Association of Congenital Heart Defects (CHD) with Factors Related to Maternal Health and Pregnancy in Newborns in Puerto Rico

Background:Given the pervasive issues of obesity and diabetes both in Puerto Rico and the broader United States,there is a compelling need to investigate the intricate interplay among body mass index(BMI),pregesta-tional,and gestational maternal diabetes,and their potential impact on the occurrence of congenital heart defects(CHD)during neonatal development.Methods:Using the comprehensive System of Vigilance and Surveillance of Congenital Defects in Puerto Rico,we conducted a focused analysis on neonates diagnosed with CHD between 2016 and 2020.Our assessment encompassed a range of variables,including maternal age,gestational age,BMI,pregestational diabetes,gestational diabetes,hypertension,history of abortion,and presence of preeclampsia.Results:A cohort of 673 patients was included in our study.The average maternal age was 26 years,within a range of 22 to 32 years.The mean gestational age measured 39 weeks,with a median span of 38 to 39 weeks.Of the 673 patients,274(41%)mothers gave birth to neonates diagnosed with CHD.Within this group,22 cases were linked to pre-gestational diabetes,while 202 were not;20 instances were associated with gestational diabetes,compared to 200 without;and 148 cases exhibited an overweight or obese BMI,whereas 126 displayed a normal BMI.Conclusion:We identified a statistically significant correlation between pre-gestational diabetes mellitus and the occurrence of CHD.However,our analysis did not show a statistically significant association between maternal BMI and the likelihood of CHD.These results may aid in developing effective strategies to prevent and manage CHD in neonates.

Subcutaneous pedicle Limberg flap for repairing skin defects in the face

Objective:To investigate the effect of a subcutaneous pedicle Limberg flap for the reconstruction of medium-sized skin defects in the face following skin tumor or scar excision. Methods: From August 2002 to June 2004,the subcutaneous pedicle Limberg flap was designed to repair facial skin defects in 17 patients(19 flaps),and the size of the lesions ranged from 2.0 cm×1.9 cm to 5.0 cm×4.5 cm.The operation was performed under general anesthesia in 2 children,and under local anesthesia in the remaining 15 patients. Results: All flaps survived with primary healing postoperatively.With a follow-up from 1 to 22 months,neither short-term nor long-term postoperative complications such as flap necrosis,hematoma,infection,visible dog-ear and trap door deformity were found,and functionally and cosmetically satisfactory outcomes were achieved. Conclusion: This subcutaneous pedicle Limberg flap provides a competitive repair alternative for the treatment of medium-sized skin defects in the face.

Application of free vein skin flap on the anterior aspect of wrist in the case of finger injury with vessel and skin defect

Objective To introduce an effective reconstruction method for the finger injured with vessel and skin defect. Methods Free skin flap with skin vein was transplanted on the site of tissue defect, connecting by anastomosis the vein with artery or vein of the finger. Results Seven cases were treated with this method,among which 5 cases have sikin defect on the palm aspect of fingers, the rest have skin defect on the dorsal aspect skin of finger. All fingers survived with good shape and function. Conclusion This is a simple and effective method of finger reconstruction for the patients with defect of vessels and skin. 6 refs.

Repair of facial skin defect with a skin flap of SMAS pedicle

To report a method of repair facial skin defects with a skin flap of SMAS pedicle.Methods According to the size of defect of skin,design a skin flap with SMAS pedicle for repair of defect.Results The method has been successfully applied for skin defects of eyelid and lip in 14 cases with satisfied results.The area of the largest flap was 5 cm×3 cm.Conclusion Repairing facial defects such as eyelid skin defect or lip skin defect with skin flap of SMAS pedicle is a very good method.The flap has a good blood supporting and satisfactory color and flexibility.5 refs,6 figs.

