Rare Congenital Anomaly Research Articles

Prenatal diagnosis and perinatal clinical course of isolated left-sided innominate artery.

Isolated left-sided innominate artery, a rare congenital anomaly in which the left-sided innominate artery arises from the main pulmonary trunk, is usually diagnosed incidentally in children and adults. Limited reports exist on its prenatal diagnosis, with none comprehensively describing the associated perinatal haemodynamic changes. We report a case of prenatally diagnosed isolated left-sided innominate artery, describing the postnatal clinical course.

Factors associated with early postoperative mortality after total anomalous pulmonary venous connection repair: A retrospective cohort study.

Total anomalous pulmonary venous connection (TAPVC) is a rare congenital defect where pulmonary venous plexus fails to connect with the left atrium (LA). Surgical repair is the primary treatment for TAPVC, but factors influencing outcomes are not fully understood. This study investigates the early outcomes of surgical repair for TAPVC and associated factors. A retrospective cohort analysis was conducted on TAPVC patients who underwent surgical repair between 2012 and 2022. Data were collected from medical records and supplemented with phone call validation. Demographic characteristics, surgical data, diagnostic tests, and outcomes were analyzed. Statistical analysis included chi-square, t-tests, and multivariate logistic regression using SPSS. A total of 88 patients underwent surgical repair for TAPVC, resulting in a mortality rate of 21.6%. Weight and bypass time were significantly associated with patient survival. Female patients had a higher likelihood of death. The anatomic type did not significantly influence mortality. Patients with pulmonary venous obstruction (PVO) experienced a higher mortality rate. Notably, ligation of the vertical vein in supracardiac and infracardiac types was associated with lower mortality. In conclusion, our study identifies several key factors contributing to higher mortality rates following TAPVC surgery, including low weight, female gender, prolonged bypass time, and preoperative vein obstruction. Highlighting the significance of surgical technique, particularly the sutureless approach, we advocate for its meticulous consideration to achieve improved outcomes. Furthermore, our findings indicate a potential decrease in mortality associated with vertical vein ligation, which may mitigate the risk of post-repair heart failure. We suggest further rigorous studies to gain comprehensive insights into TAPVC surgical interventions.

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.

Proximal Femoral Focal Deficiency – An Uncommon Congenital Anomaly: Case Report and a Review of the Literature

Background: Proximal femoral focal deficiency (PFFD) is a rare congenital skeletal abnormality that may be associated with other bone defects. The incidence varies between 1 case per 50,000 people and 1 case per 200,000 people. PFFD is bilateral in 15% of cases [1]. In people with PFFD, the proximal femur is partially absent, but the distal femoral portion is always present, which serves to distinguish this phenomenon from the entire femoral deficiencies when the whole organs are usually shortened. Identifying these abnormalities on radiographs may aid in the management of these cases because early treatment may help ensure adequate femoral growth. This case report sheds light on this intriguing anomaly, offering an idea of the evaluation of Proximal Femoral Focal Deficiency.

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.

Anterior Sagittal Epispadias Urethral Duplicity: A Case Report

Urethral duplication is a rare congenital urological anomaly that can be detected incidentally or due to urinary symptoms in young patients. Symptoms may include recurrent urinary tract infections, dysuria, bifurcated urinary stream, urinary incontinence, and purulent discharge from the accessory meatus. The pathophysiology remains poorly understood, with various embryological theories proposed. Treatment typically involves surgical excision of the accessory urethra, especially in symptomatic cases. Urethral duplication is often associated with other malformations, and Effman's classification system categorizes it into three types based on the location of the accessory urethra. We present the case of a 4 years old boy with anterior sagittal epispadias urethral duplicity.

The Connection Between Anatomical Substrate and Clinical Severity in Fetal Ebstein Anomaly.

Ebstein anomaly (EA) is a rare congenital heart defect characterized by abnormal development of the tricuspid valve (TV) and right ventricular myocardium. This study documents 2 dramatic cases of fetal EA characterized by hydrops and cardiomegaly, leading to intrauterine or early neonatal death. These clinical outcomes were associated with morphological abnormalities including severe tricuspid regurgitation, unguarded TV orifice, pulmonary atresia, and flattened right ventricular myocardium. This study highlights that these adverse anatomical features may result in unfavorable clinical outcomes in fetal EA. While timely identification of such features by prenatal ultrasound is crucial for providing accurate prognostic stratification and guiding treatment decisions, fetopsy may be necessary to discern EA among the spectrum of right-heart anomalies.

A case of Mayer-Rokitansky-Kuster- Hauser syndrome type I

Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterised by absence of uterus and vagina. Ovaries and fallopian tubes are normal and functional. Its incidence is 1 in 4500-5000 female. Patients present with primary amenorrhea with normal external genitalia and development of secondary sexual characteristics, and 46XX karyotype. It is usually diagnosed by MRI, CT or transabdominal USG, with MRI being the gold standard.

