Acute spinal subdural haematoma complicating a posterior spinal instrumented fusion for congenital scoliosis:A case report

BACKGROUND Acute spinal subdural haematoma(ASSH)is a rare and potentially devastating condition with a variable prognosis.Previously described subdural haematomas were thought to have occurred spontaneously or be related to major or minor iatrogenic or traumatic injuries caused by surgery,spinal puncture or epidural anaesthesia.Other contributing pathologies have been described,such as intradural tumours or spinal arteriovenous malformations.ASSH has also been associated with anticoagulation therapy,haemostatic abnormalities and risk factors such as pregnancy.To the best of our knowledge,this case study described the first reported occurrence of an ASSH during spinal surgery in a paediatric patient.The patient was not known to have any coagulopathies,and no obvious vascular lesions were documented.The surgical procedure did not directly involve the dura mater,and no evident intraoperative dural tears were found.CASE SUMMARY We reported and discussed a case of ASSH complicating a posterior spinal instrumented fusion during surgery for paediatric congenital scoliosis.This condition has not been previously described.We made recommendations for facing such an occurrence,explored its aetiology in the context of malformation and discussed the benefits of neuromonitoring during scoliosis correction and the management protocol.We conducted a PubMed literature review for cases of paediatric ASSH and other closely related disorders.We reviewed recommendations regarding neuromonitoring and treatment management in such cases.CONCLUSION ASSH is a rare complication of posterior spinal instrumented fusion.Published cases are more often associated with anticoagulation therapy or coagulopathy.Neuromonitoring is strongly recommended to detect and assess neurological status,thus enabling rapid diagnosis and treatment and facilitating early spinal decompression and a return to a normal neurological status.

CORRECTIVE SURGERY OF CONGENITAL SCOLIOSIS WITH TYPE II SPLIT SPINAL CORD MALFORMATION

Objective To investigate the corrective results of congenital scoliosis with type II split spinal cord malformation.Methods By reviewing the medical records and roentgenograms of congenital scoliosis patients with type II split spinal cord malformation that underwent corrective surgery, septum location and length, curve type, coronal and sagittal Cobb’s angles, apical vertebral rotation and translation, and trunk shift were measured and analyzed.Results A total of 23 congenital scoliosis patients with type II split spinal cord malformation were studied, 6 cases were due to failure of segmentation, 8 cases due to failure of formation, and the remaining 9 cases due to mixed defects.The fibrous septums were located in the thoracic spine in 8 patients, lumbar spine in 4 patients, thoracic and lumbar spine in 10 patients, and from cervical to lumbar spine in 1 patient.The septum extended an average of 4.9 segments.Corrective surgeries included anterior correction with instrumentation in 2 patients, posterior correction with instrumentation in 11 patients, anterior release and posterior correction with instrumentation in 6 patients, anterior and posterior resection of the hemivertebra and posterior correction with instrumentation in 4 patients.The pre- and postoperative coronal Cobb’s angles, apical vertebral translations, apical vertebral rotations, trunk shifts were 61.9° and 32.5°(P<0.001), 48.9 mm and 31.5 mm (P<0.001), 1.2 and 1.1, 12.7 mm and 8.2 mm, respectively.The average correction rate of coronal Cobbs angle was 47.5%.The sagittal balance was also well improved.The fibrous septums were all left in situ. There was no neurological complication.Conclusion For congenital scoliosis with type II split spinal cord malformation, positive correction results with no neurological complication may be obtained without resection of the fibrous septum.

Successful Congenital Kyphoscoliosis (with Severe Truncal Shift) Correction Associated with Syrinx and Diastematomylia without Prior Neurosurgical Intervention: A Case Report and Brief Review of Literature

Introduction and Importance: The use of halo-femoral traction to ease correction in patients with scoliosis with multiple intraspinal pathologies is an evolving technique that is not yet fully understood. This report aimed to demonstrate the efficiency of using this technique to achieve maximum deformity correction along with decreasing complication rates. Case Presentation: Congenital scoliosis with two intraspinal pathologies was corrected in a 17-year-old male with severe truncal shift, who was easily fatigued due to respiratory symptoms, utilizing the traction method with no neurosurgical intervention. The patient had consulted many hospitals locally and internationally, and was told that surgery poses a great risk of neurological deficit. He needed neurosurgical release of the cord prior to any deformity correction. Management and Outcome: The patient did not undergo any neurosurgical intervention, but rather posterior spinal correction and instrumented fusion preceded by halo-femoral traction. He was followed up for 5 years and showed complete recovery without any short-term or long-term complications. The patient was able to return to full activity and resolution of respiratory symptoms, and a good alignment on follow-up radiography was observed. Discussion: Not all patients with scoliosis associated with intraspinal pathology need treatment before spinal correction. Perioperative halo-femoral traction seems to be safe and effective in maximizing deformity correction and decreasing the risk of complications.

