Anomalies In Adults Research Articles

Congenital Lung Anomalies in Adults.

Congenital lung anomaly (CLA) refers to a rare group of malformations that are typically identified prenatally or in early childhood. However, a significant proportion of cases evade detection until adulthood and either are incidentally discovered or manifest with symptoms of recurrent respiratory infection or pulmonary hemorrhage. While most CLAs have characteristic imaging findings at CT and MRI, they remain a diagnostic challenge due to the infrequency with which they are encountered in adults. Radiologists frequently play a pivotal role in suggesting the diagnosis and guiding appropriate management strategies, and recognition of characteristic imaging patterns is crucial for accurate diagnosis. The authors examine the imaging appearances and clinical manifestations in adult patients with CLA, with a focus on patients who have bronchopulmonary involvement and those with combined bronchopulmonary and vascular anomalies. Entities discussed include bronchogenic cyst, bronchial atresia, congenital lobar overinflation, congenital pulmonary airway malformation, proximal interruption of the pulmonary artery, bronchopulmonary sequestration, hypogenetic lung syndrome, placental transmogrification of the lung, and hybrid lesions. Common complications that may arise in these patients are discussed and illustrated. ©RSNA, 2024 Supplemental material is available for this article.

Bicuspid Aortic Valve Disease: From Pathophysiology to Treatment.

The Bicuspid Aortic Valve (BAV) is the most common congenital anomaly in adults, with a global incidence of 1.3%. Despite being well documented, BAV presents significant clinical challenges due to its phenotypic heterogeneity, diverse clinical manifestations, and variable outcomes. Pathophysiologically, BAV differs from tricuspid valves in calcification patterns and hemodynamic effects, leading to increased shear stress and aortic root dilatation, while it is influenced by genetic and hemodynamic factors. This is why therapeutically, BAV presents challenges for both surgical and transcatheter interventions, with surgical approaches being traditionally preferred, especially when aortopathy is present. However, transcatheter aortic valve implantation (TAVI) has emerged as a viable option, with studies showing comparable outcomes to surgery in selected patients, while advancements in TAVI and a better understanding of BAV's genetic and pathophysiological nuances are expanding treatment options. The choice between mechanical and bioprosthetic valves also presents considerations, particularly regarding long-term durability and the need for anticoagulation. Future research should focus on long-term registries and genetic studies to refine therapeutic strategies and improve patient outcomes. This review aims to evaluate current approaches in the surgical and interventional management of BAV, focusing on its anatomy, pathogenesis, pathophysiology, and therapeutic strategies.

Endoscopic Dyeing and Plasma Coblation-Assisted Open Neck Surgery for Pyriform Fossa Branchial Apparatus Anomalies in Adults.

Objective: Pyriform fossa (PF) branchial apparatus anomalies (PFBAA) are rare congenital third or fourth branchial apparatus anomalies (TBAA or FBAA). This article summarizes our paradigm in managing this condition by combining endoscopic procedures and open neck surgery. Methods: A retrospective review was undertaken concerning PFBAA cases treated at our tertiary medical institution between July 2020 and November 2023. Data were collected from case records. Three sequential steps were implemented: (1) direct laryngoscopy to identify internal orifice (IO), with injection of methylene blue into it; (2) open neck surgery to resect all inflammatory tissues, focusing on the ligation of the sinus tract out of PF; and (3) plasma coblation of IO mucosa. Results: In total, 7 cases (4 men and 3 women) were included (28-67 years old, median age 53). Presenting symptoms were various, with 6 lesions on the left and 1 on the right side. Preoperative (PO) fiberoptic laryngoscopy identified IO in 6 patients, while PO barium esophageal study identified outflow from PF in 4 patients. A preliminary diagnosis of PFBAA could be established in all cases (2 TBAA and 5 FBAA cases). Direct laryngoscopy after general anesthesia identified IO in all cases (2 on the base of PF and 5 on the apex of PF). All the surgical procedures were successful, with uneventful recovery in all the patients. No postoperative complications were observed. All the patients resumed oral fluid intake after confirmation of no pharyngeal fistula by barium esophageal study on the seventh postoperative day. The duration of follow-up was between 6 and 40 months (with a median duration of 27 months). No recurrence was observed. Conclusion: Open neck surgery, assisted by endoscopic dyeing of sinus tracts and plasma coblation of IO mucosa, is a suitable treatment for PFBAA in adults. This paradigm is effective and safe for senior surgeons.

