Congenital erythroleukemia: a case report with morphological, immunophenotypic, and cytogenetic findings

We report a lethal case of congenital erythroleukemia presenting on the first day of life with peripheral blast cells and a leukemic infiltrate in the placenta. Although initial bone marrow examination did not fulfill the French-American-British (FAB) cooperative group criteria for acute myelogenous leukemia (AML), including M6, a malignant clone was confirmed by cytogenetic analysis: 49,XX, +8, +19, +21. Evolution to erythroleukemia (M6) occurred over a two-month period. The diagnosis of erythroleukemia was supported by immunophenotyping employing an antibody to glycophorin A. The clinical course was complicated by liver failure of unknown etiology. Comparison to previously reported cases of early childhood erythroleukemia is made.     

Congenital Zika Infection and the Risk of Neurodevelopmental,Neurological, and Urinary Track Disorders in Early Childhood. A Systematic Review

It was late 2015 when Northeast Brazil noticed a worrying increase in neonates born with microcephaly and other congenital malformations. These abnormalities, characterized by an abnormally small head and often neurological impairment and later termed Congenital Zika Syndrome, describe the severity of neurodevelopmental and nephrological outcomes in early childhood, and the implication of microcephaly at birth. The purpose of the study was to describe the neurodevelopmental outcomes in children exposed to Zika virus during fetal life, with and without microcephaly at birth. The systematic review included research studies about the neurodevelopmental outcomes with and without microcephaly, as well as nephrological outcomes in early childhood. We searched PubMed, Crossref, PsycINFO, Scopus, and Google Scholar publications and selected 19 research articles published from 2018 to 2021. Most studies have linked the severity of microcephaly in childbirth to the neurodevelopmental and urinary outcomes in early childhood. However, most children without microcephaly at birth develop typically, while others may be at risk for language impairment.     

Obesity trends in children,adolescents, and young adults with congenital heart disease

Objectives: To determine the prevalence, age of onset, and risk factors for overweight and obesity in children with congenital heart disease (CHD).
Study Design: Children with CHD who were seen at our institution from 1996 to 2017 were studied. Patients were full-time residents of the United States and were receiving all cardiac care at our institution. Patients were categorized by age and CHD diagnosis. The date of last normal weight for age and the date of first recorded weight in the range of overweight and obese were documented.
Results: Nine hundred sixty-eight patients with CHD were included. The prevalence of overweight and obesity was 31.5% and 16.4%, respectively. For patients who became overweight or obese, the last recorded normal weight was between 6 and 10 years of age. Electrophysiologic disease and older age were risk factors for obesity.
Conclusions: Children with CHD have an increasing risk of becoming overweight and obese in early childhood. This study provides important information and identifies critical period to implement preventative measures and counsel families about the risk of obesity in CHD.     

Coronary artery fistulas in adults: Incidence,angiographic characteristics,natural history

The incidence, angiographic characteristics, and natural history of coronary artery fistulas in patients undergoing diagnostic cardiac catheterization have not been well defined. Of 33,600 patients who had diagnostic cardiac catheterization, 34 (0.1%) had coronary artery fistula. Nineteen fistulas originated from the right, 11 from the left anterior descending, and 4 from the circumflex coronary arteries, respectively. The mean ratio of pulmonary to systemic flow was 1.19 ± 0.33. Only one patient with coexistent atrial septal defect had a pulmonic to systemic flow ratio >1.5. Right and left heart pressures, with the exception of three patients in whom left ventricular end-diastolic pressure was >12 mm Hg, were within normal limits. During a mean follow-up period of 6.3 years (range 2–14 years), there were no complications related to coronary artery fistula. It was concluded that the incidence of coronary artery fistulas detected during diagnostic coronary angiography is very low. Coronary artery fistulas originate predominantly from the right coronary artery and are not associated with hemodynamic abnormalities or other congenital heart diseases. The prognosis of coronary artery fistulas in adults is good. © 1995 Wiley-Liss, Inc.     