Anesthesia of a patient with congenital cataract,facial dysmorphism,and neuropathy syndrome for posterior scoliosis:A case report

BACKGROUND Congenital cataract,facial dysmorphism,and neuropathy(CCFDN)syndrome is an extremely rare multiorgan disorder.Characteristics include congenital cataracts,facial deformation,extremity deformities,and demyelinating neuropathy.CCFDN syndrome is associated with increased risk during anesthesia including rhabdomyolysis or epileptic seizures.There is a lack of published information about difficult airways in these patients.Difficult airways during intubation represent one of the most dreaded anesthesia complications:A"can not intubate,can not oxygenate"scenario.Presented herein is the first described successful endotracheal intubation of a CCFDN syndrome patient.CASE SUMMARY We report the anesthetic management of a 13-year-old girl with CCFDN syndrome scheduled for posterior neuromuscular scoliosis correction surgery.The patient suffered from extensive progressive neuromuscular scoliosis with a Cobb angle of 83°.Her limitations included neuropathy and a scoliotic curve.This condition negatively impacted her quality of life.This case reflects the potential anesthetic complications for posterior scoliosis correction and CCFDN syndrome.The challenge for our anesthetic team was the limited amount of data about anesthetic management of this condition.In total,one case report without any data about endotracheal intubation of patients with this condition was available.Endotracheal intubation in our case was uncomplicated.Another focus of our case was the prevention of possible complications associated with this syndrome,including rhabdomyolysis and seizures.Rhabdomyolysis can be triggered by some types of anesthetic agents like suxamethonium or volatile anesthetics,especially in patients with certain types of myopathies.CONCLUSION Adequate understanding of the anesthetic management of CCFDN syndrome can reduce perioperative complications and improve patient outcome after surgery.

SIMULTANEOUS ANTERIOR AND POSTERIOR HEMIVERTEBRA RESECTION IN THE TREATMENT OF CONGENITAL KYPHOSCOLIOSIS

Objective To evaluate the efficacy of simultaneous anterior and posterior hemivertebra resection in the treatment of congenital kyphoscoliosis caused by fully-segmented hemivertebra. Methods Twenty-one consecutive cases with congenital kyphoscoliosis, which were 8 males and 13 females, underwent one-stage operation of anterior hemivertebra resection and posterior instrumentation. All of the hemivertebra were fully-segmented. The average age at surgery was 11.4 (range, 1.5-16) years old. Results The average follow-up was 23 (range, 6-50) months. The average Cobb’s angle of the coronal curve was 51.4° (30°-120°) before surgery, 16.9° (0°-54°) after surgery, and 19.5° at latest follow-up. The angle of segmental kyphosis was 37.1° (0°-95°) before surgery and 16.1° (0°-48°) after surgery, and 18.2° at latest follow-up. Apical translation was improved from 4.7 cm to 1.9 cm. The average fusion segments were 4.8 (range, 2-10) segments. Complication included pressure sore in one case, pedicle cutting by pedicle screw in one case and elongation of the curve in one case. There was no obvious pseudarthrosis, decompensation, and kyphosis deformity aggravation at latest follow-up. Conclusion One-stage hemivertebra resection has a good result in the surgical treatment of congenital kyphoscoliosis caused by fully-segmented hemivertebra, and may shorten fusion levels if performed at an earlier age.