A novel birnavirus identified as the causative agent of summer atrophy of pearl oyster (Pinctada fucata (Gould)).

The Akoya pearl oyster (Pinctada fucata (Gould)) is the most important species for pearl cultivation in Japan. Mass mortality of 0-year-old juvenile oysters and anomalies in adults, known as summer atrophy, have been observed in major pearl farming areas during the season when seawater temperatures exceed about 20 °C since 2019. In this study, we identified a novel birnavirus as the pathogen of summer atrophy and named it Pinctada birnavirus (PiBV). PiBV was first presumed to be the causative agent when it was detected specifically and frequently in the infected oysters in a comparative metatranscriptomics of experimentally infected and healthy pearl oysters. Subsequently, the symptoms of summer atrophy were reproduced by infection tests using purified PiBV. Infection of juvenile oysters with PiBV resulted in an increase in the PiBV genome followed by the atrophy of soft body and subsequent mortality. Immunostaining with a mouse antiserum against a recombinant PiBV protein showed that the virus antigen was localized mainly in the epithelial cells on the outer surface of the mantle. Although the phylogenetic analysis using maximum likelihood method placed PiBV at the root of the genus Entomobirnavirus, the identity of the bi-segmented, genomic RNA to that of known birnaviruses at the full-length amino acid level was low, suggesting that PiBV forms a new genus. The discovery of PiBV will be the basis for research to control this emerging disease.

Hepatic Colic outside Lithiasis: Which Diagnosis?

The vesicular diaphragm is a very rare and unrecognized malformation due to an anomaly in the embryogenesis of the gallbladder. This malformation represents 0.1% of gallbladder anomalies in adults. It can remain asymptomatic for a long time and be discovered incidentally or be revealed by chronic abdominal pain or by a complication. We report the observation of a 21-year-old woman who presented with chronic hepatic colic. Morphological examinations concluded an uncomplicated vesicular diaphragm. Laparoscopic cholecystectomy was performed. Intraoperative findings by opening the cholecystectomy specimen confirmed the diagnosis of a diaphragmatic gallbladder. In this document, we recall the clinical and radiological aspects characterizing this very rare anomaly.

Study on the Effect of Three-dimensional Reconstruction Technique Based on Human Gait Plantar Transient Data on Rehabilitation of Patients with Abnormal Foot Arch

This research employs non-contact plantar 3D data scanning and gait analysis methodologies to establish a rehabilitation assistance system tailored for foot arch anomalies. The system utilizes a non-contact plantar 3D data model to mitigate dysfunctions within the plantar skeletal-muscular system. Its objectives include facilitating personalized remote diagnosis of foot arch anomalies, enabling patients to monitor their rehabilitation progress, and supporting at-home rehabilitation efforts. A dataset comprising 124 cases of physiological foot arch anomalies in adults aged 18 and above was collected and analyzed. The findings demonstrate the system’s flexibility, high spatial resolution, personalization, and innovation. Notably, the system achieves real-time measurement of positive pressure and shear force distribution at the plantar interface, facilitates the construction of accurate geometric models, and yields high-quality plantar three-dimensional coordinate data. This research contributes theoretical and technical underpinnings for the application of footwork anomaly diagnosis and correction.

MIDLINE BRAIN STRUCTURES IN ADULT NIEMANN-PICK TYPE C DISEASE: A CROSS-SECTIONAL STUDY.