Circulating microRNAs as potential biomarkers for diagnosis of congenital heart defects

BACKGROUND: Micro RNAs are small non-coding RNAs of approximately 22 nucleotides in length, and play important regulatory roles in normal heart development and the pathogenesis of heart diseases. Recently, a few prospective studies have implicated the diagnostic role of micro RNAs in congenital heart defects(CHD).DATA RESOURCES: This review retrieved the research articles in Pub Med focusing on the altered microR NAs in cardiac tissue or serum of patients with CHD versus healthy normal controls, as well as the studies exploring circulating microR NAs as potential biomarkers for(fetal) CHD.RESULTS: Most of the studies of interest were conducted in recent years, implicating that the topic in this review is a newly emerging field and is drawing much attention. Moreover, a number of differentially expressed microR NAs between CHD specimens and normal controls have been reported.CONCLUSION: Circulating micro RNAs may serve as potential biomarkers for diagnosis of CHD in the future, with more efforts paving the road to the aim.

Family lifestyle factors related to children's congenital heart defects in China:a case-control study

Objective To explore the multiple risk factors for family lifestyle of children with congenital heart defects(CHDs)in Shaanxi Province,China.Methods A 1∶1 case-control study was carried out to investigate 60 pairs of children and their parents.The univariate and multivariable logistic regression models were used to analyze the influence of risk factors related to parents’ lifestyle on CHDs.Results Several possible risk factors were found for CHDs,including fever(OR=4.465,P=0.017),pesticides contact(OR=2.234,P=0.083),passive smoking during pregnancy(OR=20.529,P=0.007)and father’s smoking(OR=3.342,P=0.005);fever(OR=2.428,P=0.012)and passive smoking during pregnancy(OR=1.201,P=0.037)were also correlated with ventricular sepal defect(VSD).Conclusion Fever,pesticides contact and passive smoking are associated with CHDs during pregnancy.We should focus our attention on health care during pregnancy to avoid the above-mentioned risk factors and call on parents to hold on to a good healthy lifestyle.

Genetic Analysis of Variants of the MYH6 Gene Promoter in Congenital Atrial Septal Defects

Background:Atrial septal defect(ASD)is one of the common congenital heart diseases.The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored.Methods:In 613 subjects including 320 ASD patients,we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis.Results:Eleven variants were identified in the MYH6 gene promoter,of which four variants were found only in ASD patients,and two variants(g.3434G>C and g.4524C>T)were identified for the first time.Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the MYH6 gene promoter(p<0.05).Subsequent analysis through the JASPAR(A database of transcription factor binding profiles)suggests that these variants may alter transcription factor binding sites,which may in turn lead to changes in myocardin subunit expression and ASD formation.Conclusions:Our study for the first time focuses on variants in the promoter region of the MYH6 gene in Chinese patients with ASD and the discovered variants have functional significance.The study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of ASD formation and facilitates clinical diagnosis.

Association between Maternal Drug Use and Cytochrome P450 Genetic Polymorphisms and the Risk of Congenital Heart Defects in Offspring

Objective This study aimed to assess the associations between maternal drug use,cytochrome P450(CYP450)genetic polymorphisms,and their interactions with the risk of congenital heart defects(CHDs)in offspring.Methods A case-control study involving 569 mothers of CHD cases and 652 controls was conducted from November 2017 to January 2020.Results After adjusting for potential confounding factors,the results show that mothers who used ovulatory drugs(adjusted odds ratio[a OR]=2.12;95% confidence interval[CI]:1.08-4.16),antidepressants(a OR=2.56;95%CI:1.36-4.82),antiabortifacients(a OR=1.55;95%CI:1.00-2.40),or traditional Chinese drugs(a OR=1.97;95%CI:1.26-3.09)during pregnancy were at a significantly higher risk of CHDs in offspring.Maternal CYP450 genetic polymorphisms at rs1065852(A/T vs.A/A:OR=1.53,95%CI:1.10-2.14;T/T vs.A/A:OR=1.57,95%CI:1.07-2.31)and rs16947(G/G vs.C/C:OR=3.41,95%CI:1.82-6.39)were also significantly associated with the risk of CHDs in offspring.Additionally,significant interactions were observed between the CYP450 genetic variants and drug use on the development of CHDs.Conclusions In those of Chinese descent,ovulatory drugs,antidepressants,antiabortifacients,and traditional Chinese medicines may be associated with the risk of CHDs in offspring.Maternal CYP450 genes may regulate the effects of maternal drug exposure on fetal heart development.