Scoliocorrector Fatma-UI for correction of adolescent idiopathic scoliosis: Development, effectivity, safety and functional outcome

BACKGROUND Adolescent idiopathic scoliosis remains a major problem due to its high incidence,high risk,and high cost.One of the aims of the management in scoliosis is to correct the deformity.Many techniques are available to correct scoliosis deformity;however,they are all far from ideal to achieve three-dimensional correction in scoliosis.AIM To develop a set of tools named Scoliocorrector Fatma-UI(SCFUI)to aid threedimensional correction and to evaluate the efficacy,safety,and functional outcome.METHODS This study consists of two stages.In the first stage,we developed the SCFUI and tested it in finite element and biomechanical tests.The second stage was a single-blinded randomized clinical trial to evaluate the SCFUI compared to direct vertebral rotation(DVR).Forty-four subjects with adolescent idiopathic scoliosis were randomly allocated into the DVR group(n=23)and SCFUI group(n=21).Radiological,neurological,and functional outcome was compared between the groups.RESULTS Finite element revealed the maximum stress of the SCFUI components to be between 31.2-252 MPa.Biomechanical analysis revealed the modulus elasticity of SCFUI was 9561324±633277 MPa.Both groups showed improvement in Cobb angle and sagittal profile,however the rotation angle was lower in the SCFUI group(11.59±7.46 vs 18.23±6.39,P=0.001).Neurological and functional outcome were comparable in both groups.CONCLUSION We concluded that SCFUI developed in this study resulted in similar coronal and sagittal but better rotational correction compared to DVR.The safety and functional outcomes were also similar to DVR.

Implications of Pediatric Chest Wall Surgery on the Risk of Developing of Scoliosis

Scoliosis, a three-dimensional deformity of the spine, is commonly encountered in orthopedic and multidisciplinary settings, with idiopathic scoliosis being the most diagnosed form. Complications arising from thoracic chest wall surgeries, including thoracotomy and sternotomy, often include scoliosis among other complications. However, reported prevalence rates of scoliosis following chest wall surgery vary widely. This study aims to compare the prevalence of scoliosis in children who have undergone chest wall surgery to the prevalence of idiopathic scoliosis in the general population, as well as to observe gender ratios and curve direction in post-surgery scoliosis cases. A systematic review was conducted using PubMed and Scopus databases to identify relevant studies. Inclusion criteria comprised studies reporting scoliosis prevalence post chest wall surgery with follow-up times post-surgery. The search yielded 30 articles, all retrospective institutional cohort studies published between 1975 and 2024. Despite heterogeneity in study characteristics, the analysis revealed a 19% prevalence of acquired scoliosis among 5722 children who underwent chest wall surgery, higher than the reported 1% - 4% prevalence in the idiopathic population. Only three studies showed prevalence rates similar to the idiopathic population, possibly due to short follow-up periods. Further research with longer follow-up into skeletal maturity is warranted to better understand the implications of pediatric chest wall surgery on scoliosis development.

Percutaneous kyphoplasty in the treatment of Kümmell disease in lumbar scoliosis:A case report

BACKGROUND Due to mechanical imbalance in the spine,elderly scoliosis patients tend to develop vertebral fracture nonunion,i.e.,Kümmell disease,when osteoporotic vertebral compression fractures occur.However,accompanying vertebral rotational deformities make surgical procedures challenging risky.Such patients are usually compelled to undergo conservative treatment and there are very few reports on minimally invasive surgeries for them.We first-time report a patient with Kümmell disease and lumbar scoliosis treated with percutaneous kyphoplasty(PKP)under O-arm guidance.CASE SUMMARY An 89-year-old female was admitted to the hospital due to delayed low back pain after a fall.She was diagnosed with Kümmell disease based on physical and radiologic examinations.The patient experienced severe scoliosis and subsequently underwent O-arm-guided kyphoplasty,resulting in a significant alleviation of low back pain.CONCLUSION PKP has good efficacy in treating Kümmell disease.However,surgical risks are elevated in scoliosis patients with Kümmell disease due to the abnormal anatomical structure of the spine.O-arm assisted operations play a crucial role in decreasing surgical risks.

Klippel Trenaunay Syndrome with Angiokeratoma Circumscriptum Naeviforme and Bilateral Congenital Anorchia: A Rare Association

Klippel-Trenaunay syndrome (KTS) is not a common congenital vascular abnormality. A trio of capillary malformation, venous varicosities, and bony or soft-tissue hypertrophy define this syndrome. Significant morbidities associated with this illness include bleeding, deep vein thrombosis, and embolic consequences. Angiokeratoma circumscriptum naeviforme (ACN) is indeed a congenital variant of angiokeratoma that appears as a hyperkeratotic plaque on the lower extremity. Bilateral congenital anorchia (BCA) is the total lack of testicular tissue in a male with a normal phenotype and karyotype. KTS has been linked to ACN. Here we presented an 8-year-old male child who came with a swollen left thigh and the right side of his face with overlying blackish nodules on his left thigh and scrotum. The patient was diagnosed as KTS with angiokeratoma circumscriptum naeviforme and bilateral congenital anorchia based on his history, imaging studies and the typical clinical features of the disease.