A range of neuropathological changes occur in the brains of individuals with adult Niemann-Pick type C disease (NPC), a recessive disorder of cholesterol trafficking that results in in accumulation of cholesterol and gangliosides in lysosomes, particularly in neurons. One of the most significant regions of grey matter loss occurs in the thalami, which abut the midline. What is not known is whether these are neurodevelopmental in origin well prior to symptomatic onset. We aimed to examine other markers of midline developmental anomalies in adults with NPC. We examined the size of adhesio interthalamica (AI) and cavum septum pellucidum (CSP) (if present) in 9 individuals diagnosed with NPC and 9 healthy comparison subjects, matched for age and gender, using a 3T magnetic resonance volumetric sequence and measured the length of the AI and CSP in mm. We found that 5/9 NPC patients and 0/9 controls had a missing AI. AI length was significantly shorter in the patient group. No subject in other group had a large CSP, and CSP length did not differ. Duration of illness showed a trend to a negative correlation with AI length in patients. Our findings suggest that adult NPC patients show some markers of early neurodevelopmental disturbance, matching findings seen in psychotic disorders. The differences in AI, but not CSP, suggest neurodevelopmental change may occur early in gestation rather than post-partum. The relationship with duration of illness suggests that there may be atrophy over time in these structures, consistent with prior analyses of grey matter regions in NPC.

Surgical Management of Ebstein’s Anomaly in Adults

Ebstein’s anomaly is a rare congenital anomaly of the tricuspid valve, which presents challenges to cardiac surgeons due to the spectrum of anatomical variation of the disease and the technical difficulty of valve repair. Given the evolving surgical techniques being implemented in repair, a review of regional results for surgery in Ebstein’s anomaly is important. This study aimed review surgical techniques being used in the management of Ebstein’s anomaly in adult patients and the outcomes of patients undergoing tricuspid valve repair, including the Cone repair, and tricuspid valve replacement for Ebstein’s anomaly in Australia and New Zealand. Outcome measures include postoperative survival and freedom from reoperation.

Short-Term and Long-Term Complications Associated with Posterior Fossa Decompression for Chiari Malformation.

Surgery is the treatment of choice for symptomatic patients with Chiari anomalies Although the surgical treatment of Chiari anomalies in adults is a straightforward procedure, complications and less than satisfactory outcomes do occur. Understanding these complications is important for correcting the problem as well as preventing the recurrence of similar problems. In this article, the author review the short-term and long-term complications associated with posterior fossa decompression for Chiari malformation.

Unicuspid Aortic Valve, an Extremely Rare Congenital Anomaly in Adults: A Literature Review

Unicuspid Aortic Valve, an Extremely Rare Congenital Anomaly in Adults: A Literature Review

Choledochal anomalies in adults: A 20-year single-center retrospective cohort experience in the Middle East

Background and study aimsCholedochal cysts are rare congenital cystic dilatations of the bile ducts that occur in fewer than 1% of individuals. The disease is common in East Asia, and most of the literature concerns those populations, but some data about Western populations have been published recently. Long-term reports about the disease in Middle Eastern populations, however, are currently lacking. We report a single-center 20-year experience in diagnosing and managing choledochal anomalies. Patients and methodsParticipants were adult patients in whom choledochal cysts were diagnosed over a 20-year (2000–2019) period at a single tertiary academic care center. Clinical data, including radiologic imaging findings, were retrieved from the patients’ medical records. To describe the baseline characteristics of the population, we calculated descriptive statistics. ResultsCholedochal anomalies were diagnosed in 19 adult patients, whose median age was 30 years (interquartile range [IQR], 23–67 years). Of the choledochal cysts 13 (68.4%) were classified as Todani type I, 4 (21.1%) as Todani type IV, and 3 (15.8%) as Todani type V (Caroli’s disease). No patient had underlying chronic liver disease, and liver synthetic function was preserved in all. Eighteen patients (94.7%) underwent surgery: cyst excision with Roux-en-Y hepaticojejunostomy in 17 and liver transplantation in 1. All 18 survived surgery, and the median postoperative hospital stay was 11 days (IQR, 5–34 days). All 18 were alive 90 days after surgery, and the median follow-up period was 40 months (IQR, 12–140 months). Seven patients (36.8%) developed postoperative surgical complications; 2 patients required rehospitalization, and 1 required reoperation. ConclusionThis description of adults with choledochal cysts is the latest long-term report about this disease in the Middle East. In our 20-year experience, the disease characteristics in our patients were moderately consistent with those described previously.