Quadricuspid Aortic Valve: Two Asymptomatic Cases of Rare Anomaly

Quadricuspid aortic valve (QAV) is a rare congenital anomaly with <200 cases reported to date. Most patients are asymptomatic. Symptoms depend on the functionality of the valve and associated heart defects, most often presenting as aortic regurgitation followed by aortic stenosis. Management guidelines are ill-defined. We present two cases of QAV with rare associations (ventricular septal defect) and variable clinical presentation.

Giant Congenital Lobar Emphysema: A Rare Cause of Persistent Respiratory Distress in Neonatal Intensive Care

Congenital lobar emphysema (CLE) is a rare congenital anomaly of the lung causing excessive aeration of one or more lobes of a histologically normal lung. It manifests in the first weeks of life and rarely in the neonatal period, with respiratory distress due to compression atelectasis and often associated with mediastinal displacement. CLE poses a challenge in terms of diagnosis and positive pressure ventilation due to air trapping. We report the case of a newborn presenting with persistent respiratory distress. A thoracic CT scan was performed, confirming the diagnosis of CLE. The definitive diagnosis is provided by histology of the operative specimen, revealing emphysematous lesions. Treatment involves lobectomy after stabilization of respiratory function. Surgical abstention is possible for asymptomatic or paucisymptomatic lesions.

Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.

Generalized lymphatic anomaly (GLA) and kaposiform lymphangiomatosis (KLA) are rare congenital disorders that arise through anomalous embryogenesis of the lymphatic system. A somatic activating NRAS p.Q61R variant has been recently detected in GLA and KLA tissues, suggesting that the NRAS p.Q61R variant plays an important role in the development of these diseases. To address this role, we studied the effect of the NRAS p.Q61R variant in lymphatic endothelial cells (LECs) on the structure of the lymphatics during embryonic and postnatal lymphangiogenesis applying inducible, LEC-specific NRAS p.Q61R variant in mice. Lox-stop-Lox NrasQ61R mice were crossed with Prox1-CreERT2 mice expressing tamoxifen-inducible Cre recombinase specifically in LECs. Whole-mount immunostaining of embryonic back skin using an antibody against the LEC surface marker VEGFR3 showed considerably greater lymphatic vessel width in LEC-specific NRAS p.Q61R mutant embryos than in littermate controls. These mutant embryos also showed a significant reduction in the number of lymphatic vessel branches. Furthermore, immunofluorescence staining of whole-mount embryonic back skin using an antibody against the LEC-specific nuclear marker Prox1 showed a large increase in the number of LECs in LEC-specific NRAS p.Q61R mutants. In contrast, postnatal induction of the NRAS p.Q61R variant in LECs did not cause abnormal lymphatic vessel morphogenesis. These results suggest that the NRAS p.Q61R variant in LECs plays a role in development of lymphatic anomalies. While this model does not directly reflect the human pathology of GLA and KLA, there are overlapping features, suggesting that further study of this model may help in studying GLA and KLA mechanisms.

Images of Extremely Rare Cantrell Phenomenon.

We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant need for multimodality imaging to plan further management. The aim of the study was to present the thoracoabdominal syndrome using a three-dimensional computed tomography angiography. The CT scans confirmed complex intracardiac defects consisting of tetralogy of Fallot, total anomalous pulmonary venous return and persistent left superior vena cava. In conclusion, Cantrell syndrome necessitates a multidisciplinary approach, from the onset of the prenatal diagnosis followed by prompt medical imaging and surgical interventions after birth. The thoracoabdominal wall defect including complete ectopia cordis is an extremely rare disorder with a fatal outcome.

Role of Video Assisted Thoracoscopic Surgery (VATS) in the Management of Pulmonary Sequestration; A Meta-Analysis

Background: Pulmonary sequestration is a rare birth defect. It is a nonfunctioning dysplastic lung tissue without connection to the tracheobronchial tree, and its blood supply is from one or more aberrant systemic arteries. The aim of this study is to review the current literature regarding the role of video-assisted thoracic surgery (VATS) in the management of pulmonary sequestration. Objective: This review aims to assess the safety, efficacy, and outcomes of Video-Assisted Thoracoscopic Surgery (VATS) in managing pulmonary sequestration while considering patient characteristics, symptoms, arterial sources, surgical techniques, and postoperative advantages. Methods: The Web of Science, PubMed, MEDLINE, and Google Scholar were searched for articles published in English. Article titles containing the words “Video-Assisted Thoracoscopic Surgery for Pulmonary Sequestration and/or VATS” were filtered out of the search to exclude a large portion of irrelevant studies. The extracted data were analyzed. The data extracted were presented as frequencies and percentages. Results: After excluding the unrelated articles, 27 studies were identified for analysis; most of the studies (18) were case reports, with nine being case series, and the total number of patients who underwent pulmonary sequestration by VATS was 240. Both genders were equally affected (125, 52% were male and 115, 48% were female), the most common presenting symptom was coughing,and the descending thoracic aorta was the most common artery from which the feeders originated. About 149 patients (62.08%) underwent a lobectomy. Conclusion: Pulmonary sequestration can safely be treated by VATS at single or multiple ports with a shorter hospital stay, less postoperative pain, and fewer analgesic requirements.

