Congenital Research Articles

Safety assessment of clomiphene: a real-world pharmacovigilance analysis from the Food and Drug Administration adverse event reporting system

ABSTRACT Background Clomiphene is widely used for the treatment of anovulatory infertility, yet there remain many unrecognized adverse events (AEs). The objective of this study is to provide a comprehensive overview of the safety profile of clomiphene. Methods The data were derived from the first quarter of 2004 to the third quarter of 2023 from the Food and Drug Administration Adverse Event Reporting System (FAERS) database. The detection of new AE signals involved the use of four algorithms: reporting odds ratio (ROR), proportional reporting ratio (PRR), Bayesian confidence propagation neural network (BCPNN), and empirical Bayesian geometric mean (EBGM). Results A total of 16,677,289 AE reports were acquired from the FAERS database, and there were 2,620 AEs specifically reported in 720 patients following clomiphene use. The AEs encompassed 102 preferred terms (PTs) across 24 system organ classes (SOCs). Some new AEs were identified, including conjoined twins (0.5%), Potter’s syndrome (0.3%), genitalia external ambiguous (0.3%), esophageal atresia (0.6%), and anal atresia (0.3%). Conclusions Although the majority of AEs aligned with the drug instruction, some new AE signals such as conjoined twins and genitalia external ambiguous were not captured. Well-designed studies are required to demonstrate the safety of clomiphene.

Congenital eyelid imbrication syndrome: a rare occurrence in Pakistan

Congenital eyelid imbrication syndrome (CEIS) is a rare condition presenting at birth and is characterised by overriding of the upper lid on the lower lid. It is due to longer upper lid, than the lower lid. Overriding leads to spontaneous eversion of the upper lids. In our patient, examination revealed canthal tendon laxity and hyperaemia of the tarsal conjunctiva. All the rest of the structures in the eyeball and adnexa were normal. Spontaneous eversion occurred in two weeks as the upper lid grew with time. No treatment was required. Keywords: Congenital imbrication syndrome, Overriding upper lid, Hyperaemic conjunctiva, Floppy eyelids.

Prenatally Diagnosed Congenital High Airway Obstruction Syndrome: Perinatal Management and Outcome—A Single Tertiary Care Center Experience

AbstractTo report our experience with the management of prenatally diagnosed cases of congenital high airway obstruction syndrome (CHAOS) and the postnatal outcome of those who underwent an ex utero intrapartum treatment (EXIT) procedure. This is a single center, retrospective observational study of prenatally diagnosed CHAOS cases using two-dimensional ultrasound from December 2017 to December 2022 in a tertiary care facility. Of the total nine fetuses prenatally diagnosed with CHAOS, three (33.3%) were associated with multiple congenital anomalies, seven out of nine (77.8%) developed ascites, and one had fetal hydrops. Five (55.6%) underwent medical termination of pregnancy and two were lost to follow-up (22.2%). The remaining two continued pregnancy and required EXIT tracheostomy at the time of delivery (22.2%). Microarray was performed in both which was normal. Postnatally, both infants are tracheostomy dependent with one requiring frequent ventilator support. CHAOS even when isolated generally has poor prognosis without intervention. Performing an EXIT procedure at birth can significantly improve postnatal survival by minimizing hypoxic damage. However, the long-term medical and surgical challenges for survivors remain numerous especially speech disorders, even after lifesaving fetal intervention and surgical correction. Therefore, an accurate prenatal diagnosis is necessary to give the couple an option of continuing pregnancy after realistic counseling regarding the prognosis and postnatal outcome.