Percutaneous closure of congenital Gerbode defect using Nit-Occlud^®LêVSD coil

We present a case report about percutaneous closure of a congenital Gerbode defect using Nit-Occlud~? Lê VSD coil. The patient was referred to our hospital with a diagnosis of ventricular septal defect(VSD) and severe pulmonary arterial hypertension. But transthoracic echocardiography revealed a communication between the left ventricle(LV) and the right atrial(RA), called Gerbode defect. Catheterization confirmed the shunt from the LV to the RA. We successfully closed the defect with a VSD coil. After uneventful 6 mo follow-up, the patient was out of dyspnea, the symptom urged him to have medical attention. This case report is to discuss the diagnosis and percutaneous treatment approach for this rare congenital heart disease.

A 49-year-old male with sleep-disordered breathing and nocturnal paroxysmal dyspnea after congenital heart defect correction

Rationale PH is a pathophysiological disorder involving multiple clinical conditions and is often concomitant with other cardiopulmonary diseases,and related differential diagnosis is quite tricky for its various etiologies.Patient characteristics A 49-year-old man presented with 1-year history of nocturnal paroxysmal dyspnea and was transferred to our hospital.

Prenatal congenital heart defects in southern China:detection rate and termination of preqnancy,2006-2016

Objective Congenital heart defect (CHD) is one of the most common birth anomalies with high morbidity and mortality. Previous studies of CHD mostly focus on the postnatal prevalence, mortality and successful rate of operation, etc. This study aimed to explore the detection rate of prenatal CHD and CHD factors that attribute to termination of pregnancy (TOP).

Real-Time Remote-Mentored Echocardiography in Management of Newborns with Critical Congenital Heart Defects

Background:The management of suspected critical congenital heart defects(CCHD)relies on timely echocardiographic diagnosis.The availability of experienced echocardiographers is limited or even non-existent in many hospitals with obstetric units.This study evaluates remote-mentored echocardiography performed by physicians without experience in imaging of congenital heart defects(CHD).Methods:The setup included a pediatric cardiologist in a separate room,guiding a physician without experience in echocardiographic imaging of CHD in the examination of a symptomatic newborn.This remote-mentoring pair was blinded to the diagnosis of the newborn and presented with a simplified patient history.The echocardiographic images were streamed to the laptop of the mentor,along with a webcam feed showing the probe position.The task was to identify CCHD in need of immediate transfer to a pediatric cardiac surgical center.The result was compared to the previously completed echocardiographic report and the clinical decision of the patient-responsible pediatric cardiologist.Results:During 17 months,15 newborns were recruited.All six newborns with CCHD were correctly labeled by the remotementoring pair.One newborn with Tetralogy of Fallot was erroneously labeled as needing immediate transfer.Eight newborns without CCHD were correctly labeled.Conclusions:Remote-mentored echocardiography performed by examiners without experience in imaging CHD identified all newborns with CCHD in need of immediate transfer for specialist care.The setup shows promising results for improving the management of CCHD in hospitals without continuous pediatric cardiology service.

Hypertension and Heart Failure as Predictors of Mortality in an Adult Congenital Heart Defect Population