Robotic atrial septal defect closure with valved pericardial patch in a pulmonary hypertensive patient

Atrial septal defect (ASD) is the most common congenital anomaly in adults after bicuspid aortic valve. Atrial septal defect closure should be carefully considered in the setting of elevated pulmonary artery systolic pressure. Patients with borderline pulmonary vascular resistance may be candidates for closure with careful hemodynamic evaluation, even after pulmonary hypertension therapy. Herein, we present the surgical closure of the ASD with a valved pericardial patch after medical therapy for pulmonary hypertension via the da Vinci robotic system in a 30-year-old female patient.

UNUSUAL BEGINNINGS: A CASE OF ABERRANT CORONARY ARTERY ANATOMY

UNUSUAL BEGINNINGS: A CASE OF ABERRANT CORONARY ARTERY ANATOMY

A Rare Case of ALCAPA in Adult Asymptomatic Patient and Unusual Collateral Circulation: A Case Report

Anomalous Origin of the Left Coronary Artery from Pulmonary Artery (ALCAPA) syndrome is a rare congenital anomaly where the left main coronary artery arises from the pulmonary artery (PA) and the right coronary artery (RCA) originates normally from the aorta. The rapid decrease in pulmonary vascular resistance (PVR) soon after birth reverses the blood flow to the PA resulting in a left to right shunt and severe left ventricle (LV) ischemia. Left untreated, this congenital anomaly is associated with premature death. Rarely, some patients can survive to adult age due to development of collateral circulation usually from an ecstatic RCA. Most adult patients with ALCAPA die at mean age of 35 years. Very few cases were reported in the literature to survive until late 40s or 50s. We present the case of ALCAPA in an asymptomatic 54-year-old woman who found to have unusual collateral circulation justifying the absence of significant symptoms. Our patient underwent surgical correction with good results. We also review cases of ALCAPA that has been reported in the literature and we summarize treatment strategies. Learning objective: recognition of ALCAPA as one of coronary anomalies in adults even in asymptomatic individuals and recognition of the best diagnostic modality and the optimal management according to available literature.

Peripheral vascular lesions in adults referred to MRI/MRA: Multivariable analysis of imaging features to help differentiate benign vascular anomalies from malignancies

PurposeSymptomatic peripheral vascular lesions in adults are often clinically diagnosed as benign vascular anomalies and may receive MRI/MRA for pre-treatment vascular mapping. Malignant neoplasms are difficult to distinguish from benign vascular anomalies on MRI/MRA. This study was performed to determine if there are imaging signs that can distinguish malignancies from benign vascular anomalies in adults imaged with MRI/MRA. Materials and methodsA radiology database was retrospectively searched for ISSVA classification terms in MRI/MRA reports from 1/1/2002–1/1/2019. Adult patients (n = 50, 52 corresponding lesions) with contrast-enhanced MRI/MRA, peripheral soft tissue based lesion (s), and available pathology or long-term (>1 year) imaging follow-up were included. MRI/MRA images were reviewed by 3 readers for the following lesional characteristics: morphology (marginal lobulation, internal septations, distinct soft tissue mass), peri-articular location, T2-weighted characteristics (hyperintensity, heterogeneity, perilesional edema, and adjacent triangular T2-peaks), bulk fat, hemorrhage, enhancement pattern (peripheral, diffuse, or absent), neovascularity, low-flow venous malformation type enhancement, arterial enhancement within 6 s, enhancement curve (progressive, plateau, or washout), measured size, and multifocality. The MRI/MRA features' associated sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated. To identify factors predictive of malignancy, a two-stage multivariable analysis was performed. Results23% (12/52) of the lesions, corresponding to 22% (11/50) of the patients, were malignant neoplasms. No single imaging feature reliably predicted malignancy (PPV ≤ 60%). Absence of distinct soft tissue mass excluded malignancy (NPV 100%). Multivariate analysis derived a summary score based on the five strongest predictors of malignancy: adjacent T2 peaks, age ≥ 70 years, distinct soft tissue mass, lesion size ≥ 5 cm, and absence of septations. A score ≥ 3 resulted in sensitivity of 92% and specificity of 85%. ConclusionExtremity MRI/MRA rarely differentiates malignant from benign soft-tissue vascular tumors in adults. However, MRI/MRA can suggest malignancy when patient age and multiple imaging features are considered. Periodic clinical follow-up after the planned endovascular or operative procedure should be performed to avoid missing a malignancy.