Choledochal cyst,pancreatobiliary malunion,and cancer

A review of the clinical features of biliary cancer with choledochal cyst and pancreatobiliary malunion is presented, together with a recent case report. Biliary cancer develops in about 25% of patients with choledochal cyst and pancreatobiliary malunion, and usually occurs in younger patients (usually those in their 40s) than does biliary carcinoma in the general population. The risk of malignancy in the retained cyst with internal drainage is higher than that in the primary cyst. Early excision of the retained cyst should be performed as quickly as possible, even if the patient is symptomless. Some bile acid fractions and refluxed pancreatic enzymes in bile are possibly responsible for carcinogenesis. Carcinoma generally develops in the extrahepatic bile duct and gallbladder, and rarely in the intrahepatic bile duct. In cystic dilatation, cancer usually occurs in the common bile duct, while in diffuse or non-dilated type, it develops in the gallbladder. Multicentric carcinomas develop in the bile duct either synchronously or metachronously. The prognosis of biliary cancer is usually dismal. However, aggressive procedures are now gaining better results than conventional approaches. The procedure of choice for choledochal cyst or malunion is to prevent the development of cancer by performing an early excision. Removal of the entire extrahepatic bile duct is necessary, even in patients with malunion and no biliary dilatation. Carcinoma rarely arises in the intrahepatic bile duct after excisional surgery, probably due to the long-standing stricture of the bile duct. Capacious anastomosis and/or ductoplasty is essential. Carcinoma may also develop in the remnant bile duct. Excision of the distal duct extending into the pancreas is also necessary.     

Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia

Fourteen children with congenital thrombocytopenia were analysed in order to unravel the mechanisms underlying their thrombocytopenia and to evaluate the value of new laboratory tests, namely measurement of plasma thrombopoietin (Tpo) and glycocalicin (GC) levels and analysis of megakaryocytopoiesis in vitro. Three groups of patients were included. The first group (n = 6) was diagnosed with congenital amegakaryocytic thrombocytopenia. They had no megakaryocytes in the bone marrow, three out of four patients showed no megakaryocyte formation in vitro, and all had high Tpo and low GC levels. Mutations in the thrombopoietin receptor gene, c-mpl, were the cause. The second group of patients (n = 3) had normal Tpo and severely decreased GC levels. In bone marrow, normal to increased numbers of atypical, dysmature megakaryocytes were present. In vitro megakaryocyte formation was quantitatively normal. A defect in final megakaryocyte maturation and subsequent (pro-)platelets may be the cause of the thrombocytopenia. The patients in the third group (n = 5) had Wiskott-Aldrich syndrome (WAS). They had normal Tpo and GC levels and normal megakaryocyte formation both in vivo and in vitro. This corresponded with the generally accepted hypothesis that thrombocytopenia in WAS is due to increased platelet turnover. In conclusion, different causes of congenital thrombocytopenia can be distinguished using three parameters: Tpo and GC plasma levels and in vitro analysis of megakaryocytopoiesis. Therefore, these parameters may be helpful in early diagnosis of different forms of congenital thrombocytopenia.     

新生儿先天性心脏病心衰与内皮素-1、一氧化氮的关系研究

目的 检测新生儿先天性心脏病（先心病）的内皮素-1（ET-1）和一氧化氮（NO）,探讨新生儿先天性心脏病的ET-1、NO激活状况与心力衰竭的关系及其临床意义.方法 选取100例新生儿先心病患者,检测其ET-1和NO浓度,另选取年龄及性别与之相匹配的健康体检新生儿30名作为对照组.结果 新生儿先心病血循环中的ET-1与对照组比较明显增高（均P＜0.01）,随着疾病严重程度加重,3个亚组ET-1的激活越明显;与之相反,NO与对照组比较明显降低（均P＜0.05）,随着疾病严重程度的加重,3个亚组NO降低越明显.结论 新生儿先心病存在ET-1明显激活而NO明显降低,并与疾病的严重性密切相关,因此检测ET-1及NO浓度可推测患儿的心功能状况.     

