Myocardial Infarction and Complete Heart Block in a Patient With Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery (ALCAPA).

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital malformation. We present a case of an elderly patient with ALCAPA presenting with complete heart block and non-ST-elevation myocardial infarction years after diagnosis and surgical correction. An 81-year-old female with a history of ALCAPA presented to the emergency department with chest pain and progressive mental deterioration. She was bradycardic and hypotensive. An electrocardiogram revealed a complete heart block. Troponin was 4.04 ng/mL. She received atropine and underwent transcutaneous pacing. Left heart catheterization revealed complete occlusion of the mid-left circumflex artery, which was intervened with balloon angioplasty and chronic total occlusion of the right coronary artery. She was supported with temporary transvenous pacing, did not require further pacing support, and was discharged home. Previous records unearthed that in 1988 she had presented with syncope and was diagnosed with ALCAPA, filling from right-to-left collaterals with large and ectatic coronaries. At the time, she underwent surgical correction with excision of the left coronary from the pulmonary artery and reimplantation in the left coronary cusp along the posterior aorta. She had remained asymptomatic after her surgery until this presentation. ALCAPA is extremely rare in adults. Insufficient collaterals to the left ventricle cause inadequate blood supply, leading to ischemia in adults, predisposing them to arrhythmias and risk of sudden death. Adults with ALCAPA remain at increased risk of adverse cardiac events later in life, requiring long-term monitoring.

Computed tomographic anatomic variations of the phrenicoabdominal veins in cats.

There are no published reports describing the anatomic variations of the phrenicoabdominal (PhAbd) veins in cats. The aim of this study was to evaluate the anatomic variations of the PhAbd veins in cats without adrenal disease. This is an anatomic study. Abdominal CT images of cats acquired from January 2021 to February 2023 were retrospectively reviewed. Inclusion criteria were the presence of pre- and postcontrast CT images of the abdomen and the absence of any abdominal diseases that compromise the left and right PhAbd veins visualization. A total of 128 cats were included. Three different vascular anatomic variations were found in the distal pericaval segment of the left phrenicoabdominal (LPhAbd) vein. In the first type, found in 65 cases (50.8%), the LPhAbd vein drained directly into the caudal vena cava. In the second type defined IIa, found in 25 cases (19.5%), the LPhAbd vein drained into the distal third of the left renal vein, less than 5 mm from its opening into the caudal vena cava. In the third type defined IIb, found in 38 cases (29.7%), the LPhAbd vein drained into the distal third of the left renal vein, more than 5 mm from its opening into the caudal vena cava. The right phrenicoabdominal vein had a consistent path and drained into the caudal vena cava in all cases. The knowledge of these vascular variations is expected to help the surgeon during adrenalectomy due to masses with vascular invasion in cats.

Congenital anomalies in pregnancies with overt and pregestational type 2 diabetes: a gray portrayal from a cohort in Brazil.

OBJECTIVE: To describe the frequency and types of congenital anomalies and associated risk factors in Brazilian women with type 2 diabetes. METHODS: In this retrospective cohort study between 2005 and 2021, we included all pregnant participants with type 2 diabetes from the two major public hospitals in southern Brazil. We collected data from the electronic hospital records. Congenital anomalies were classified by the 10th revised International Classification of Diseases, Q chapter, enhanced by the EUROCAT registry classification, and categorized by type and gravity. We used multiple Poisson regression with robust estimates to estimate risks. RESULTS: Among 648 participants, we excluded 19, and 62 were lost to follow-up; therefore, we included 567 participants. Overt diabetes arose in 191 participants (33.7%, 95% CI 30.0% - 38.0%). Less than 20% of the participants supplemented folate. Congenital anomalies occurred in 78 neonates (13.8%, CI 11.0 - 16.9%), 73 babies (93.6%) presented major anomalies, and 20 (10.5%) cases occurred in participants with overt diabetes. Cardiac anomalies were the most frequent (43 isolated and 12 combined). Pre-eclampsia was associated with an increased risk in the analyses including all women (adjusted RR 1.87 (95% CI 1.23-2.85), p = 0.003), but not in analyses including only women with an HbA1c measured up to the 14th gestational age. HbA1c, either measured at any time in pregnancy (adjusted RR 1.21 (95% CI 1.10-1.33), p < 0.001) or up to the first 14 weeks (adjusted RR 1.22, 95% CI 1.10-1.35, p < 0.001) was the only sustained risk factor. Risk factors such as maternal age, obesity, diabetes diagnosis, or use of antidiabetic medications were not associated with congenital anomalies. CONCLUSION: We found a high frequency of congenital anomalies associated with poor maternal glycemic control and revealed an almost universal lack of preconception care. An urgent call to action is mandatory for the reversal of this gray scenario.