Impact of Social Determinants of Health on Self-Perceived Resilience: An Exploratory Study of Two Cohorts of Adults with Congenital Heart Disease

Social determinants of health(SDOH)affect quality of life.We investigated SDOH impacts on self-perceived resilience among people with adult congenital heart disease(ACHD).Secondary analysis of data from two com-plementary studies:a survey study conducted May 2021–June 2022 and a qualitative study conducted June 2020–August 2021.Resilience was assessed through CD-RISC10 score(range 0–40,higher scores reflect greater self-perceived resilience)and interview responses.Sociodemographic and SDOH(education,employment,living situa-tion,monetary stability,financial dependency,area deprivation index)data were collected by healthcare record review and self-report.We used linear regression with robust standard errors to analyze survey data and performed a thematic analysis of interview data.Survey participants(N=127)mean age was 42±14 years;51%were female,87%white.ACHD was moderate(75%)or complex(25%);41%functional class C or D.Resilience(mean 30±7)varied by monetary stability:compared to people with difficulty paying bills,resilience was 15.0 points higher(95%CI:6.9–23.1,p<0.001)for people reporting having enough money and 14.2 points higher(95%CI:5.9–22.4,p=0.001)for those reporting just enough money.Interview participants’(N=25)mean age was 32 years(range 22–44);52%were female,72%white.ACHD was moderate(56%)or complex(44%);76%functional class C or D.Participants discussed factors affecting resilience aligned with each of the major SDOH,prominently,economic stability and healthcare access and quality.Financial stability may be important for supporting self-perceived resi-lience in ACHD.This knowledge can inform the development of resilience interventions for this population.

Loss to Specialized Cardiology Follow-Up in Adults Living with Congenital Heart Disease

Background:Much has been written about the loss to follow-up in the transition between pediatric and adult Congenital Heart Disease(CHD)care centers.Much less is understood about the loss to follow-up(LTF)after a successful transition.This is critical too,as patients lost to specialised care are more likely to experience mor-bidity and premature mortality.Aims:To understand the prevalence and reasons for loss to follow-up(LTF)at a large Australian Adult Congenital Heart Disease(ACHD)centre.Methods:Patients with moderate or highly complex CHD and gaps in care of>3 years(defined as LTF)were identified from a comprehensive ACHD data-base.Structured telephone interviews examined current care and barriers to clinic attendance.Results:Overall,407(22%)of ACHD patients(n=1842)were LTF.The mean age at LTF was 31(SD 11.5)years and 54%were male;311(76%)were uncontactable.Compared to adults seen regularly,lost patients were younger,with a greater socio-economic disadvantage,and had less complex CHD(p<0.05 for all).We interviewed 59 patients(14%).The top 3 responses for care absences were“feeling well”(61%),losing track of time(36%),and not needing fol-low-up care(25%).Conclusions:A large proportion of the ACHD population becomes lost to specialised cardiac care,even after a successful transition.This Australian study reports younger age,moderate complexity defects,and socio-economic disadvantage as predictive of loss to follow-up.This study highlights the need for novel approaches to patient-centered service delivery even beyond the age of transition and resources to maintain patient engagement within the ACHD service.

Long-Term Mortality of Children with Congenital Heart Disease Admitted to the Departmental University Hospital of Borgou/Alibori from 2011 to 2022