Advances in Fetal Echocardiography: Early Imaging,Three/Four Dimensional Imaging,and Role of Fetal Echocardiography in Guiding Early Postnatal Management of Congenital Heart Disease

In this article, we review a number of topics that we believe reflect new and exciting aspects of fetal echocardiography. These new advances include early fetal cardiovascular imaging around 14 weeks, the utility of three/four dimensional imaging technology for the fetus, and finally the utility of fetal echocardiography for antenatal and perinatal care of congenital heart diseases to improve and optimize outcome. Finally, we briefly discussed future directions in fetal cardiac intervention.     

Lack of response of bone marrow, in vitro, to growth factors in congenital neutropenia.

Severe congenital neutropenia has a poor outlook. In vitro clonogenic assays using recombinant growth factors may improve understanding of the underlying pathogenetic mechanisms and identify those in whom growth factors might be clinically useful. Marrow from a boy with congenital neutropenia was cultured with a variety of recombinant growth factors. The results show that the neutropenia did not result from a lack of myeloid progenitors but that these progenitors could not produce mature neutrophils. Bone marrow transplantation is being considered as the most likely approach to correct neutropenia.     

Congenital esophageal stenosis presenting as noncardiac,esophageal chest pain

Summary A case of a 31-year-old female with congenital esophageal stenosis presenting with symptoms of chest pain caused by esophageal dysmotility is described. The involved segment in congenital esophageal stenosis has a characteristic thickening of the muscularis propria layer, as seen by EUS examination. In these patients, symptoms of dysphagia can be managed with esophageal dilation and noncardiac esophageal chest pain responds to pharmacotherapy with diltiazem.The opinions and assertions contained herein are the private ones of the authors and are not to be construed as official policy or reflecting the views of the Army or the Department of Defense.     

Assessment of regional right ventricular velocities, strain, and displacement in normal children using velocity vector imaging

BACKGROUND: Velocity vector imaging (VVI) is a novel technique to assess regional myocardial mechanics. We evaluated the utility of VVI in the assessment of right ventricular (RV) function in normal children. METHODS: RV images (apical 4-chamber view, high frame rate capture) from 30 normal children (mean 8.7 years; range 1.1-18) were selected. Longitudinal myocardial velocities, peak systolic strain (PSS), maximal longitudinal displacement (LD), and times to peak for these parameters were obtained from six RV segments. Simultaneous Doppler tissue imaging (DTI) derived peak systolic and early diastolic velocities were obtained from the free tricuspid annulus. Measurements were made independently by two observers. RESULTS: Qualitative analysis shows dominant longitudinal systolic and diastolic myocardial motion, particularly at the basal segments. Velocities and LD were greatest at the basal segments and decreased from base to apex. PSS values were less consistent between segments and observers, with the greatest PSS generally found in the apical segments. LD and time to peak displacement (TPD) were the most reproducible. TPD in the basal segments were strikingly similar in each patient and correlated with R-R intervals. Peak diastolic velocities in the right base did correlate with corresponding annular DTI velocities; DTI velocities were consistently higher than VVI velocities. CONCLUSIONS: RV segmental velocities and LD are reliably obtained by VVI. PSS is less reproducible. LD is a reproducible measure of systolic function and TPD appears to be useful in the assessment of synchrony. Correlation of these findings with children who have known RV pathology is an important next step.     

Hypofibrinogenaemia is the commonest congenital fibrinogen abnormality in North India

Summary Congenital abnormalities of fibrinogen are rare disorders and all the cases reported in the literature indicate that the incidence of afibrinogenaemia is much higher than hypofibrinogenaemia. Of the total of 20 cases reported from other parts of India only one was congenital hypofibrinogenaemia. In contrast, the present study showed eight patients with congenital hypofibrinogenaemia among a total of nine unrelated North Indian patients with a fibrinogen abnormality. This disproportionately high incidence of hypofibrinogenaemia suggests the existence of a distinct genetic defect in the North Indian population.     