Late diagnosis of anorectal malformation: how good is good enough?

PURPOSE: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years. METHODS: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted. RESULTS: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented. CONCLUSION: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.

Evaluation of birth outcomes, congenital anomalies and neonatal complications of singletons born to infertile women treated with letrozole: A retrospective cohort study.

At present, safety of letrozole administration as an ovulation-inducing drug still remains controversial. Investigation of the safety of letrozole use for the induction of ovulation in the Chinese population is scant. The present study aimed to fill this gap. Data concerning mothers using letrozole and birth outcomes of their singleton offspring were collected as the letrozole group (n=194), equivalent data from mothers using non-letrozole drugs and their singleton offspring were included as the non-letrozole group (control, n=154). Birth outcomes, congenital anomalies and neonatal complications were compared and analyzed between the two groups. Univariate analysis, Spearman's rank correlation analysis and the logistic regression model were utilized. For birth outcomes, the percentage of caesarean section deliveries in the letrozole group was lower than the non-letrozole group (43.8 vs. 56.4%, P=0.019). For congenital anomalies, no significant difference was found between the two groups (all P>0.05). The statistical P-value for the correlation between the maternal use of letrozole and neonatal complications was marginal (P=0.051). Results from the logistic regression analysis confirmed that maternal use of letrozole was not a significant contributor for neonatal complications, independent of statistical adjustment [crude odds ratio (OR), 1.436; 95% confidence interval (CI), 0.803-2.569; P=0.223 vs. adjusted OR, 1.406; 95% CI, 0.748-2.643; P=0.290). The results of the present study suggested that maternal use of letrozole for ovulation induction does not associate with poorer birth outcomes or increased risk of congenital anomalies and neonatal complications.

Pregnancy outcomes after first-trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions.

Given the paucity of safety data on fluoroquinolone antibiotics in pregnancy, a prospective observational cohort study was conducted in pregnant women who sought help and advice on drug use at two teratology information institutes in Japan. The primary endpoint of the study was the incidence of major congenital anomalies. The study population included pregnant women exposed to (i) fluoroquinolones (fluoroquinolone group), (ii) ß-lactams (infectious control group), or (iii) other agents considered to be nonteratogenic in humans (nonteratogenic control group) during the first trimester. The frequency of major congenital anomalies was compared across groups using a logistic regression model that adjusted for maternal age, smoking status, drinking status, facility consulted, and time of consultation. The fluoroquinolone group consisted of 411 women who had 383 children born alive. The infectious control and nonteratogenic control groups consisted of 1416 and 1482 women who had 1322 and 1401 children born alive, respectively. The incidence of major congenital anomalies was 1.5%, 2.0%, and 1.6% in the fluoroquinolone group, infectious control, and nonteratogenic control groups, respectively. Logistic regression showed that fluoroquinolone exposure is not a significant risk factor for major congenital anomalies. In conclusion, first-trimester exposure to fluoroquinolone antibiotics was not associated with increased maternal or fetal risks.

Secondary pseudohypoaldosteronism: a 15-year experience and a literature review.

BACKGROUND: Secondary pseudohypoaldosteronism (S-PHA) is a rare condition resulting from renal tubular resistance to aldosterone in children with urinary tract infection (UTI) and/or nephrourological malformations. It is characterized by nonspecific symptoms but with the potential for life-threatening complications. We aim to evaluate the clinical manifestations, diagnostic approach, and therapeutic interventions in children with S-PHA, along with a review of recent publications. METHODS: A retrospective observational descriptive study was conducted on S-PHA cases diagnosed over the last 15 years at a tertiary pediatric nephrology unit. The literature for the last 10 years was reviewed. RESULTS: Twelve patients (10 males, 6 days to 6 months) were identified. Weight loss was the main reason for consultation (50%). Ninety-two percent of patients had an underlying nephrourological pathology and 62% concomitant confirmed UTI. Seven out of 12 children were admitted to the PICU. A subsequent extrapontine myelinolysis was observed in one patient as neurological sequelae. Twenty-one articles related to S-PHA have been identified on PubMed and Embase. CONCLUSIONS: S-PHA should be considered in infants under 6 months of age with UTI and/or CAKUT. Obstructive anomalies and vesicoureteral reflux can be found, affecting both unilateral and bilateral systems. Early medical and surgical interventions are crucial and require close monitoring to avoid iatrogenic complications.

