scholarly journals CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease

2021 ◽  
Vol 15 ◽  
pp. 117954682110168
Author(s):  
Tatiana Pineda ◽  
Ignacio Zarante ◽  
Angela Camila Paredes ◽  
Juan Pablo Rozo ◽  
Martha C. Reyes ◽  
...  
Keyword(s):  
Cardiac Disease ◽  
Chromosomal Region ◽  
Chromosomal Abnormalities ◽  
Neonatal Period ◽  
Clinical Manifestations ◽  
Copy Number Variations ◽  
Common Finding ◽  
Molecular Method ◽  
Congenital Cardiac Disease ◽  
Monogenic Diseases

Background: Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations. We tested CNVs in the 22q11.2 chromosomal region by MLPA in a cohort of Colombian patients with isolated CHD to establish the frequency of these CNVs in the cohort. Methods: CNVs analysis of 22q11.2 by MLPA were performed in 32 patients with apparently isolate CHD during the neonatal period. Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist. Results: CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). The typical deletion was found in 6 patients (18.75%) and atypical 1.5 Mb duplication was found in 1 patient (3.1%). Conclusions: CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.

scholarly journals Ivemark syndrome with obstructed supracardiac TAPVC- case report

2021 ◽  
Vol 8 (2) ◽  
pp. 389
Author(s):  
Sravani Vemuri ◽  
Chaitanya Challa ◽  
Vala Ramgopal Rao ◽  
Sudharshan Raj C.
Keyword(s):  
Case Report ◽  
Cardiac Disease ◽  
Neonatal Period ◽  
Rare Disorder ◽  
Ivemark Syndrome ◽  
Abdominal Organs ◽  
Congenital Cardiac Disease ◽  
Left And Right ◽  
Thoracic And Abdominal ◽  
Anomalous Pulmonary Venous Connection

Heterotaxy disorder is a disturbance in the usual left and right distribution of the thoracic and abdominal organs. Ivemark syndrome is one such heterotaxy disorder. It is a rare disorder which affects males more than females with majority of cases presenting in the neonatal period mainly due to complex congenital cardiac disease. Here is a case report of rare disorder of the neonate with Ivemark syndrome with obstructed supracardiac total anomalous pulmonary venous connection (TAPVC). Management of obstructed supracardiac TAPVC is complicated as PGE1 infusion is contraindicated and immediate surgical correction is advised.

Hypoplastic left heart syndrome and other left heart disease: evolution of understanding from population-based analysis to molecular biology and back again – a brief overview

2011 ◽  
Vol 21 (S2) ◽  
pp. 23-27 ◽  
Author(s):  
Joel I. Brenner ◽  
Karen Kuehl
Keyword(s):  
Environmental Factors ◽  
Cardiac Disease ◽  
Chromosomal Abnormalities ◽  
Population Based ◽  
Geographic Region ◽  
Left Heart ◽  
Susceptible Host ◽  
Disease Evolution ◽  
Congenital Cardiac Disease ◽  
Infant Study

AbstractCongenital cardiac disease is the most common birth defect, occurring in approximately 1 in 1000 live births. Congenital cardiac defects have associations, whether with gender, race, or specific chromosomal abnormalities, potentially allowing grouping of defects to be studied in an effort to develop an understanding of aetiological factors. The Baltimore-Washington Infant Study provides full ascertainment of a population of infants with congenital cardiac disease born in a defined geographic region. The fundamental hypotheses generated at the inception of the Baltimore-Washington Infant Study included the central idea that the outcome of birth, including the development of congenital cardiac malformations, was influenced by environmental factors and their route of introduction into a genetically susceptible host. Evidence exists that supports the concept that both genetic and environmental factors contribute to the development of diseases of the left heart.

Application of Copy Number Variation Sequencing in Genetic Analysis of Miscarriages in Early and Middle Pregnancy

2020 ◽  
Vol 160 (11-12) ◽  
pp. 634-642
Author(s):  
Shiqiang Luo ◽  
Xingyuan Chen ◽  
Tizhen Yan ◽  
Jiaolian Ya ◽  
Zehui Xu ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
High Throughput ◽  
Copy Number ◽  
High Throughput Sequencing ◽  
Chromosomal Abnormalities ◽  
Pregnancy Termination ◽  
Mendelian Inheritance ◽  
Copy Number Variations ◽  
Abnormal Chromosome ◽  
Number Variation

High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities. This study identifies chromosomal abnormalities in aborted embryos/fetuses in early and middle pregnancy and explores the application value of CNV-seq in determining the causes of pregnancy termination. High-throughput sequencing was used to detect chromosome copy number variations (CNVs) in 116 aborted embryos in early and middle pregnancy. The detection data were compared with the Database of Genomic Variants (DGV), the Database of Chromosomal Imbalance and Phenotype in Humans using Ensemble Resources (DECIPHER), and the Online Mendelian Inheritance in Man (OMIM) database to determine the CNV type and the clinical significance. High-throughput sequencing results were successfully obtained in 109 out of 116 specimens, with a detection success rate of 93.97%. In brief, there were 64 cases with abnormal chromosome numbers and 23 cases with CNVs, in which 10 were pathogenic mutations and 13 were variants of uncertain significance. An abnormal chromosome number is the most important reason for embryo termination in early and middle pregnancy, followed by pathogenic chromosome CNVs. CNV-seq can quickly and accurately detect chromosome abnormalities and identify microdeletion and microduplication CNVs that cannot be detected by conventional chromosome analysis, which is convenient and efficient for genetic etiology diagnosis in miscarriage.

