Project description:A pouch protruding from the free wall of the left ventricle may be either a congenital ventricular diverticulum (CVD) or aneurysm (CVA). Being aware of these rare congenital anomalies is critical in making the diagnosis. Differentiating the two is important for treatment decisions. We describe a patient with dextrocardia, Tetralogy of Fallot, and a congenital left ventricular apical diverticulum diagnosed following the induction of anesthesia. CVD and CVA may present in the antenatal period through late adulthood with differing morphology, location, and symptoms. Echocardiography is paramount in the diagnosis and characterization of these lesions. If this anomaly is encountered after the induction of anesthesia or during intraoperative echocardiography, the cardiothoracic anesthesiologist should make the surgical team aware so it can be further characterized and a treatment plan made prior to incision.
Project description:A bladder diverticulum can be the consequence of a congenital abnormality or acquired as a result of trauma, infection, or outlet obstruction. Many are asymptomatic, but some may present with complications such as urinary tract infection, hematuria, or urinary retention. A 76-year-old male presented to the emergency department (ED) for the second visit in one week with a chief complaint of urinary retention and lower abdominal pain. He had not voided since the prior night, when he had presented to the ED for the same compliant. During his initial visit, his symptoms were relieved by insertion of an in-&-out foley catheter. Point of Care Ultrasound (POCUS) of the bladder showed the appearance of two enlarged vertically aligned "bladders" with a central connection, concerning for a bladder diverticulum. Patient's cause of bladder diverticulum was found to be secondary to outlet obstruction, specifically benign prostatic hypertrophy (BPH). An indwelling foley catheter was inserted, and the patient was discharged home with instructions for urology follow up. The purpose of this report is to describe an anatomical anomaly of a bladder diverticulum presenting incidentally on Point of Care Ultrasound during routine workup of urinary retention.TopicsUrinary bladder diverticulum, urinary retention, benign prostatic hypertrophy, POCUS, case report.
Project description:Congenital left ventricular (LV) diverticulum is a rare condition characterized by the presence of a contractile appendix originating usually from the cardiac apex, but with high variability in location, dimension, and clinical presentation. We describe the diagnostic process and clinical management of an isolated apical diverticulum discovered during fetal life. (Level of Difficulty: Advanced.).
Project description:Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm resulting in pulmonary sequelae that threaten the lives of infants. In computed tomography (CT) images of a 17th century middle-aged male mummy (the Andong mummy), we observed that the abdominal contents had protruded into the right thoracic cavity through the diaphragmatic defect, accompanied by a mediastinal shift to the left. On autopsy, the defect in the right posterolateral aspect of the diaphragm was reconfirmed, as was the herniation of the abdominal organs. The herniated contents included the right lobe of the liver, the pyloric part of the stomach, a part of the greater omentum, and the right colic flexure connecting the superior part of the ascending colon and the right part of the transverse colon. Taking our CT and autopsy results together, this case was diagnosed as the Bochdalek-type CDH. Herein we make the first ever report of a CT-assisted diagnosis of a pre-modern historical case of CDH. Our results show the promising utility of this modality in investigations of mummified human remains archaeologically obtained.
Project description:Congenital ventricular diverticulum is a rare cardiac anomaly defined as a localized protrusion of the ventricular free wall. Although, it is usually asymptomatic, complications such as embolism, infective endocarditis, and arrhythmias can occur. The diagnosis can be made by echocardiography, cardiac magnetic resonance imaging, or catheter angiography. Surgical resection is the treatment of choice in symptomatic patients, whereas the management of asymptomatic patients often represents a therapeutic dilemma. We report here, a 9-month-old patient with asymptomatic congenital left ventricular (LV) diverticulum associated with epigastric hernia.
Project description:Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.
Project description:Left ventricular (LV) diverticulum is a relatively rare condition, and it is important to differentiate it from pseudoaneurysm. The increasing use of noninvasive imaging modalities can help to demonstrate different types of ventricular outpouching structures. We report a case of congenital LV diverticulum that is much larger than the usual size and is diagnosed with tissue Doppler echocardiography and cardiac magnetic resonance imaging. Although a ventricular diverticulum is mostly asymptomatic, in the case of this particular patient, it has become complicated with infective endocarditis. <Learning objective: Congenital ventricular diverticulum is a rare finding and can be diagnosed with noninvasive imaging modalities such as tissue Doppler echocardiography and cardiac magnetic resonance imaging rather than surgery. Although congenital ventricular diverticulum is asymptomatic in most cases, infective endocarditis is a known complication.>.
Project description:AimThe aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application.Material and methodsThe cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies. The age range was from newborn to five years old. The cytogenetic analysis determined by a standard method of G-banding according to the International System for Human Cytogenetic Nomenclature (ISCN 2005) was performed for all our patients, while array CGH was performed on genomic DNA isolated from the blood of 7 cases.ResultsAmong the seven patients analysed with array CGH, three patients resulted in duplication and one deletion, one patient with a microdeletion and three patients with duplication. Array CGH facilitated the recognition of submicroscopic deletions and duplications as risk factors for genetic diagnosis in all our patients.ConclusionsOur case series with congenital chromosomal anomalies confirms the high diagnostic value of the method, as suggested by previous studies. The technique must be available also in less developed countries, to significantly improve the genetic diagnosis of paediatric patients with developmental delay or intellectual disability, congenital anomalies and dysmorphic features. The identification of chromosomal abnormalities in these patients and the genetic counselling will provide family members with an explanation for their child's developmental disability or birth defect, allowing better information about recurrence risks, and permit the anticipation of certain medical problems that require intervention.
Project description:A 2-day-old preterm female neonate weighing 1.6 kg and having excessive frothing from mouth was investigated for suspected esophageal atresia and tracheoesophageal fistula. X-ray findings of an unusually low-ending upper pouch (up to T8 level) and the absence of gas in abdomen lead to suspicion of an unusual variety of esophageal atresia. Hence unlike the usual management of pure esophageal atresia, in terms of esophagostomy and gastrostomy in neonatal period, right thoracotomy was performed allowing successful primary anastomosis. A high index of suspicion on the basis of radiological picture led to early diagnosis of a rare anomaly like congenital esophageal stenosis and successful management of this low birth weight baby.