Evaluating the efficacy of pre-ablation algorithms in WPW syndrome localization: a retrospective study

Abstract Background and Objective Wolf-Parkinson-White (WPW) syndrome is a congenital condition that can be diagnosed at any age and may lead to dysrhythmias, most notably atrioventricular reentrant tachycardia (AVRT). Ablation of the accessory pathway responsible for the disorder has become a standard treatment approach. The success of ablation therapy is closely linked to accurately localizing the accessory pathway. Consequently, algorithms have been developed to predict the location of the accessory pathway using pre-ablation electrocardiography (ECG) parameters. This study aims to evaluate the predictive values of previously published algorithms. Method This study included 122 patients diagnosed with WPW syndrome who underwent successful ablation of a manifest accessory pathway at our university's cardiac electrophysiology laboratory between 2019 and 2023. We retrospectively examined these patients' baseline characteristics and their procedures' features. Additionally, a team analyzed their baseline electrocardiograms (ECGs) using the EASY-WPW, Pambrun, and St. George algorithms. The sensitivity, specificity, PPV, and NPV of these algorithms were then calculated based on the location of the accessory pathways identified during the patients’ ablation treatments. Results The median age of the patients in this study was 33 years (18 - 79). Among them, 65 patients (53.3%) were male (Table 1). Ablation treatment was conducted using a 3D mapping system for all included patients, considering only those who achieved acute procedural success for analysis. The most frequently observed accessory pathway localization was the posteroseptal region of the tricuspid annulus, found in 48 patients (39.3%). Regarding the accuracy of accessory pathway prediction, the EASY-WPW, Pambrun, and St. George algorithms demonstrated correct localization rates of 81%, 72%, and 62%, respectively. The efficacy of these predictions varied according to the specific localization of the accessory pathways (Table 2). Conclusion This study highlights the limitations of previously published algorithms in predicting the localization of accessory pathways in WPW syndrome. The notably lower success rates observed in our research, as compared to earlier studies, might be attributed to variations in how localization is defined across studies, differences in the interpretation of these algorithms by users, or evolving definitions of localization resulting from advancements in 3-dimensional mapping systems. Given these findings, there is a clear need for the development of new algorithms that incorporate current localization definitions and are validated in larger patient cohorts.

Hypoplastic and Congenital Absence of Coronary Arteries and Its Correlation with Clinical Implications of Cardiac Circulation: A Systematic Review and Meta-Analysis.

Background: Coronary arteries originate from the first portion of the aorta, emerging from the right and left aortic sinuses. They traverse through the subepicardium and coronary sulcus to supply the myocardium during diastolic function. The objective of this review was to understand how the hypoplasia and agenesis of the coronary arteries are associated with cardiac pathologies. Methods: The databases Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS were researched until January 2024. An assurance tool for anatomical studies (AQUA) was used to evaluate methodological quality. The pooled prevalence was estimated using a random effects model. Results: A total of three studies met the established selection criteria for inclusion in this meta-analysis. The prevalence of coronary artery variants was 3% (CI = 2% to 8%), with a heterogeneity of 77%. The other studies were analyzed descriptively, along with their respective clinical considerations in the presence of the variant. Conclusions: Hypoplasia and the congenital absence of the coronary arteries are often incidental findings and understanding these variants is crucial to prevent misdiagnosis. Additionally, it is essential to exercise caution when considering surgical management for hearts with these variants.

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by hypoventilation due to impaired breathing control by the central nervous system and other symptoms of autonomic dysfunction. Mutations in paired-like homeobox 2 B (PHOX2B) are responsible for most cases of CCHS. Patients with CCHS have various phenotypes and severities, making the diagnosis difficult. This study aimed to present a comprehensive single-center experience of patients with CCHS, including key clinical features, treatment strategies, and outcomes. A retrospective chart review was performed for patients diagnosed with CCHS between January 2001 and July 2023 at Seoul National University Children’s Hospital. Finally, we selected 24 patients and collected their demographic data, genotypes, ventilation methods, and clinical features related to autonomic dysfunction. The relationship between the clinical manifestations and genotypes was also examined. All patients used home ventilators, and tracheostomy was performed in 87.5% of patients. Fifteen (62.5%) patients had constipation and nine (37.5%) were diagnosed with Hirschsprung disease. Arrhythmia, endocrine dysfunction, and subclinical hypothyroidism were present in nine (37.5%), six patients (25.0%), and two patients (16.7%), respectively. A significant number of patients exhibited neurodevelopmental delays (19 patients, 79.2%). There was a correlation between the phenotype and genotype of PHOX2B in patients with CCHS. (r = 0.71, p < 0.001). Conclusion: There was a positive correlation between paired-like homeobox 2 B mutations (especially the number of GCN repeats in the polyalanine repeat mutations sequence) and clinical manifestations. This study also demonstrated how initial treatment for hypoventilation affects neurodevelopmental outcomes in patients with CCHS.What is Known:• Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation and dysfunction of autonomic nervous system.• The disease-defining gene of CCHS isPHOX2Bgene – most of the cases have heterozygous PARMs and the number of GCN triplets varies among the patients(20/24 – 20/33).What is New:• We have noted in the Korean patients with CCHS that there is a correlation between genotype (number of GCN repeats) and severity of phenotype.• National support for rare diseases allowed for a prompter diagnosis of patients with CCHS in Korean population.