Abnormal morphology in Amblyomma coelebs and Amblyomma cf. oblongoguttatum (Acari: Ixodidae) collected on free-roaming Central American Tapir (Tapirus bairdii) from Nicaragua

In this work we describe abnormalities in Amblyomma coelebs and Amblyomma cf. oblongoguttatum adults collected from Tapirus bairdii. The observed anomalies in adults corresponded to general (asymmetry of scutum and idiosoma), and local malformation (atrophy and ectromely). This is the first record of morphological anomalies in A. coelebs and also it increases the observations of malformations in ticks from Nicaragua and Central America.

Mass mortality of pearl oyster (Pinctada fucata (Gould)) in Japan in 2019 and 2020 is caused by an unidentified infectious agent.

Mass mortality of 0-year-old pearl oysters, Pinctada fucata (Gould), and anomalies in adults were observed in Japan’s major pearl farming areas in the summer of 2019 and 2020. Although adult oyster mortality was low, both adult and juvenile oysters underwent atrophy of the soft body, detachment of the mantle from nacre (the shiny inner surface of the valves), deposition of brownish material on the nacre, and loss of nacre luster. Infection trials were conducted to verify the involvement of pathogens in this phenomenon. Healthy adult pearl oysters were obtained from areas where this disease had not occurred to use as the recipients. The sources of infection were either affected adult oysters with atrophied soft bodies or batches of juveniles in which mortality had reached conspicuous levels. Transmission of the disease to the healthy oysters were tested either by cohabitation with affected oysters or by injections of the hemolymph of affected animals. The injection infection test examined the effects of filtration and chloroform exposure on the pathogen. Occurrence of the disease was confirmed by the appearance of brown deposits on the nacre and loss of nacre luster. The abnormalities of nacre were clearly reproduced in recipient shells in three out of four cohabitation trials with affected oysters. The disease was also reproduced in six out of six injection trails either with hemolymph filtered through 100 nm filter or with hemolymph treated with chloroform. In a serial passage with hemolymph injections, the disease was successfully transmitted through eight passages. These results suggest that the etiology of the disease is a non-enveloped virus with a diameter ≤100 nm.