Brachydactyly type B: a rare case report and literature review.

Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing third toe. Examination revealed a hypoplastic left third toe. X-rays confirmed the finding. Treatment options were discussed, including conservative therapy and follow up. Diagnosis involved history, examination, and imaging. Prenatal diagnosis is limited for isolated cases but useful for syndromic forms if a family mutation is known. Prognosis varies depending on the severity and associated syndromes. Currently there is no definitive treatment; management involves genetic counseling and therapy. Due to limited cases, Type B is underreported, highlighting the need for more research into its genetics.

Congenital ocular and its adnexal anomalies among Indian pediatric age groups.

An analysis of the congenital etiologies of ocular morbidity in children of age 0-12 years is of interest. Hence, this study was conducted over a period of 2 years from Jan 2021- Dec 2023 at RL Jalappa Hospital and Research center that is attached to Sri Devaraj Urs Medical College, Tamaka, Kolar, Karnataka, India. Out of 56 patients, 57% were male and 43% were female children. 31 (55%) of mothers belonged to age group between 20-30 years and 24 (43%) between 31-40 years and 1(2%) between 41-50 years. Out of 56 patients, 14 (25%) of them had positive family history. 34 (61%) of them had consanguious marriage. 14 parents (41%) out of 34 are married to second degree consanguinity (brother/sister/grandparent/grandchild) and 20 (59%) belonged to third degree consanguinity (aunt/uncle/niece/nephew/great-grandparent/great-grandchild). Bilateral involvement was seen in 31 (55%). Nasolacrimal duct anomalies were found to be the most common (32%) followed by congenital esotropia (14%). Education, awareness, counseling about risks of consanguinity and other risk factors such as maternal age, infections, medications during pregnancy, vaccination must be a routine practice in healthcare set up. This can significantly reduce morbidity and prevent blindness.

Mothers' Internet Journeys Through Social, Health Care, and Virtual Systems When Congenital Anomalies Are Diagnosed In Utero.

OBJECTIVE: To examine mothers' internet usage, in conjunction with social, health care, and virtual peer support navigations, when congenital anomalies were diagnosed in utero. DESIGN: Qualitative descriptive, consisting of semistructured interviews. SETTING: Interview data were collected over Zoom; mothers participated from locations of their choosing. PARTICIPANTS: Mothers of neonates discharged postoperatively from NICUs for uterine-diagnosed congenital anomalies. The sample was purposefully recruited from private Facebook groups for parents of children with congenital anomalies. INTERVENTION/MEASUREMENTS: Analysis was done with deductive coding using concepts from the third iteration of the systems engineering initiative for patient safety theory. The a priori codes were health care, social, journey-benefit, journey-risk, task, and technology. RESULTS: Twenty-two mothers signed up for an interview; 12 completed an interview, and 10 did not. The majority (n = 8, 66%) were White, had a bachelor's or graduate degree (n = 7, 58%) and were between 24 and 33 years of age (n = 8, 66%). Nine themes emerged: (a) Providers cautioned searching for diagnosis information but encouraged private Facebook groups for peer support, (b) Mothers' inquiries for their own care are lacking, (c) Search for information while recognizing parent-partner's coping differences, (d) Pace information from friends and family with patience and appreciation, (e) Manage inquiries from friends and family with group sharing, (f) Private Facebook groups provide a means of receiving and giving peer support, (g) Exposure to difficult stories on Facebook is a risk of stress, (h) Select a NICU, learn about their children's diagnoses, participate in virtual peer support, and (i) Device features frame search strategies. CONCLUSION: Mothers reflected on the internet as a burden and a source of support in their health care journeys. The ubiquity of internet access calls for mothers to include in their health care journeys the complexities of managing time spent on the internet.

A Rare Case Report of Limb Body Wall Complex.

Limb body wall complex (LBWC), also known as body stalk anomaly, is a rare and lethal disorder of the anterior abdominal wall. It is characterized by a severe combination of congenital malformations in the fetus, including, abdomino- and/or thoracoschisis, exencephaly/encephalocele, limb deformities, and facial clefts. Short umbilical cord, abdominal placental attachment, and spinal anomalies are among other manifestations of this disorder. The cause of LBWC is still unknown. The main hypotheses include embryonic dysplasia, early amniotic rupture, and vascular accident during embryonic development. We present a case of LBWC that was detected prenatally on ultrasound (USG) imaging and later confirmed postnatally in a Rh-negative mother at the menstrual age of 14 weeks.