Long-Term Healthcare Utilization,Medical Cost,and Societal Cost in Adult Congenital Heart Disease

Objective: Cost-of-illness studies in Adult Congenital Heart Disease (ACHD) have mainly been limited to hospitalizations. This is the first paper to provide a comprehensive overview from a societal perspective including inpatient and outpatient medical costs, and absenteeism- and unemployment-related societal costs. Methods: A retrospective longitudinal (2006–2015) database analysis was performed in Belgium combining administrative and clinical databases (n = 10,572). Trends in resource use and costs per patient year were standardized to assess the impact of changes in the patient population composition. Generalized Linear Mixed Models assessed the impact of age, sex, lesion complexity, and time. Costs were converted to 2018 values. Results: Medical costs per patient year increased from €3490 to €4536 with a milder increase in patients with severe lesions. Although unemployment-related costs decreased, total societal costs increased due to more long-term (≥1 yr) invalidity. An increase in long-term invalidity was particularly found in patients ≥30 yrs and in patients with mild or moderate lesions. Resource use (e.g., dental care, nursing care, physiotherapy, emergency department) increased substantially in all patient groups over time. The annual percentage of patients with severe lesions receiving any cardiac and specialized cardiac follow-up increased with respectively 11 and 13 percent points to 81% and 52%, with a simultaneous decrease in hospitalization rate. Conclusion: Medical cost increases in ACHD are most pronounced in patients with mild and moderate lesions, relatable to their higher age. Economic data are necessary to allocate resources efficiently to ensure sustainable, qualitative care in an ageing patient population with strong increases in medical and long-term invalidityrelated costs.     

Absent right atrioventricular connexion with the left atrium connected to the morphologically right ventricle, a right-sided rudimentary left ventricle, and right juxtaposition of the atrial appendages: documentation by angiography and cross-sectional echocardiography

In this report, a 12-hr-old male infant was demonstrated to have the absent connexion variant of right atrioventricular valve atresia with the left atrium connected to the morphologically right ventricle with a right-sided rudimentary left ventricle. The aorta arose from the right ventricle and there was pulmonary atresia, the pulmonary circulation being duct-dependent. In addition there was right juxtaposition of the atrial appendages. The definitive cross-sectional echocardiographic and angiographic findings are presented.     

Congenital calcified, apical aneurysm of the left ventricle in an adult

A rare case of a congenital, calcified, apical, left ventricularaneurysm in a 30-year-old man with normal coronary arteriesis presented. The successful surgical management and the developmentalanatomy and pathology of such aneurysms is discussed.     

The Genesis stent: A new low-profile stent for use in infants, children, and adults with congenital heart disease.

Placement of intravascular stents that can reach adult size in infants and smaller children has been limited by the large profile and poor flexibility of currently available stents. In vitro and in vivo testing of the Genesis stent was performed to evaluate crimpability, predeployment flexibility, and radial strength. Comparisons were made to the Palmaz iliac and IntraStent (IS) LD stents. Nine physicians placed 30 Genesis stents in swine pulmonary and systemic arteries to evaluate stent deliverability/crimpability. Two swine were recovered and underwent a second catheterization 8 weeks later, where the stents (n = 8) were reexpanded to maximal size. Angiographic and intravascular ultrasound (IVUS) assessments were performed. In vitro testing revealed the Genesis stent to have superior crimpability, flexibility, and comparable radial strength to the Palmaz iliac stent, and superior crimpability and radial strength and comparable flexibility to the IS LD series. During in vivo testing, the physicians graded the Genesis stent superior to the Palmaz stent regarding crimpability and deliverability, and superior to the IS LD stent in regard to crimpability, and comparable to or superior in deliverability. In the chronic animals, the Genesis stent was expanded up to maximal diameter 8 weeks following implantation. Angiographic and IVUS revealed no fractures no in-stent restenosis. The Genesis stent can be easily delivered through smaller sheaths, which will facilitate their use in infants and smaller children with vascular stenosis.