Endocrinal complications associated with the treatment of patients with congenital cardiac disease: consensus definitions from the Multi-Societal Database Committee for Pediatric and Congenital Heart Disease

2008 ◽  
Vol 18 (S2) ◽  
pp. 256-264 ◽  
Author(s):  
Heather Dickerson ◽  
David S. Cooper ◽  
Paul A. Checchia ◽  
David P. Nelson
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Cardiac Disease ◽  
Congenital Heart ◽  
Healthcare Intervention ◽  
Time Interval ◽  
Quality Reporting ◽  
Cardiac Malformations ◽  
Comprehensive List ◽  
Congenital Cardiac Disease

AbstractA complication is an event or occurrence that is associated with a disease or a healthcare intervention, is a departure from the desired course of events, and may cause, or be associated with, suboptimal outcome. A complication does not necessarily represent a breech in the standard of care that constitutes medical negligence or medical malpractice. An operative or procedural complication is any complication, regardless of cause, occurring (1) within 30 days after surgery or intervention in or out of the hospital, or (2) after 30 days during the same hospitalization subsequent to the operation or intervention. Operative and procedural complications include both intraoperative/intraprocedural complications and postoperative/postprocedural complications in this time interval.The MultiSocietal Database Committee for Pediatric and Congenital Heart Disease has set forth a comprehensive list of complications associated with the treatment of patients with congenital cardiac disease, related to cardiac, pulmonary, renal, haematological, infectious, neurological, gastrointestinal, and endocrinal systems, as well as those related to the management of anaesthesia and perfusion, and the transplantation of thoracic organs. The objective of this manuscript is to examine the definitions of operative morbidity as they relate specifically to the endocrine system. These specific definitions and terms will be used to track morbidity associated with surgical and transcatheter interventions and other forms of therapy in a common language across many separate databases.As surgical survival in children with congenital cardiac disease has improved in recent years, focus has necessarily shifted to reducing the morbidity of congenital cardiac malformations and their treatment. A comprehensive list of endocrinal complications is presented. This list is a component of a systems-based compendium of complications that will standardize terminology and thereby allow the study and quantification of morbidity in patients with congenital cardiac malformations. Clinicians caring for patients with congenital cardiac disease will be able to use this list for databases, initiatives to improve quality, reporting of complications, and comparing strategies of treatment.

Impact on parents of feeding young children with congenital or acquired cardiac disease

2000 ◽  
Vol 10 (6) ◽  
pp. 574-581 ◽  
Author(s):  
Christine Imms
Keyword(s):  
Cardiac Disease ◽  
Negative Impact ◽  
Mood State ◽  
Negative Mood ◽  
Oral Feeding ◽  
Social Emotional ◽  
Negative Mood State ◽  
Congenital Cardiac Disease ◽  
Culturally Based ◽  
Emerging Themes

AbstractFeeding an infant is an interactive process that facilitates social, emotional and culturally based skills. Children with congenital or acquired cardiac disease frequently require supportive regimes with regard to feeding so as to maintain weight, resulting in altered experiences for both the child and family. This study evaluated the practical, emotional and social ramifications for parents, of having a child with cardiac disease who also experienced difficulties with oral feeding. The study sampled three groups of parents who had children less than 3 years of age: those with cardiac disease who had difficulty in feeding, those with cardiac disease and no such difficulty, and those with no medical diagnosis. Parents completed a questionnaire about feeding, a time diary of activities involved in feeding, and Tuckman's Mood Thermometers, which measure anger and ‘poorness-of-mood’ associated with feeding the identified child. Parents of children with cardiac disease and a feeding difficulty reported a significantly more negative mood-state, and significantly longer time associated with feeding, than parents of children in the other two groups. Emerging themes from qualitative analysis of the data suggested that having a child with congenital cardiac disease producing difficulty in feeding had a strong negative impact on the whole family.

scholarly journals Infection and white matter injury in infants with congenital cardiac disease

2011 ◽  
Vol 21 (5) ◽  
pp. 562-571 ◽  
Author(s):  
Hannah C. Glass ◽  
Chelsea Bowman ◽  
Vann Chau ◽  
Alisha Moosa ◽  
Adam L. Hersh ◽  
...  
Keyword(s):  
Risk Factors ◽  
White Matter ◽  
Bloodstream Infection ◽  
Cardiac Disease ◽  
Brain Injuries ◽  
White Matter Injury ◽  
Term Infants ◽  
Established Risk Factor ◽  
Congenital Cardiac Disease

AbstractMore than 60% of newborns with severe congenital cardiac disease develop perioperative brain injuries. Known risk factors include: pre-operative hypoxemia, cardiopulmonary bypass characteristics, and post-operative hypotension. Infection is an established risk factor for white matter injury in premature newborns. In this study, we examined term infants with congenital cardiac disease requiring surgical repair to determine whether infection is associated with white matter injury. Acquired infection was specified by site – bloodstream, pneumonia, or surgical site infection – according to strict definitions. Infection was present in 23 of 127 infants. Pre- and post-operative imaging was evaluated for acquired injury by a paediatric neuroradiologist. Overall, there was no difference in newly acquired post-operative white matter injury in infants with infection (30%), compared to those without (31%). When stratified by anatomy, infants with transposition of the great arteries, and bloodstream infection had an estimated doubling of risk of white matter injury that was not significant, whereas those with single ventricle anatomy had no apparent added risk. When considering only infants without stroke, the estimated association was higher, and became significant after adjusting for duration of inotrope therapy. In this study, nosocomial infection was not associated with white matter injury. Nonetheless, when controlling for risk factors, there was an association between bloodstream infection and white matter injury in selected sub-populations. Infection prevention may have the potential to mitigate long-term neurologic impairment as a consequence of white matter injury, which underscores the importance of attention to infection control for these patients.

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