Role of magnetic imaging resonance imaging in ebstein anomaly

Abstract: Background: Ebstein’s anomaly is an uncommon clinical syndrome accounting for approximately 0.5% of congenital heart disease(CHD) patients. It is defined as a congenital displacement of the posterior and septal leaflets of the tricuspid valve towards the right ventricular apex whichresults in atrialization of a part of the right ventricle. Aim andobjectives: Review the pathological spectrum of Ebstein´s Anomaly inadults, illustrate by MR the morphologic aspects of EA. Discuss MR Findings of right ventricular overload including right ventricular dimension, paradoxical ventricular septal motion.Emphasize the role of MR in the assessment of ventricular and valvular function. Demonstrate the use of delayed contrast-enhanced MR to rule out segments of myocardial dysplasia, Subjects and Methods: The present study involved twenty patients who were previously diagnosed for assessment and treatment of Ebstein anomaly . The clinical records and surgical details of all identified patients were examined, and Participants were selected from the outpatients in National Heart Institute, Giza, Egypt. Results: results of the study revealed that Ebstein`S anomaly severely affecting tricuspid regurge since 75% of patients (15 of 20) were affected while only one patient (5%) suffered of mild regurge and four patients (20%) suffered of moderate regurge, Conclusion: The diagnosis of Ebstein's anomaly is usually based on echo findings; however, cardiac magnetic resonance imaging(CMR) can add useful information enabling a detailed visualization of cardiac abnormality, as well as a method of accurate physiological evaluation. CMR, in conjunctionwith echocardiography,offers a comprehensive non-invasive evaluation either for surgical management or ongoing follow-up of these patients.

Diagnosis and prognostic significance of anomalous origin of coronary artery from the opposite sinus of Valsalva assess by dual-source coronary computed tomography angiography.

BackgroundClinically recognized coronary anomalies in adults are infrequent and characteristically establish on autopsy. The clinical importance coronary arteries consist of those with anomalous origin of the coronary artery from the opposite sinus of Valsalva (ACAOS) with an inter-arterial course (IAC). We have endeavored to attribute variable risk based on morphological appearances of the ACAOS by dual-source coronary computed tomography angiography (DSCTA).Material and methodsACAOS patients who undergoing DSCTA over a 5-year period were identified and assess morphologic characteristics. Medical records were reviewed for major adverse cardiovascular events (MACEs).ResultsA total of 1126 patients who undergoing DSCTA were evaluated. Twenty-four patients with ACAOS with IAC were recognized with a prevalence of 2.1% of study population. Twenty patients had anomalous origin of right coronary artery from left sinus of Valsalva (RCA-LSV) and 4 patients had anomalous origin of left coronary from right sinus of Valsalva (LCA-RSV). A significant increased prevalence of MACEs in were observed in intramural, slit-like and high inter-arterial course morphology group. Median follow-up time was 13 months (IQR 3–18 months). During follow-up 2 died, 4 had PCI, 13 had myocardial infarction and 7 had surgical treatment.ConclusionsIntramural, slit-like and high type inter-arterial course morphology of ACAOS with IAC are high risk features for MACEs which can be identified by DSCTA.

Choledochal Cyst or Benign Biliary Dilation: Is Resection Always Necessary?

BackgroundCholedochal cysts (CC) are often diagnosed during the first few decades of life, when, due to the risk of malignancy, resection is advised. With an increasing number of patients undergoing abdominal imaging, many older patients have recently been radiographically diagnosed with biliary duct enlargement that meets the criteria of choledochal cysts. The management in these patients is less well defined, but resection is often recommended as it is for younger patients. We sought to better understand the significance of these biliary duct anomalies in adults. MethodsWe retrospectively reviewed all patients 18 years and older at our institution, who were given a radiographic diagnosis of choledochal cyst during the interval 2006–2019. Demographics, comorbidities, complications, readmissions, and follow-up imaging were evaluated. ResultsWe identified 22 patients, of whom 40.9% (n = 9) underwent an operation. The remainder was observed. Median duct size was 15 mm (range 2–25 mm). There were no significant differences in demographics between the two cohorts. Of those who underwent resection, none had evidence of high-grade dysplasia or invasive carcinoma upon final pathology. However, 33.3% (n = 3) had subsequent readmissions for complications, including post-operative nausea and vomiting, cholangitis, and anastomotic stenoses that required stenting. In the observation group, there was no obvious growth of the cysts or development of worrisome features to suggest malignant degeneration (median follow-up = 68 months). ConclusionA radiographic diagnosis of choledochal cyst in older adults is likely a different entity than those diagnosed in childhood. Close surveillance of these biliary duct anomalies in older adults may be a better option than resection and reconstruction with the associated risks of long-term morbidity.