Case report: persistent double dorsal aorta.

Persistent double dorsal aorta is an extremely rare congenital anomaly, with only 13 cases published to date. The objective of this study is to present this embryological variant as observed in the abdominal aorta of a patient. The anatomical description was written up on the basis of a review of electronic medical records and imaging exams. The patient in this case was an elderly 79-year-old man who presented at emergency with pain at rest in the left lower limb. He was admitted and laboratory tests and imaging exams were ordered. The variation was an imaging finding observed on angiotomography, consisting of complete separation of the abdominal aorta into two portions - a ventral and a dorsal, with different calibers - at the level of the third lumbar vertebra. There was also an anomalous origin of the inferior mesenteric artery.

The value of fetal magnetic resonance imaging in diagnosis of congenital anomalies of the fetal body: a systematic review and meta-analysis.

OBJECTIVES: To undertake a systematic review to assess the accuracy of fetal MRI in diagnosis of non-CNS congenital anomalies of the fetal body in comparison with antenatal ultrasound when correlated to postnatal diagnosis. METHODS: Searches were conducted from electronic databases, key journals and reference lists for eligible papers. Inclusion criteria was original research studies comparing the diagnostic results of antenatal ultrasound, fetal MRI and final postnatal diagnosis via imaging, surgery or post-mortem testing. Studies of CNS anomalies were excluded. Studies were assessed for risk of bias by two reviewers working independently and data was then extracted by a single reviewer. RESULTS: 12 studies were included with a total of 361 eligible patients who underwent USS and MRI and had a postnatal diagnosis. USS alone had a diagnostic accuracy of 60.6% whereas MRI had an improved diagnostic accuracy of 86.4%. The overall odds ratio was 0.86 (CI 0.202-1.519 and p-value < 0.01). CONCLUSION: Fetal MRI makes a significant contribution to accurate diagnosis of congenital abnormalities of the fetal body; especially in genito-urinary anomalies. More research is needed to improve the evidence base for the role of fetal MRI in diagnosis of congenital anomalies in other body systems.

Postaxial polydactyly of the bilateral hand in toddler: Case report and literature review.

Polydactyly is a common congenital malformation of the hand and foot characterized by an extra digit or duplication of digits. Polydactyly can present as preaxial, complex, or postaxial types. It has various presentations, and it can be an isolated anomaly or part of other diseases or syndromic conditions. Incidences are more common in European and Asian descent. The first line of treatment commonly practiced is surgery to create an aesthetically normal functioning hand. In this report, we present a case of bilateral hand polydactyly in a 2-year 6-month-old boy of Asian descent. No other abnormalities or malformations were observed elsewhere in his body. He is otherwise a healthy boy with no family history of malformations. The pattern is not consistent with any syndromic disease. He subsequently underwent surgical resection of the extra digits and a follow-up review showed normal function of the hands without contracture and other complications of the surgical site.

Gastroschisis and septo-optic-pituitary dysplasia: Is there an association?

AIM: There are several case reports describing patients with both optic nerve hypoplasia/septo-optic-pituitary dysplasia (ONH/SOD) and gastroschisis (GS). Our aim was to investigate whether ONH/SOD is associated with GS. METHODS: A retrospective population-based study was undertaken using the Population Research Data Repository at the Manitoba Center for Health Policy in Manitoba, Canada to investigate if any patient with ONH/SOD also had GS. In addition, Winnipeg's Surgical Database of Outcomes and Management (WiSDOM), a hospital-based paediatric surgical database, was searched to ascertain if any of the patients with GS also have ONH/SOD. RESULTS: Cases were 124 patients with ONH/SOD diagnosed during 1990-2019. None had GS. The surgical database had 188 patients from Manitoba with GS during 1991-2019. None had ONH/SOD. CONCLUSION: There does not appear to be an association between ONH/SOD and GS in our cohorts of patients with these two disorders.

Safety profiles of offspring born from early-follicular long-acting GnRH agonist protocol and daily mid-luteal GnRH agonist protocol: a retrospective study.

