scholarly journals An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field

2021 ◽  
Author(s):  
Suly Saray Villa Vasquez ◽  
John van Dam ◽  
Gabrielle Wheway
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gold Standard ◽  
Congenital Heart ◽  
Developmental Disorders ◽  
Research Field ◽  
The Past ◽  
Health And Disease ◽  
Made In ◽  
Standard List

Cilia are microtubule-based organelles with important functions in motility and sensation. They contribute to a broad spectrum of developmental disorders called ciliopathies, and have recently been linked to common conditions such as cancers and congenital heart disease. There has been increasing interest in the biology of cilia and their contribution to disease over the past two decades. As a result, in 2013 we published a ‘Gold Standard’ list of genes confirmed to be associated with cilia. This was published as part of the SYSCILIA consortium systems biology study dissecting the contribution of cilia to human health and disease, and was named the Syscilia Gold Standard (SCGS). Since this publication, interest in cilia and understanding of their functions has continued to grow, and we now present an updated SCGS version 2. This includes an additional 383 genes, more than doubling the size of SCGSv1. We use this dataset to conduct a review of advances in understanding of cilia biology 2013-2021, and perspectives on the future of cilia research. We hope that this continues to be a useful resource for the cilia community.

Changing Profile of Congenital Heart Disease

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 790-791
Author(s):  
D. WOODROW BENSON ◽  
James Moller ◽  
Donald C. Fyler ◽  
David E. Fixler
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Surgical Treatment ◽  
Congenital Heart ◽  
Considerable Change ◽  
Diagnostic Methods ◽  
Younger Patients ◽  
The Past ◽  
Steady Improvement ◽  
Complex Lesions

In the past 20 years, considerable change has occurred in the profile of congenital heart disease regarding both diagnosis and treatment. The profile has changed from older to younger patients; the essence of this change has been from pediatric to infant to neonatal cardiology. There has been a shift from palliative to more definitive surgical procedures and a change from invasive (cardiac catheterization) to noninvasive (echocardiography) diagnostic methods. The profile has changed from definitive surgical treatment limited to simple lesions to surgical treatment of the most complex lesions. There has been steady improvement in the recognition of cases of congenital heart disease. Of all children admitted to hospitals for treatment of congenital heart disease, the portion less than three days of age has increased from 24% in 1969 to 1972 to 33% in 1982 to 1986.

scholarly journals LVNC – A review

2021 ◽  
Vol 2 (4) ◽  
Author(s):  
Lisa Brandon ◽  
◽  
Brian Kerr ◽  
Ken McDonald ◽  
◽  
...  
Keyword(s):  
Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gold Standard ◽  
Congenital Heart ◽  
Imaging Techniques ◽  
Disease Modifying Therapies ◽  
Increased Risk ◽  
Disease Modifying ◽  
No Gold Standard

LVNC is a relatively new clinical entity, with a significant increase in awareness and diagnosis in recent years. Currently the aetiology and pathogenesis of LVNC remains uncertain, alongside prevalence, however the diagnosis of LVNC appears to be increasing with improving imaging techniques. For educational purposes involving a rare clinical condition, we present the case of a 52 year old gentleman who was diagnosed with LV non compaction via ECHO and CMR. Interestingly it was noted two of his children had congenital heart disease, one daughter had Tetralogy of Fallot, and a second daughter had both an ASD and VSD. Challenges facing LVNC involve difficulty of diagnosis with no gold standard yet available, uncertainty of benefit with standard disease modifying therapies for HF-REF, and apparent increased risk of arrhythmias suggesting early ICD placement may be warranted for patients. Keywords: Hr-Ref; heart failure; lv non compaction; arrhythmias; lcd Risk.

An Atlas of Congenital Heart Disease

PEDIATRICS ◽  
1963 ◽  
Vol 32 (6) ◽  
pp. 1077-1077
Author(s):  
NORMAN J. SISSMAN
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Clinical Management ◽  
Congenital Heart ◽  
Pathological Examination ◽  
Children's Hospital ◽  
The Past ◽  
Present Volume ◽  
Children’S Hospital

Despite the vast experience accumulated during the past decade with all aspects of the lives and deaths of patients with congenital heart disease, there is still room for the clarification and direction that careful, informed, imaginative analysis of the results of pathological examination of postmortem material can give to the clinical management of these patients. Dr. Sherman has made a notable contribution in this area with the present volume. The atlas was compiled from 503 specimens collected in the Museum of Congenital Heart Disease at the Children's Hospital in Pittsburgh since 1954.