Early intervention to prevent premature mortality is vital for adults with congenital heart defects(CHD).Anatomic complexity and comorbid conditions are thought to contribute to CHD mortality.Since hypertension(HTN)and heart failure(HF)are the comorbid conditions among the most prevalent causes of death in the United States,and commonly accompany CHD,it is crucial to evaluate whether they are reliable predictors of mortality for adults with CHD(ACHD)independent of anatomic CHD complexity.A retrospective cross-sectional analysis of ACHD,aged 18–64,with concomitant HTN and/or HF and at least one health care encounter during 2008–2010 were assessed.Of 5,397 ACHD patients(18.3%HTN without HF,4.4%HF without HTN,8.3%with both),3.0%died(n=163)during the study period.Overall,the sample was 45.1%white,61.4%female,and 29.0%had a complex CHD.Among those who died,23.3%had HTN without HF,17.2%had HF without HTN,and 42.3%had both.Crude analyses revealed that older age,male gender,black race,and having public health insurance were associated with increased mortality during the three-year study period compared to ACHD patients who were younger,female gender,white race,and covered by private health insurance.ACHD patients diagnosed with non-complex CHD lesions(i.e.,shunts,valves,or shunts+valves)were at greater risk of dying compared to those with severe complex CHDs.When CHD type was assessed separately,those with valve lesions were more likely to die compared to those with complex CHD lesions.After adjustment for age,gender,race,insurance and CHD complexity,ACHD patients with HF,with or without HTN,were equally likely to die during the study period.However,ACHD patients with HF,without or without HTN,who had valve defects were more likely to die during the three-year study period compared to patients with complex CHDs.

Bipedicled Mini V-Y Advancement Flap for Skin Defect of the Face

In young patients, even small circular facial defects after the excision of benign skin tumors present a reconstructive challenge. The usefulness of a V-Y advancement flap for reconstructing such defects is well documented. We refined this technique as a mini V-Y advancement flap consisting of two subcutaneous pedicles that vascularize the skin island via subdermal plexus lateral bridges. This technique was used for 21 middle-aged or younger patients with a small benign skin lesion. None of them experienced any postoperative complications. Aesthetically excellent results were found in all patients. This small advancement flap could be attempted as an alternative to fusiform excision of small skin lesions, particularly in younger patients.

Current Advances in Transcatheter Intervention for Children Born with Congenital Heart Defects: A Review of Literature

This review aims to sum up the improvements witnessed in the field of interventional cardiology during recent times. The last decade has witnessed significant technical advances in the field of radiological imaging and also in interventional cardiology which has helped to offer more non-invasive solutions for the management of congenital heart defects. This has resulted from the use of advanced 3-dimensional fusion imaging instead of conventional 2-dimensional angiography, applying interactive real-time enhancement and using computed tomography and Magnetic Resonance Imaging for interventional procedures. Similarly the introduction of next generation devices, have not only improved the final outcome of the procedure but also has helped in reducing the challenges that were faced before and with the initial generation of devices. These advances have helped not only in reducing the radiation exposure, the use of contrast medium dose but also have resulted in improved early survival. The field of neonatal cardiology has advanced at an unprecedented pace. The transcatheter closure of patent ductus arteriosus has evolved over time and now it has been made possible at much lower body weight. Similarly, early use of stents for aortic coarctation has been found effective in some patients, especially when surgical intervention had been denied. The application of the hybrid approach for the management of complex congenital heart defects has also been effectively applied. More recently transcatheter placement of the pulmonary valve has been introduced for severely stenotic and/or regurgitant pulmonary valve in adolescents and adults. It is anticipated that in near future, this procedure would be available for relatively younger patients. In conclusion: last 2 decades have improvised pediatric interventional cardiology to incorporate less invasive solutions for CHD. The current advances in radio-diagnostic imaging, gadgetry and technical expertise have improved significantly and led to manage many of such defects by trans-catheter approach. This has led also, to replace the early surgical intervention with a more subtle hybrid approach, thus reducing not only the major surgical trauma but also been found to be cost-effective due to a shorter hospital stay. But a learning curve for performers is required for optimum results and also such procedures should be performed in a fully developed facility with an optimum surgical backup.