Emergency right lower lobectomy for severe pulmonary abscess in a pregnant woman at the 25th week of gestation: a case report

BackgroundPulmonary abscess is a severe infection commonly seen in patients with chronic obstructive pulmonary disease, interstitial pneumonia, immune deficiency disease, drug-induced immunocompromised state, and congenital pulmonary disease. The treatment strategy in pregnant women with a pulmonary abscess is considered challenging since adverse effects on the fetus must be avoided to ensure safe delivery.Case presentationA 34-year-old female patient at 24 weeks of gestation (G2P1) was admitted to the Department of Obstetrics and Gynecology due to sudden right chest pain. The patient had no significant medical history, including congenital anomalies, and no history of drug addiction or smoking. Laboratory data indicated high levels of inflammation (white blood cell 12,000/µL, C-reactive protein 16.0 mg/dL), and computed tomography demonstrated a large intrapulmonary cyst located in the middle of the right lower lobe, with some fluid collection. As the patient had no medical history of congenital pulmonary anomalies, she was initially diagnosed with a pulmonary cyst infection and treated with intravenous antibiotics. However, the infection did not resolve for over a week, and a spike in fever developed after admission. There was no definitive evidence concerning the risk of preterm delivery and fetal abortion during non-obstetric surgery. However, to control the severely infected pulmonary abscess that was refractory to antibiotics and obtain a pathological diagnosis while saving the life of both the mother and fetus, we elected to perform an emergent right lower lobectomy by open thoracotomy with a fissureless maneuver after receiving informed consent. Postoperatively, the infection gradually improved, and the patient was discharged on the 16th postoperative day without any major complications in the mother or fetus. Although she later experienced coronavirus disease-19 at 29 weeks of gestation, a boy was born at 40th weeks of gestation without any complications. Pathologically, no infectious agents, malignancies, or congenital anomalies other than lung abscesses associated with the pulmonary infarction were observed. The mother and child were healthy 1 year postoperatively.ConclusionsWe experienced a rare case of a pulmonary abscess in a pregnant woman who needed an emergent right lower lobectomy to control the severe infection and obtain a correct pathological diagnosis. Under cooperation from an obstetrician and anesthesiologist, emergency pulmonary resection can be performed safely for serious abscess formation even for pregnant women who have several months left until delivery.

Anomalous origin of the coronary artery: prevalence and coronary artery disease in adults undergoing coronary tomographic angiography

BackgroundAnomalous aortic origin of a coronary artery (AAOCA) is a rare congenital coronary anomaly with the potential to cause adverse cardiac events. However, there is limited data on the association between AAOCA and coronary artery disease (CAD). Therefore, the aim of this study is to determine the prevalence and symptoms of patients with AAOCA, as well as investigate the correlation between AAOCA and CAD in a population referred for coronary computed tomographic angiography (CTA).Methods and resultsAll consecutive patients who underwent CTA from 2010 to 2021 were included. Characteristics, symptoms, coronary related adverse events and CTA information were reviewed by medical records. Separate multivariable cumulative logistic regressions were performed, using the stenosis severity in each of the four coronaries as individual responses and as a combined patient clustered response. Finally, we identified 207 adult patients with AAOCA, the prevalence of AAOCA is 0.23% (207/90,501). Moreover, this study found no significant association between AAOCA and CAD. AAOCA did not contribute to higher rates of hospitalization or adverse cardiac events, including calcification.ConclusionAAOCA is a rare congenital disease that is not associated with increased presence of obstructive CAD in adults.