scholarly journals FISH spots microdeletion in heart defects

2009 ◽  
Vol 15 (S3) ◽  
pp. 5-6
Author(s):  
P. Ferraz-Gameiro ◽  
J. Ferrão ◽  
C. Mendes ◽  
L. M. Pires ◽  
E. Matoso ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Autosomal Dominant Trait ◽  
Conotruncal Malformations ◽  
Wide Range ◽  
22Q11.2 Microdeletion ◽  
Made In

AbstractThe 22q11.2 microdeletion is found in most of DiGeorge and velocardiofacial syndromes. These individuals have a wide range of anomalies including congenital heart disease, palatal abnormalities, characteristic facial features, hypocalcaemia, immune deficiency, and learning difficulties. Congenital heart disease, particularly conotruncal malformations are associated with 29% of deletions. This syndrome may be inherited as an autosomal dominant trait, but the majority of patients (93%) have a de novo deletion. To access the presence of the microdeletion in those individuals whose phenotipic changes suggested abnormalities in chromosome 22, a study has been made in several children with congenital heart defects.

scholarly journals Evaluation and Management of Pulmonary Arterial Hypertension in Congenital Heart Disease

2021 ◽  
Vol 17 (2) ◽  
pp. 145-151
Author(s):  
Hassaan Arshad ◽  
Valeria Duarte
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Congenital Heart ◽  
Cardiac Defect ◽  
Targeting Therapy ◽  
Pulmonary Vasodilators ◽  
Pulmonary Arterial ◽  
Made In

Pulmonary arterial hypertension is a common complication in patients with congenital heart disease (CHD), aggravating the natural course of the underlying defect. Pulmonary arterial hypertension (PAH) has a multifactorial etiology depending on the size and nature of the cardiac defect as well as environmental factors. Although progress has been made in disease-targeting therapy using pulmonary vasodilators to treat Eisenmenger syndrome, important gaps still exist in the evaluation and management of adult patients with CHD-associated PAH (PAH-CHD) who have systemic-to-pulmonary shunts. The choice of interventional, medical, or both types of therapy is an ongoing dilemma that requires further data. This review focuses on the evaluation and management of PAH-CHD in the contemporary era.

scholarly journals Association of Insurance Status With Emergent Versus Nonemergent Hospital Encounters Among Adults With Congenital Heart Disease

2021 ◽  
Vol 10 (19) ◽  
Author(s):  
Anushree Agarwal ◽  
Michelle Gurvitz ◽  
Janet Myers ◽  
Sarthak Jain ◽  
Abigail M. Khan ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Health Planning ◽  
Private Insurance ◽  
Insurance Status ◽  
The Past ◽  
Use Of Resources ◽  
Hospital Visits ◽  
The Relationship

Background Although the number of hospital visits has exponentially increased for adults with congenital heart disease (CHD) over the past few decades, the relationship between insurance status and hospital encounter type remains unknown. The purpose of this study was to evaluate the association between insurance status and emergent versus nonemergent encounters among adults with CHD ≥18 years old. Methods and Results We used California Office of Statewide Health Planning and Development Database from January 2005 to December 2015 to determine the trends of insurance status and encounters and the association of insurance status on encounter type among adults with CHD. A total 58 359 nonpregnancy encounters were identified in 6077 patients with CHD. From 2005 to 2015, the number of uninsured encounters decreased by 38%, whereas government insured encounters increased by 124% and private by 79%. Overall, there was a significantly higher proportion of emergent than nonemergent encounters associated with uninsured status (13.0% versus 1.8%; P <0.0001), whereas the proportion of nonemergent encounters associated with private insurance was higher than emergent encounters (35.8% versus 62.4%; P <0.0001). When individual patients with CHD became uninsured, they were ≈5 times more likely to experience an emergent encounter ( P <0.0001); upon changing from uninsured to insured, they were significantly less likely to have an emergent encounter ( P <0.001). After multivariate adjustment, uninsured status exhibited the highest odds of an emergent rather than nonemergent encounter compared with all other covariates (adjusted odds ratio, 9.20; 95% CI, 7.83–10.8; P <0.0001). Conclusions Efforts to enhance the ability to obtain and maintain insurance throughout the lifetime of patients with CHD might result in meaningful reductions in emergent encounters and a more efficient use of resources.

scholarly journals Oxygen saturation among newborns in the first 10 hours of life to detect Critical Congenital Heart Disease - Ductus Dependent

2020 ◽  
Vol 4 (2) ◽  
pp. 237
Author(s):  
Fatchul Wahab ◽  
Mahrus Abdul Rahman ◽  
Teddy Ontoseno ◽  
Risa Etika ◽  
Alit Utamayasa ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Oxygen Saturation ◽  
Pulse Oximetry ◽  
Gold Standard ◽  
Congenital Heart ◽  
Critical Congenital Heart Disease ◽  
Exact Test ◽  
Consecutive Sampling ◽  
The Right