Burden of Congenital Defects Diagnosed through Ultrasonography in Soba Fetomaternal Unit, Khartoum, Sudan

Background: Congenital anomalies are among the leading causes of fetal loss, despite it can be identified prior to birth through advanced technology in expert hands. Our research aimed at estimating the prevalence of congenital anomalies in Sudan. Methods: A facility-based retrospective cross-sectional study combined with a community-based survey through a telephone interview was implemented on a purposive convenient sample of 138 participants. The data were computerized in Epi Info 7. Google Earth Pro enabled to collect the geographical coordinates for the residence of the participants. Descriptive statistics were performed through SPSS 23 and ArcGIS 10.3 was used to generate the geographical distribution map of congenital defects to visualize the catchment areas of Soba Ultrasonography Unit. Results: Of the 138 participants, the estimated prevalence of congenital defects was 2.2/10,000 live births. The ultrasonography screening revealed that neural tube defects were the most prevalent anomalies with 13.0% (18/138), which represented 47.4% (18/38) of all defects. Concerning children, a mortality rate of 23.2% (32/138) was reported. Conclusions: The child mortality rate post ultrasound screening of 23.2%, and the neural tube defects being the most common anomalies appealed to Sudan health authorities for focusing on more preventive antenatal practices to strengthen and promote maternal and child health.

Maternal Vascular Dysfunction in Congenital Heart Defects

Background:Research on fetal congenital heart defect(CHD)mostly focuses on etiology and mechanisms.However,studies on maternal complications or pathophysiology are limited.Our objective was to determine whether vascular dysfunction exists in pregnant women carrying a fetus with congenital heart defects.Methods:We conducted a case-control study.27 cases of pregnant women carrying a fetus with major CHD admitted to our hospital for delivery between April 2021 and August 2022 were selected.Every case was matched with about 2 pregnant complication-free controls without fetal abnormalities.The proangiogenic and anti-angiogenic factors and pregnancy outcomes were compared.Results:The proangiogenic factors include vascular endothelial growth factor(VEGF)and placental growth factor(PlGF).The anti-angiogenic factors involve soluble fms-like tyrosine kinase 1(sFlt-1)and soluble endoglin(sEng).No differences were found in maternal plasma concentrations of PlGF,VEGF,and sFlt-1 between case-control groups when analyzed at 36 weeks≤gestational age(GA)<39 weeks and 39 weeks≤GA≤41 weeks.The concentrations of sEng in maternal plasma in the fetal CHD group were significantly higher than those in the control group:0.60(0.77)vs.0.32(0.26)ng/ml at 36 weeks≤GA<39 weeks,p=0.001 and 0.75(0.55)vs.0.28(0.27)ng/ml at 39 weeks≤GA≤41 weeks,p<0.001.Conclusion:Vascular dysfunction exists in pregnant women with fetal congenital heart defects,manifesting significantly elevated sEng concentration at delivery.

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

Regenerative Medicine: A Review of Solutions in the Treatment of Skin Defects

The issue of skin defects is a major concern of almost every trauma surgeon after surgery. Despite numerous conventional methods and introduction of the reconstruction ladder, managing skin defects is still a challenge for the trauma surgeons. In recent years, parallel to the advances in the more conventional methods of skin repair, regenerative medicine has offered new and novel treatments. This article aims to explore these contemporary regenerative solutions as well as to review the conventional methods of treating skin defects.

Morphological Characteristics of the Artery of the Atrioventricular Node by Congenital Heart Defects

The objective of the work is to study the topographic and anatomical characteristics of the atrioventricular node’s artery in complex congenital heart defects.The material for the work was the following:44 specimens including hearts of fetuses and children of the first three years having congenital defects and 50 specimens of the hearts of a similar age with normal development as the control.A complex of generally accepted morphological methods was used to identify the conductive system of the heart,its blood supply.According to the data obtained given congenital heart defects,the artery of the atrioventricular node arises from an artery,that determines the type of blood supply to the heart.With the full form of the common atrioventricular canal,the presence of the“U”-shaped bend of the coronary artery at the point of departure of the atrioventricular artery from it is inconstant,which is apparently due to the localization of the atrioventricular node in the embryonic position.The intensity of the lateral branches from the artery of the atrioventricular node to the heart partitions is determined by the hemodynamic features with congenital heart defects.