Cost-Effectiveness of the Prenatal Detection of Congenital Heart Diseases: A Systematic Literature Review

Background: Congenital heart disease is the most common congenital condition worldwide, with a prevalence of 80 cases per 10 000 live births. In addition to perinatal morbidity and mortality, it entails long-term consequences such as multiple surgeries, prolonged hospitalizations, lifelong cardiac follow-up, reduced quality of life, risk of heart failure, and premature mortality in adulthood. This significant health and economic burden on healthcare systems and families highlights the relevance of evaluating the cost-effectiveness of methods for early detection of this condition. Objective: To conduct a systematic literature review (SLR) to identify and analyze existing economic evaluations on prenatal detection of congenital heart diseases through ultrasound, focusing on the reported cost-effectiveness results and the methodological quality of the evaluated studies according to established criteria. Methods: An SLR of economic evaluations was conducted following PRISMA guidelines. A quantitative synthesis of key methodological components of each economic evaluation was performed. The incremental medical costs, effectiveness measures, and cost-effectiveness ratios reported in each study were compiled and compared. The methodological quality was assessed according to compliance with the 24 CHEERS criteria. Results: We found 785 articles, of which only 7 met all inclusion criteria. Most were cost-effectiveness analyses, with the most common outcome being number of cases detected. Screening with only 4-chamber views interpreted by general practitioners or cardiologists were dominant strategies compared with screening with 4-chamber plus outflow views interpreted by a general practitioner. Fetal echocardiography was most effective but most expensive. Screening with 4-chamber and outflow view, followed by referral to a specialist, were recommended as the least expensive strategy per defect detected. On average, articles met 17 of the 24 CHEERS criteria. Discussion: While recent cost-effectiveness analyses demonstrated improved methodological quality, there was a lack of homogeneity due to differences in comparators and population subgroups analyzed. Despite this heterogeneity, fetal ultrasonography screening was consistently identified as a cost-effective strategy, with its cost-effectiveness heavily influenced by the expertise of the interpreting physician. Conclusion: Most studies recommend implementing obstetric ultrasonography screening, without routine fetal echocardiography, for detecting congenital heart diseases.

Cost-Effectiveness of the Prenatal Detection of Congenital Heart Diseases: A Systematic Literature Review.

Background: Congenital heart disease is the most common congenital condition worldwide, with a prevalence of 80 cases per 10 000 live births. In addition to perinatal morbidity and mortality, it entails long-term consequences such as multiple surgeries, prolonged hospitalizations, lifelong cardiac follow-up, reduced quality of life, risk of heart failure, and premature mortality in adulthood. This significant health and economic burden on healthcare systems and families highlights the relevance of evaluating the cost-effectiveness of methods for early detection of this condition. Objective: To conduct a systematic literature review (SLR) to identify and analyze existing economic evaluations on prenatal detection of congenital heart diseases through ultrasound, focusing on the reported cost-effectiveness results and the methodological quality of the evaluated studies according to established criteria. Methods: An SLR of economic evaluations was conducted following PRISMA guidelines. A quantitative synthesis of key methodological components of each economic evaluation was performed. The incremental medical costs, effectiveness measures, and cost-effectiveness ratios reported in each study were compiled and compared. The methodological quality was assessed according to compliance with the 24 CHEERS criteria. Results: We found 785 articles, of which only 7 met all inclusion criteria. Most were cost-effectiveness analyses, with the most common outcome being number of cases detected. Screening with only 4-chamber views interpreted by general practitioners or cardiologists were dominant strategies compared with screening with 4-chamber plus outflow views interpreted by a general practitioner. Fetal echocardiography was most effective but most expensive. Screening with 4-chamber and outflow view, followed by referral to a specialist, were recommended as the least expensive strategy per defect detected. On average, articles met 17 of the 24 CHEERS criteria. Discussion: While recent cost-effectiveness analyses demonstrated improved methodological quality, there was a lack of homogeneity due to differences in comparators and population subgroups analyzed. Despite this heterogeneity, fetal ultrasonography screening was consistently identified as a cost-effective strategy, with its cost-effectiveness heavily influenced by the expertise of the interpreting physician. Conclusion: Most studies recommend implementing obstetric ultrasonography screening, without routine fetal echocardiography, for detecting congenital heart diseases.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert "Bob" Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