ABSTRACT Delay diagnosis of Critical Congenital Heart Disease (CHD) can be associated with sudden clinical deterioration and dangerous cardiovascular conditions. The oxygen saturation screening among newborns in the first 10 hours of life is essential for early detection of critical CHD. This study aims to prove that measuring oxygen saturation among newborns in the first 10 hours of life can detect critical CHD. This study is a diagnostic experimental with consecutive sampling subjects in the infant care unit of Dr. Soetomo Hospital, including all newborns with birth weight ≥ 1500 grams and oxygen saturation at ≥ 1 hour of age below 90%. The measurement of oxygen saturation uses fingertip pulse oximetry in the right hand and foot at the age of 10 hours. A "positive oxygen saturation" is defined as oxygen saturation ≤ 85% or different oxygen saturation ≥ 3%, while a "negative oxygen saturation" is when the oxygen saturation is 85% to 90% or different oxygen saturation is 3%. Echocardiography is performed for the gold standard. From November 2019 to January 2020, 11 newborns underwent an oxygen saturation examination. Five subjects (45.46%) in the category of positive oxygen saturation, echocardiographic showed all Critical CHD (100%). Six subjects (54.54%) with negative oxygen saturation category, echocardiographic results showed two critical CHD (33.34%) and four non-critical CHD (66.66%). Fisher's exact test p < 0.005 (α). The diagnostic oxygen saturation test among newborns at 10 hours of life shows ≤85%, all subject’s echocardiography (100%) shows detection of critical CHD, while saturation 85% to 90% has of 33.3% for detection of critical CHD. The sensitivity and specificity of oxygen saturation for early diagnosis of critical CHD are 100% and 67%, respectively. Keywords: critical congenital heart disease, oxygen saturation, fingertip pulse oximetry, diagnostic tests*Corresponding Author: [email protected]

The genetics of congenital heart disease

2018 ◽  
Author(s):  
James R. Bentham
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Rare Variants ◽  
Copy Number Variants ◽  
Recurrence Risk ◽  
Model Organisms ◽  
Future Challenges ◽  
New Research ◽  
Made In

Congenital heart disease (CHD) is defined as a structural cardiac malformation resulting from an abnormality of development; 8% of CHD is inherited in a Mendelian fashion and 12% results from chromosomal imbalance. Recurrence risk and new research suggest that even the remaining 80% of patients without an identifiable familial or syndromic basis for disease may have an identifiable genetic cause. The potential to understand these mechanisms is increasing with the advent of new sequencing techniques which have identified multiple or single rare variants and/or copy number variants clustering in cardiac developmental genes as well as common variants that may also contribute to disease, for example by altering metabolic pathways. Work in model organisms such as mouse and zebrafish has been pivotal in identifying CHD candidate genes. Future challenges involve translating the discoveries made in mouse models to human CHD genetics and manipulating potentially protective pathways to prevent disease.

scholarly journals Recent advances and challenges on application of tissue engineering for treatment of congenital heart disease

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e5805 ◽  
Author(s):  
Antonia Mantakaki ◽  
Adegbenro Omotuyi John Fakoya ◽  
Fatemeh Sharifpanah
Keyword(s):  
Tissue Engineering ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Developmental Disorders ◽  
Vascular System ◽  
Vascular Malformations ◽  
Advanced Technology ◽  
The Impact ◽  
Promising Source

Congenital heart disease (CHD) affects a considerable number of children and adults worldwide. This implicates not only developmental disorders, high mortality, and reduced quality of life but also, high costs for the healthcare systems. CHD refers to a variety of heart and vascular malformations which could be very challenging to reconstruct the malformed region surgically, especially when the patient is an infant or a child. Advanced technology and research have offered a better mechanistic insight on the impact of CHD in the heart and vascular system of infants, children, and adults and identified potential therapeutic solutions. Many artificial materials and devices have been used for cardiovascular surgery. Surgeons and the medical industry created and evolved the ball valves to the carbon-based leaflet valves and introduced bioprosthesis as an alternative. However, with research further progressing, contracting tissue has been developed in laboratories and tissue engineering (TE) could represent a revolutionary answer for CHD surgery. Development of engineered tissue for cardiac and aortic reconstruction for developing bodies of infants and children can be very challenging. Nevertheless, using acellular scaffolds, allograft, xenografts, and autografts is already very common. Seeding of cells on surface and within scaffold is a key challenging factor for use of the above. The use of different types of stem cells has been investigated and proven to be suitable for tissue engineering. They are the most promising source of cells for heart reconstruction in a developing body, even for adults. Some stem cell types are more effective than others, with some disadvantages which may be eliminated in the future.

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