success of surgical treatment in some patients with unrestrictive congenital cardiac communications.Identifying patients at risk of developing postoperative pulmonary hypertension is important to individualize follow-up strategies.Methods:We analyzed a prospective cohort of 52 pediatric patients(age 3 to 35 months)looking for perioperative predictors of mildly elevated pulmonary arterial pressure 6 months after surgery,defined as a systolic pressure greater than 30 mmHg by transthoracic echocardiography.This corresponds to a mean pulmonary arterial pressure of>20 mmHg.Clinical,echocardiographic and hemodynamic parameters were investigated.Perioperative hemodynamics was assessed by directly measuring pulmonary and systemic arterial pressures using indwelling catheters.Early postoperative pulmonary hemodynamics was defined as the mean pulmonary/systemic mean arterial pressure ratio(PAP/SAP)obtained per patient during the first 6 h of postoperative care.Results:Among the factors that were investigated as possible predictors,perioperative hemodynamics and the presence of Down syndrome were initially selected using univariate analysis(p<0.030).Early postoperative PAP/SAP was correlated with PAP/SAP obtained in the operating room just after cardiopulmonary bypass(r=0.70,p<0.001),and it was higher in subjects with Down syndrome than in nonsyndromic individuals(p=0.003).Early postoperative PAP/SAP was the only predictor selected using multivariate analysis.It was characterized as an independent predictor after adjustments for possible confounders.An early postoperative PAP/SAP of>0.35 was 76%sensitive and 74%specific at predicting a systolic pulmonary arterial pressure of>30 mmHg 6 months after surgery(hazard ratio with 95%CI 8.972[2.428–33.158],p=0.002).Conclusion:The hypertensive early postoperative behavior of the pulmonary circulation was strongly but not exclusively associated with Down syndrome,and it was characterized as an independent predictor of altered pulmonary arterial pressure after discharge from the hospital.

Multidetector computed tomography imaging of congenital anomalies of major airways:A pictorial essay

Congenital airway anomalies can be asymptomatic or may cause severe respiratory distress requiring immediate treatment.These anomalies can present early in life,or may be just incidental findings.It is important to recognize these entities to realize their clinical significance and to avoid false diagnosis.In this article, the various congenital airway anomalies and their imaging features by multidetector computed tomography (MDCT)are reviewed in order of occurrence during the embryological timeline.This pictorial essay reviews the various distinct congenital airway lesions and their MDCT manifestations.It also provides insight into the embryological basis of the congenital airway lesions encountered.