(What's the story) morning glory? MRI findings in morning glory disc anomaly.

Morning glory disc anomaly (MGDA) is a rare congenital ophthalmologic disorder. Historically it has been diagnosed fundoscopically, with little in the literature regarding its imaging findings. The purpose of this study is to further characterize the orbital and associated intracranial magnetic resonance imaging (MRI) findings of MGDA in our tertiary pediatric center. A retrospective review was performed of fundoscopically-diagnosed cases of MGDA, that had been referred for MRI. All MRI studies were scrutinized for orbital and other intracranial abnormalities known to occur in association with MGDA. 18 of 19 cases of MGDA showed three characteristic MRI findings: funnel-shaped morphology of the posterior optic disc, abnormal soft tissue associated with the retrobulbar optic nerve, and effacement of adjacent subarachnoid spaces. The ipsilateral (intraorbital) optic nerve was larger in one patient and smaller in six. The ipsilateral optic chiasm was larger in two patients and smaller in one. This study represents a comprehensive radiological-led investigation into MGDA. It describes the most frequently-encountered MRI findings in MGDA and emphasizes the importance of MRI in this cohort, i.e., in distinguishing MGDA from other posterior globe abnormalities, in assessing the visual pathway, and in screening for associated intracranial abnormalities - skull base/cerebral, vascular, and facial. It hypothesizes neurocristopathy as an underlying cause of MGDA and its associations. Caliber abnormalities of the ipsilateral optic nerve and chiasm are a frequent finding in MGDA. Optic pathway enlargement should not be labeled "glioma". (239/250).

Structural Rhinoplasty as an Effective Surgical Approach for Frontonasal Dysplasia.

Frontonasal dysplasia (FND), a rare congenital craniofacial disorder, primarily influences the development of midline craniofacial structures. A notable manifestation of this condition is nasal hypoplasia. This report details the treatment of a 19-year-old male patient diagnosed with FND accompanied by a severe case of nasal hypoplasia. The authors used structural rhinoplasty to achieve total nasal reconstruction. Albeit with some minor sequelae, the outcome of this surgery was markedly positive, enhancing both the cosmetic appearance and functional capacity of the nose. This case underscores the effectiveness of structural rhinoplasty as a feasible therapeutic approach for individuals suffering from FND and its associated nasal hypoplasia.

Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report

BackgroundSirenomelia or sirenomelia sequence, also known as mermaid syndrome, is a rare congenital anomaly involving the caudal region of the body. The syndrome is characterized by partial or complete fusion of lower extremities, renal agenesis, absent urinary tract, ambiguous external genitalia, imperforate anus, and single umbilical artery. Sirenomelia is often associated with several visceral congenital malformations, rendering it invariably incompatible with extrauterine life.Case presentationWe present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns.ConclusionSirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.

A Case Series of Imaging Nuances of Persistent Craniopharyngeal Canal – Connecting the Pharynx to Brain!

A Case Series of Imaging Nuances of Persistent Craniopharyngeal Canal – Connecting the Pharynx to Brain!

Thyroiditis revealing a rare congenital anomaly: about 3 cases

Thyroiditis revealing a rare congenital anomaly: about 3 cases

Duplex kidney: An incidental autopsy finding of clinical and medico-legal significance.

Duplex kidney, a rare congenital anomaly characterised by dual urinary drainage from the kidney, is typically discovered incidentally, often during radiological imaging or autopsy procedures. We report a case of a 21-year-old male who died from injuries sustained in a road traffic accident. The autopsy examination showed an incidental finding of duplex kidney on the left side. We discuss the clinical and potential medico-legal significance of duplex kidney which also has implications in renal transplantation. Notably, the presence of duplex kidney can potentially serve as an identifier in forensic investigations, given its rare incidence.

Rare type of tracheal agenesis: Unexpected presentation and immediate consideration of emergent esophageal intubation in neonatal resuscitation program. Case reports and review of the literature.

Tracheal agenesis, or tracheal atresia, is a rare congenital anomaly. The presence of a tracheoesophageal fistula (TEF) can help with breathing for newborns with tracheal agenesis. In this article, we presented three unique cases and outcomes of neonates with tracheal agenesis along with a review of the literature. This study consisted of a single center case series followed by a review of literature. Case reports were generated using both written and electronic medical records from a single hospital. We summarized three unique cases and outcomes of neonates with tracheal agenesis and performed a review of the literature. We identified three cases of tracheal agenesis presented with severe cyanosis without spontaneous crying upon birth. Experienced pediatricians attempted to intubate the babies but were unsuccessful. Endotracheal tubes were subsequently either accidentally or purposely placed into the esophagus, and oxygen saturation levels improved. This suggested tracheal agenesis with TEF. Two cases underwent surgical intervention after resuscitation with esophageal intubation. Esophageal intubation may be a life-sustaining ventilation support for patients with tracheal agenesis and TEF at initial resuscitation. Clinicians should suspect tracheal agenesis when a newborn presents with severe cyanosis and voiceless crying upon birth, and esophageal intubation should be immediately attempted.