scholarly journals Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Nathaly M. Sweeney ◽  
Shareef A. Nahas ◽  
Sh. Chowdhury ◽  
Sergey Batalov ◽  
Michelle Clark ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Genetic Disease ◽  
Congenital Heart ◽  
Cost Of Care ◽  
Morbidity And Mortality ◽  
Whole Genome ◽  
Microarray Gene

AbstractCongenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted genetic tests. Furthermore, cost of care for children and adults with CHD has increased dramatically. Rapid whole genome sequencing (rWGS) of newborns in intensive care units with suspected genetic diseases has been associated with increased rate of diagnosis and a net reduction in cost of care. In this study, we explored whether the clinical utility of rWGS extends to critically ill infants with structural CHD through a retrospective review of rWGS study data obtained from inpatient infants < 1 year with structural CHD at a regional children’s hospital. rWGS diagnosed genetic disease in 46% of the enrolled infants. Moreover, genetic disease was identified five times more frequently with rWGS than microarray ± gene panel testing in 21 of these infants (rWGS diagnosed 43% versus 10% with microarray ± gene panels, p = 0.02). Molecular diagnoses ranged from syndromes affecting multiple organ systems to disorders limited to the cardiovascular system. The average daily hospital spending was lower in the time period post blood collection for rWGS compared to prior (p = 0.003) and further decreased after rWGS results (p = 0.000). The cost was not prohibitive to rWGS implementation in the care of this cohort of infants. rWGS provided timely actionable information that impacted care and there was evidence of decreased hospital spending around rWGS implementation.

scholarly journals Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Nathaly M. Sweeney ◽  
Shareef A. Nahas ◽  
Shimul Chowdhury ◽  
Sergey Batalov ◽  
Michelle Clark ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Whole Genome Sequencing ◽  
Resource Utilization ◽  
Genome Sequencing ◽  
Congenital Heart ◽  
Whole Genome

scholarly journals Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Nathaly M. Sweeney ◽  
Shareef A. Nahas ◽  
Shimul Chowdhury ◽  
Sergey Batalov ◽  
Michelle Clark ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Whole Genome Sequencing ◽  
Resource Utilization ◽  
Genome Sequencing ◽  
Congenital Heart ◽  
Whole Genome

scholarly journals Factors Affecting Consent Rate for Whole Genome Sequencing of Patients with Congenital Heart Disease

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Jinny Tsang
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Congenital Heart ◽  
Minority Groups ◽  
Heart Diseases ◽  
Whole Genome ◽  
Consent Rate ◽  
Sequencing Project

The Whole Genome Sequencing Project initiated by The Hospital for Sick Children of Toronto intents to enroll patients between one to eighteen years of age with congenital heart disease to test the efficiency of such a method for potential personalized diagnoses and treatments. Twenty-five randomly approached patients were chosen to be observed of their consent rate to the project based on factors of age, gender, ethnicity, presence of heart diseases in the patient’s family, and type of congenital heart disease represented. Females and ethnicities not of European descent are considered to be a part of the minority groups, generally being under represented thus having a lower consent rate. There were no significant correlations between consent rates and familial history of heart disease, type of heart disease and age groups. All these findings can aid in future studies of the SickKids Hospital; which patients should be approached for higher consent rates, and the inclusivity of minority groups to alleviate bias in medical studies.

scholarly journals Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs)

2021 ◽  
Vol 9 ◽  
Author(s):  
Hui Lin ◽  
Kim L. McBride ◽  
Vidu Garg ◽  
Ming-Tao Zhao
Keyword(s):  
Stem Cells ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Induced Pluripotent Stem Cells ◽  
Genome Sequencing ◽  
Pluripotent Stem Cells ◽  
Congenital Heart ◽  
Model Systems ◽  
Patient Specific ◽  
Induced Pluripotent

Congenital heart disease (CHD) is the most common cause of infant death associated with birth defects. Recent next-generation genome sequencing has uncovered novel genetic etiologies of CHD, from inherited and de novo variants to non-coding genetic variants. The next phase of understanding the genetic contributors of CHD will be the functional illustration and validation of this genome sequencing data in cellular and animal model systems. Human induced pluripotent stem cells (iPSCs) have opened up new horizons to investigate genetic mechanisms of CHD using clinically relevant and patient-specific cardiac cells such as cardiomyocytes, endothelial/endocardial cells, cardiac fibroblasts and vascular smooth muscle cells. Using cutting-edge CRISPR/Cas9 genome editing tools, a given genetic variant can be corrected in diseased iPSCs and introduced to healthy iPSCs to define the pathogenicity of the variant and molecular basis of CHD. In this review, we discuss the recent progress in genetics of CHD deciphered by large-scale genome sequencing and explore how genome-edited patient iPSCs are poised to decode the genetic etiologies of CHD by coupling with single-cell genomics and organoid technologies.