Cost-utility analysis of prenatal diagnosis of congenital cardiac diseases using deep learning

BackgroundDeep learning (DL) is a new technology that can assist prenatal ultrasound (US) in the detection of congenital heart disease (CHD) at the prenatal stage. Hence, an economic-epidemiologic evaluation (aka Cost-Utility Analysis) is required to assist policymakers in deciding whether to adopt the new technology.MethodsThe incremental cost-utility ratios (CUR), of adding DL assisted ultrasound (DL-US) to the current provision of US plus pulse oximetry (POX), was calculated by building a spreadsheet model that integrated demographic, economic epidemiological, health service utilization, screening performance, survival and lifetime quality of life data based on the standard formula: CUR=Increase in Intervention Costs-Decrease in Treatment costsAverted QALY losses of adding DL to US&POX\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$${\\rm CUR} = \\frac{{\ ext{Increase in Intervention Costs}} - {\ ext{Decrease in Treatment costs}}}{{\ ext{Averted QALY losses of adding DL to US}} \\ \\& \\ {\\rm POX}}$$\\end{document} US screening data were based on real-world operational routine reports (as opposed to research studies). The DL screening cost of 145 USD was based on Israeli US costs plus 20.54 USD for reading and recording screens.ResultsThe addition of DL assisted US, which is associated with increased sensitivity (95% vs 58.1%), resulted in far fewer undiagnosed infants (16 vs 102 [or 2.9% vs 15.4%] of the 560 and 659 births, respectively). Adoption of DL-US will add 1,204 QALYs. with increased screening costs 22.5 million USD largely offset by decreased treatment costs (20.4 million USD). Therefore, the new DL-US technology is considered “very cost-effective”, costing only 1,720 USD per QALY. For most performance combinations (sensitivity > 80%, specificity > 90%), the adoption of DL-US is either cost effective or very cost effective. For specificities greater than 98% (with sensitivities above 94%), DL-US (& POX) is said to “dominate” US (& POX) by providing more QALYs at a lower cost.ConclusionOur exploratory CUA calculations indicate the feasibility of DL-US as being at least cost-effective.

Clinical characteristics of cystic encephalomalacia in children.

To investigate the primary causes and clinical characteristics of cystic encephalomalacia (CE) in children. The clinical data of 50 children who were admitted to our hospital due to CE between January 2008 and December 2020 were retrospectively reviewed. Their primary causes, clinical manifestations and cranial magnetic resonance imaging features were analyzed. Among all patients, 5 had prematurity, 19 had hypoxic-ischemic encephalopathy (HIE), 13 had intracranial infection, 14 had traumatic brain injury and hemorrhage, 4 had cerebral infarction, 2 had congenital genetic diseases, and 1 had hypoglycemia. The average time from primary disease onset to CE diagnosis was 70.1 ± 61.0 days. The clinical manifestations included speech or motor developmental delay (n = 33), epilepsy (n = 31), dystonia (n = 27), limb paralysis (n = 16), and visual or auditory impairment (n = 5). Patients with HIE as the primary cause of CE had a significantly higher occurrence of dystonia, while a significantly higher incidence of paralysis was observed in those with cerebral infarction as the primary cause. CE in children is mainly caused by HIE, intracranial infection, and cerebral hemorrhage. The major clinical manifestations included speech or motor developmental delay, epilepsy, and dystonia. Magnetic resonance imaging is an important tool for the diagnosis of CE.

Social determinants of gastrointestinal malformation mortality in Brazil: a national study

IntroductionIn Brazil, approximately 5% are born with a congenital disorder, potentially fatal without surgery. This study aims to evaluate the relationship between gastrointestinal congenital malformation (GICM) mortality, health indicators, and...