BACKGROUND: The gonadotropin hormone-releasing hormone agonists (GnRH-a) have been widely used for controlled ovarian stimulation in assisted reproductive technology (ART). The early-follicular long-acting GnRH-a long protocol (EFL) and the luteal phase short-acting GnRH-a long protocol (LPS) are commonly used GnRH agonist protocols. We conducted a retrospective analysis to assess and compare the rates of congenital abnormalities and safety profiles in offspring born from the EFL and LPS protocols. METHODS: We conducted a retrospective cohort study to analyze and compare neonatal data from patients who using EFL or LPS protocols at our center between January 1, 2014, and June 30, 2017. The study ultimately included 1810 neonates from 1401 cycles using the EFL protocol and 2700 neonates from 2129 cycles using the LPS protocol.The main outcome measures are gestational age at delivery, birth weight, and congenital anomaly rate.To assess the influence of various factors on congenital abnormalities, a random-effects logistic regression model was employed. RESULTS: The EFL and LPS protocols led to similar congenital anomaly rates (1.64% vs. 2.35%, P = 0.149). No significant differences were found between the two groups regarding birth weight and its categories, newborn gender and congenital anomaly rate. The results of the multivariate logistic regression model indicated no association between congenital anomaly and BMI, duration of infertility, treatment protocol, fertilization method, or embryo transfer stage. Compared with singleton pregnancies, the probability of congenital defects in multiple pregnancies was 2.64 times higher (OR: 2.64, 95% CI: 1.72-4.05, P < 0.0001). Newborns with congenital defects were born with a lower gestational age compared with full-term pregnancies. CONCLUSION: In conclusion, the EFL protocol is considered a safe option for ensuring offspring safety, comparable with the LPS protocol; however, multiple pregnancies represent an independent risk factor for congenital abnormalities. This approach can be widely adopted; however, prioritizing single embryo transfers is strongly recommended to minimize the potential risks associated with multiple pregnancies in offspring.

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.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

The retrocaval ureter - A rare developmental cause for urinary tract obstruction.

Retrocaval ureter is a rare congenital anomaly with few reported cases worldwide. In this case report, we describe a clinical presentation that demonstrates the stereotypical imaging features of a retrocaval ureter on ultrasound, computed tomography and nuclear imaging studies in a 38-year-old male patient who fits the classic reported patient demographics.

Prevalence and Patterns of Congenital Heart Defects and Other Major Non-Syndromic Congenital Anomalies Among Down Syndrome Patients: A Retrospective Study.

Background: Children with DS are at higher risk of developing congenital anomalies, particularly cardiac anomalies. Methods: Medical records of 502 DS patients were reviewed. The logistic regression analyses were performed to determine independent predictors. Results: Of the total 502 study subjects, 53.4% were males. Only 1.4% of the DS case diagnosis were confirmed by karyotyping. All cases were diagnosed postnatally. The median age at DS diagnosis was 5 months. About 13% were born preterm; 50.2% of the subjects maternal age at conception were thirty-five years and above. Over three-quarters (75.1%) had at least one structural congenital anomaly. Multiple anomalies were diagnosed in 12.8% of the subjects. At least one cardiac congenital anomaly was diagnosed in 67.3% of the study subjects, and 32.8% of them were diagnosed with multiple cardiac anomalies. Patent ductus arteriosus (28.5%), Ventricular septal defect (23.2%), and AVSD (21.9%) were the three common lesions. At least one genitourinary system anomaly was identified in 32 (6.4%) of them. Roughly, 8% of study participants exhibited congenital anomaly of the head, eye, nose, and throat. Anorectal malformation was found as the most common gastrointestinal anomaly. Maternal age at conception was found as independent predictor for presence of structural congenital anomaly (AOR 2.59; 95% CI 1.58-4.23, p-value < 0.01). Advanced maternal age is also found increasing the risk of developing congenital heart defect (AOR 2.37; 95% CI 1.52-3.7, p-value < 0.01). Conclusion: High prevalence of congenital anomalies has been noted in the current study compared to previous studies. Predictive factors increasing risk of congenital anomalies in DS patients have been identified. The current findings may help in developing strategies and more targeted preventive and therapeutic interventions.

A Rare Presentation of Myocardial Bridging With Heart Failure Symptoms.

Myocardial bridging is an under-recognized cause of angina. This congenital anomaly occurs when a segment of the epicardial coronary artery has a short intra-myocardial course. A significant intra-myocardial course may lead to ischemia, causing anginal symptoms. In this case report, we discuss a rare presentation of myocardial bridging with symptoms of heart failure. The pathology led to a marked degree of ventricular dysfunction and a significant drop in cardiac output (CO), and the patient had severe exertional dyspnea and functional limitations. The ischemic workup with diagnostic imaging and angiograms failed to explain the severity of symptoms, which were only evident in hemodynamic studies and cardiopulmonary exercise testing.