Background: Congenital heart disease is a public health issue due to its incidence and mortality rate. The aim of this study was to investigate the long-term mortality of children with congenital heart disease admitted to the Departmental University Hospital of Borgou/Alibori (CHUD-B/A) from 2011 to 2022. Methods: This descriptive longitudinal study with analytical aims covered 11 years (April 1, 2011 to December 31, 2022). It consisted of a review of the records of children under 15 years of age with echocardiographically confirmed congenital heart disease. This was followed by an interview with the parents to assess the children’s current condition. Data were entered using Kobocollect software and analyzed using R Studio 4.2.2. software. Results: A total of 143 complete files were retained. The median age at diagnosis was 14 months (IIQ: Q1 = 4;Q3 = 60) with a range of 2 days and 175 months, and the sex-ratio (M/F) was 0.96. Left-to-right shunts were the most frequent cardiopathy group (62.9%). Only 35 children (24.5%) benefited from restorative treatment. The mortality rate was 31.5%. Median survival under the maximum bias assumption was 114 months and 216 months under the assumption of minimum bias. Survival was significantly better in children with right-to-left shunts (p = 0.0049) under the assumption of minimum bias. The death risk factors were: age at diagnosis less than 12 months (aHR = 7.58;95% CI = 3.36 - 17.24;p Conclusion: The long-term mortality of congenital heart disease is high and favoured by the absence of restorative treatment. Local correction of congenital heart disease and medical follow-up will help to reduce this mortality.

Classification of congenital cataracts based on multidimensional phenotypes and its association with visual outcomes

●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patients diagnosed with congenital cataracts and undergoing surgery between January 2005 and November 2021 were recruited.Data on visual outcomes and the phenotypic characteristics of ocular biometry and the anterior and posterior segments were extracted from the patients’medical records.A hierarchical cluster analysis was performed.The main outcome measure was the identification of distinct clusters of eyes with congenital cataracts.●RESULTS:A total of 164 children(299 eyes)were divided into two clusters based on their ocular features.Cluster 1(96 eyes)had a shorter axial length(mean±SD,19.44±1.68 mm),a low prevalence of macular abnormalities(1.04%),and no retinal abnormalities or posterior cataracts.Cluster 2(203 eyes)had a greater axial length(mean±SD,20.42±2.10 mm)and a higher prevalence of macular abnormalities(8.37%),retinal abnormalities(98.52%),and posterior cataracts(4.93%).Compared with the eyes in Cluster 2(57.14%),those in Cluster 1(71.88%)had a 2.2 times higher chance of good best-corrected visual acuity[<0.7 logMAR;OR(95%CI),2.20(1.25–3.81);P=0.006].●CONCLUSION:This retrospective study categorizes congenital cataracts into two distinct clusters,each associated with a different likelihood of visual outcomes.This innovative classification may enable the personalization and prioritization of early interventions for patients who may gain the greatest benefit,thereby making strides toward precision medicine in the field of congenital cataracts.

Use of Patient-Specific “4D” Tele-Education to Enhance Actual and Perceived Knowledge in Congenital Heart Disease (CHD) Patients

Background:Patients with congenital heart disease(CHD)will transition to lifelong adult congenital cardiac care.However,their structural heart disease is challenging to convey via two-dimensional drawings.This study utilized a tele-educational environment,with personalized three-dimensional(3D)modeling and health Details(3D+Details=“4D”),to improve actual and perceived knowledge,both important components of transition readiness in CHD patients.Methods:Participants aged≥13 years with a history of CHD and cardiac magnetic resonance imaging(MRI)studies were eligible.Cardiac MRI datasets were then used to segment and create 3D heart models(using Mimics,Materialize Inc.).Participantsfirst completed the MyHeart Questionnaire,a validated survey of actual knowledge.A tele-educational session was then scheduled,during which participants were shown a 3D model of a normal heart,followed by their personal 3D heart model and specific health details.Participants then repeated the actual knowledge survey,in addition to questionnaires assessing perceived knowledge pre-and post-session,as well as a satisfaction survey.Results:Twenty-two patients were included.Actual knowledge increased from 75%±15%to 89%±20%(p=0.00043)and perceived knowledge increased infive of seven questions.Actual knowledge correlated with perceived knowledge(r=0.608,p<0.0001).Ninety-one percent of participants ranked the 3D model as“very satisfactory”and ninety-five percent ranked the educational session as“very help-ful”or“extremely helpful.”Conclusions:The use of“4D”tele-education increased both actual and perceived knowledge and may help improve transition readiness in CHD patients.