Cardiac involvement in genetic disease

2010 ◽  
pp. 2834-2841
Author(s):  
Thomas A. Traill
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
Genetic Disease ◽  
Congenital Heart ◽  
Cardiac Involvement ◽  
Atrioventricular Canal ◽  
Marfan's Syndrome ◽  
Atrioventricular Canal Defect ◽  
History Of

Many clinicians find themselves faced, from time to time, with a patient who has a family history of a known disorder, such as Marfan’s syndrome, or who has noncardiac features that suggest a syndrome. Down’s syndrome—25 to 50% have congenital heart disease, most characteristically atrioventricular canal defect....

scholarly journals Evaluation of Complications of Heart Surgery in Children With Congenital Heart Disease at Dena Hospital of Shiraz

2015 ◽  
Vol 8 (5) ◽  
pp. 33 ◽  
Author(s):  
Maryam Mirzaei ◽  
Samaneh Mirzaei ◽  
Elham Sepahvand ◽  
Afifeh Rahmanian Koshkaki ◽  
Marzieh Kargar Jahromi
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Surgery ◽  
Open Heart Surgery ◽  
Vascular Complications ◽  
Congenital Heart Surgery ◽  
Morbidity And Mortality ◽  
High Morbidity ◽  
Cross Sectional

<p><strong>INTRODUCTION:</strong> Today, with progress in the field of congenital heart surgery, different complicated actions are done in children. These actions may be associated with several complications, especially open heart surgery in which the cardiopulmonary bypass (CPB) is used. Serious complications can be caused high morbidity and mortality rates. Present study has been performed to determine the incidence of morbidity and mortality in cardiac surgery in children.</p> <p><strong>METHOD:</strong> In a cross-sectional retrospective, records of 203 patients undergoing surgery for congenital heart disease in Dena hospital during 2013-2015 were reviewed for incidence of complications. Data was analyzed by using descriptive and analytical statistics and using SPSS version 18.</p> <p><strong>RESULTS:</strong> The mean age of samples was 3/65±4/47 years. The majority of samples (73/8%) were undergoing open surgery. The overall adverse cardiovascular complications were respectively, renal complications (44/3%), lung (40/3%), anemia (35/9%), heart (34/4%), gastrointestinal (17/2%), brain (14/2%), need for re-intubation of the trachea 11/3%), infection (7/8%) required reoperation (5/9%) and vascular complications (1/4%).</p> <p><strong>CONCLUSION:</strong> High incidence of complications after congenital heart surgery makes necessary attention to complications and their treatment after surgery. It is necessary to apply the measures and careful monitoring of patients to minimize these effects.</p>

scholarly journals Laboratory based Retrospective Study to determine the start of SARS-CoV-2 in Patients with Severe Acute Respiratory Illness in Egypt at El-Demerdash tertiary hospitals

2020 ◽  
Author(s):  
Sara H.A.Agwa ◽  
Hesham Elghazaly ◽  
Sarah El-Nakeep ◽  
Ahmad Moustafa ◽  
Manal H El-Sayed ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Clinical Characteristics ◽  
Severe Infection ◽  
Respiratory Illness ◽  
Morbidity And Mortality ◽  
Whole Genome ◽  
University Hospitals ◽  
First Case ◽  
Tertiary Hospitals

Abstract Purpose: COVID-19 is the most recent pandemic causing morbidity and mortality. Although a part of the pathogens causing SARI, it is unique in causing pulmonary thrombosis and lung fibrosis. Thus different management is needed. We aimed o explore the start of SARS-CoV-2 in preserved SARI samples to know the exact time of its emergence in our hospital, to conduct whole-genome sequencing in positive SARS-CoV-2 samples to define its strain. To assess the clinical characteristics of the severe respiratory infection admitted to El-Demerdash hospitals in that same period from our own file reports.Methods: We conducted a retrospective cohort study among SARI patients who were admitted to Ain Shams university hospitals. preserved nasopharyngeal& oropharyngeal swabs from 333 SARI patients were used in SARS-CoV-2 detection by RT-Real time PCR. Moreover, whole-genome sequencing of SARS-CoV-2 positive samples was performed. Clinical characteristics of the SARI patients were analyzed in the same period to show the relation to morbidity and mortality.Results: The first case of SARS-CoV-2 was detected in a 6months aged female patient on mid-April 2020, B.1.1.7, clade GR. Co-infection (with both bacterial and viral) was most prevalent in pediatrics than adults, but mortality was higher in adults than pediatrics (18.1% versus 7.1%). ICU admission was higher in adults than in the pediatric group (65% versus 12.8%). Co-morbidities were associated with higher mortality and more severe infection. The most common bacterial infection in both adults and pediatrics was Klebsiella pneumoniae, followed by Staphylococcus aureus and Streptococcus pneumoniae. Conclusion: COVID-19 didn’t start till mid-April in the Egyptian hospitals as remarked by this tertiary hospital’s data. Co-infection is the most prevalent in children and further research is needed in this area.

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