Analisis Media Flashcard Terhadap Kemampuan Komunikasi Anak Autis di SLB TNCC Banda Aceh

Children with special needs (ABK) are children who have obstacles in their development caused by internal and external factors. Autism is a congenital disorder that children experience from birth, where it affects the child's ability to communicate or speak, making it difficult for the child to communicate both verbally and non-verbally. Difficulty speaking experienced by autistic children hinders the child from interacting with people in the surrounding environment. Flashcard media is media that contains interesting and simple pictures that can help improve children's speaking skills. The aim of this research is to find out the influence of flashcard media on speaking abilities in autistic children. The type of research used in this research is descriptive qualitative. Data collection techniques in this research are observation, interviews and documentation. The subject in this research was an autistic child with the initials A, a 5 year old male. The research results show that using flashcard media can improve speaking skills in autistic children.

Nail Disease in a Nail Consultation at a Tertiary Referral Center: A 10-Year Retrospective Study

Introduction: The primary objective of this study was to determine the prevalence of nail diseases and its population in nail consultation. Methods: A retrospective study of clinical records between 2012 and 2022 was conducted. The 1,372 established diagnoses were categorized into nosological groups, which included physical signs, infectious diseases, dermatological diseases, systemic diseases, drug reactions, occupational disorders, congenital diseases, traumatic disorders, and tumors. Results: Overall, 1,239 records were enrolled, with 64% (n = 788) involving female patients. The median age was 50 years. In 71.5% of cases (n = 886), it was possible to establish an etiological diagnosis or a causative relationship based on physical findings, while 28% of patients (n = 347) presented nonspecific physical signs. Conclusion: Onychomycosis was the most prevalent diagnosis and revealed a descending trend over the 10-year period study.

Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report

BackgroundBosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in the world and no cases have been reported in Chinese population so far. Pathogenic variants in the SMCHD1 gene (MIM614982) cause BAMS, while the underlying molecular mechanisms requires further investigation.Case presentationIn this study, a Chinese girl who has suffered from congenital absence of nose and microphthalmia was enrolled and subsequently submitted to a comprehensive clinical and genetic evaluation. Whole-exome sequencing (WES) was employed to identify the genetic entity of thisgirl. A heterozygous pathogenic variant, NM_015295, c.1025G > C; p. (Trp342Ser) of SMCHD1 was identified. By performing very detailed physical and genetic examinations, the patient was diagnosed as BAMS.ConclusionThis report is the first description of a variant in SMCHD1 in a Chinese patient affected with BAMS.Our study not only furnished valuable genetic data for counseling of BAMS, but also confirmed the diagnosis of BAMS, which may help the management and prognosis for this patient.

Percutaneous Mitral Balloon Valvuloplasty in a Patient with Situs Inversus with Dextrocardia: A Case Report

Situs inversus with dextrocardia is a rare congenital disorder. There is a rare coincidence of rheumatic severe mitral stenosis in a patient with situs inversus and dextrocardia. Most of these patients undergo surgery due to technical difficulty, here we report a case of a 41-year-old male managed successfully with percutaneous intervention. Percutaneous mitral balloon valvuloplasty (PMBV) is feasible in these rare group patient with some additional modifications of the standard Accura balloon technique. Procedure should be carried out under Transthoracic echocardiography (TEE) guidance with surgical team standby in case emergency need of surgery. Despite all the precautions, careful watch on these patients has to be kept during immediate post procedure phase for at least 12 hours for any untoward complication.

A Case Report of Situs Inversus Totalis with Ventricular Septal Defect: Flipped Physiology

Dextrocardia with situs inversus (situs inversus totalis) is a rare congenital condition characterized by the abnormal positioning of the heart and other organs in the thoracic and abdominal cavities. When combined with a ventricular septal defect (VSD), it presents unique challenges in diagnosis and management. Here, we present a case report of a patient with dextrocardia, situs inversus, and a peri-membranous VSD, highlighting the diagnostic process and discussing available treatment options.

Application of Fetal Magnetic Resonance Imaging in Prognosis Assessment of Fetuses With Congenital Pulmonary Cystic Diseases

Application of Fetal Magnetic Resonance Imaging in Prognosis Assessment of Fetuses With Congenital Pulmonary Cystic Diseases