Abnormal function of EPHA2/p.R957P mutant in congenital cataract

AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.METHODS:A four-generation Chinese family affected with autosomal dominant congenital cataract was recruited.Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals.Sanger sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant discovery.The pathogenicity of the variant was evaluated by the guidelines of American College of Medical Genetics and InterVar software.Confocal microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2(EPHA2).Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane proteins.The mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting assay,respectively.The cell migration was analyzed by wound healing assay.Zebrafish model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in vivo.RESULTS:A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif(SAM)domain of EPHA2.Functional studies demonstrated the variant’s impact:reduced EPHA2 protein expression,altered subcellular localization,and disrupted interactions with other lens membrane proteins.This mutant notably enhanced human lens epithelial cell migration,and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast(DIC)optics.CONCLUSION:Novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.

Extra Renal Rhabdoid Tumor: A Rare Cause of Congenital Soft Tissue Tumor

Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.

Novel MIP gene mutation causes autosomal-dominant congenital cataract

●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinations.Gene panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each family.Sanger sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation analysis.The effect of sequence changes on protein structure and function was predicted through bioinformatics analysis.Major intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage embryos.Zebrafish embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another family.In-silico prediction indicated that the novel mutation might affect the MIP protein function.Zebrafish embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is novel.These findings expand the genetic spectrum of MIP mutations associated with cataracts.The functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.

Transcatheter Closure of Postoperative Residual Atrial or Ventricular Septal Shunts in Patients with Congenital Heart Disease

Background:Transcatheter closure(TCC)has emerged as the preferred treatment for selected congenital heart disease(CHD).While TCC offers benefits for patients with postoperative residual shunts,understanding its mid-and long-term efficacy and safety remains crucial.Objective:This study aims to assess the mid-and long-term safety and efficacy of TCC for patients with residual atrial or ventricular septal shunts following CHD correction.Methods:In this consecutive retrospective study,we enrolled 35 patients with residual shunt who underwent TCC or surgical repair of CHD between June 2011 to October 2022.TCC candidacy was determined based on established criteria.Echocardiography and electrocardiogram were conducted during the perioperative period and continued as part of long-term follow-up.Results:Among the patients,5(14.3%)exhibited interatrial shunt-ing,while 30(85.7%)had interventricular shunting.TCC was successfully implemented in 33 of 35 patients,with exceptions in two cases of post-ventricular septal defect repair due to anatomical challenges involving the shape and aortic angulation.This resulted in a TCC success rate of 94.3%.Trace residual shunt was detected in two interventricular shunting cases and a mild residual shunt in one interventricular shunting case;all resolved by the three-month follow-up after TCC.Minor complications included one hematoma at the puncture site and one transient junctional rhythm during the perioperative period.During a median follow-up of 73 months,there were no instances of residual shunt,device embolization,occluder displacement,valve insufficiency,malignant arrhythmia,infective endocarditis,death,or other serious complications.Conclusion:TCC is an effective and safe therapy for patients with residual atrial or ventricular septal shunts following CHD correction.Thesefindings support the consideration of TCC as the preferred treatment option for appropriate patient populations.

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.

DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Congenital Heart Diseases

Aims:Multiple genes and environmental factors are known to be involved in congenital heart disease(CHD),but epigenetic variation has received little attention.Monozygotic(MZ)twins with CHD provide a unique model for exploring this phenomenon.In order to investigate the potential role of Deoxyribonucleic Acid(DNA)methyla-tion in CHD pathogenesis,the present study examined DNA methylation variation in MZ twins discordant for CHD,especially ventricular septal defect(VSD).Methods and Results:Using genome-wide DNA methylation profiles,we identified 4004 differentially methylated regions(DMRs)in 18 MZ twin pairs discordant for CHD,and 2826 genes were identified.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis revealed a list of CHD-associated pathways.To further investigate the role of DNA methylation in VSD,data from 7 pairs of MZ twins with VSD were analyzed.We identified 1614 DMRs corresponding to 1443 genes associated with arrhythmogenic right ventricular cardiomyopathy,cyclic guanosine monopho-sphate-protein kinase G(cGMP-PKG)signaling pathway by KEGG analysis,and cell-cell adhesion,calcium ion transmembrane transport by GO analysis.A proportion of DMR-associated genes were involved in calcium signaling pathways.The methylation changes of calcium signaling genes might be related to VSD pathogenesis.Conclusion:CHD is associated with differential DNA methylation in MZ twins.CHD may be etiologically linked to DNA methylation,and methylation of calcium signaling genes may be involved in the development of VSD.