Association between congenital heart disease and NKX2.5 gene polymorphisms: systematic review and meta-analysis

2020 ◽  
Vol 14 (18) ◽  
pp. 1747-1757
Author(s):  
Thelma B González-Castro ◽  
Carlos A Tovilla-Zárate ◽  
María L López-Narvaez ◽  
Isela E Juárez-Rojop ◽  
Juan Calderón-Colmenero ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gene Polymorphisms ◽  
Congenital Heart ◽  
Web Of Science ◽  
Meta Analysis ◽  
P Value ◽  
Gene Variants ◽  
Analysis Software ◽  
Allelic Model

Aim: To analyze the association of NKX2.5 gene with congenital heart disease (CHD), and to determine if the variants rs703752, rs3729753 and rs2277923 increase the risk for developing CHD. Materials & methods: PubMed, EBSCO and Web of Science databases were screened to identify eligible studies. Through a comprehensive meta-analysis software, the association between NKX2.5 gene variants and susceptibility of CHD was calculated by pooled odd ratio (ORs) and 95% CI. Results: We observed that the allelic model of rs703752 and rs2277923 increased the risk in the overall population: OR = 1.24; 95% CI: 1.00–1.55; Z p-value = 0.049; OR = 1.18; 95% CI: 0.01–1.37; Z p-value = 0.036; respectively. Conclusion: Our results suggested that the rs703752 and rs2277923 polymorphisms of the NKX2.5 gene are associated with CHD.

scholarly journals Discontinuity of Cardiac Follow‐Up in Young People With Congenital Heart Disease Transitioning to Adulthood: A Systematic Review and Meta‐Analysis

2021 ◽  
Author(s):  
Philip Moons ◽  
Sandra Skogby ◽  
Ewa‐Lena Bratt ◽  
Liesl Zühlke ◽  
Ariane Marelli ◽  
...  
Keyword(s):  
United States ◽  
Systematic Review ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Meta Analysis ◽  
Transition Programs ◽  
The United States

Background The majority of people born with congenital heart disease require lifelong cardiac follow‐up. However, discontinuity of care is a recognized problem and appears to increase around the transition to adulthood. We performed a systematic review and meta‐analysis to estimate the proportion of adolescents and emerging adults with congenital heart disease discontinuing cardiac follow‐up. In pooled data, we investigated regional differences, disparities by disease complexity, and the impact of transition programs on the discontinuity of care. Methods and Results Searches were performed in PubMed, Embase, Cinahl, and Web of Science. We identified 17 studies, which enrolled 6847 patients. A random effects meta‐analysis of single proportions was performed according to the DerSimonian‐Laird method. Moderator effects were computed to explore sources for heterogeneity. Discontinuity proportions ranged from 3.6% to 62.7%, with a pooled estimated proportion of 26.1% (95% CI, 19.2%–34.6%). A trend toward more discontinuity was observed in simple heart defects (33.7%; 95% CI, 15.6%–58.3%), compared with moderate (25.7%; 95% CI, 15.2%–40.1%) or complex congenital heart disease (22.3%; 95% CI, 16.5%–29.4%) ( P =0.2372). Studies from the United States (34.0%; 95% CI, 24.3%–45.4%), Canada (25.7%; 95% CI, 17.0%–36.7%), and Europe (6.5%; 95% CI, 5.3%–7.9%) differed significantly ( P =0.0004). Transition programs were shown to have the potential to reduce discontinuity of care (12.7%; 95% CI, 2.8%–42.3%) compared with usual care (36.2%; 95% CI, 22.8%–52.2%) ( P =0.1119). Conclusions This meta‐analysis showed that there is a high proportion of discontinuity of care in young people with congenital heart disease. The highest discontinuity proportions were observed in studies from the United States and in patients with simple heart defects. It is suggested that transition programs have a protective effect. Registration URL: www.crd.york.ac.uk/prospero . Unique identifier: CRD42020182413.

scholarly journals Cyanotic congenital heart disease: Impact on growth and endocrine functions.

2021 ◽  
Vol 28 (10) ◽  
pp. 1477-1483
Author(s):  
Muhammad Sohail Arshad ◽  
Waqas Imran Khan ◽  
Arif Zulqarnain ◽  
Hafiz Muhammad Anwar-ul-Haq ◽  
Mudasser Adnan
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Stenosis ◽  
Tertiary Care ◽  
Cyanotic Congenital Heart Disease ◽  
P Value ◽  
Common Diagnosis ◽  
Significant Difference ◽  
The Impact

Objective: To find out the impact of Cyanotic Congenital Heart Disease (CCHD) on growth and endocrine functions at a tertiary care child healthcare facility of South Punjab. Study Design: Case Control study. Setting: Department of Pediatric Cardiology and Department of Pediatric Endocrinology, Institute of Child’s Health (ICH), Multan, Pakistan. Period: December 2018 to March 2020. Material & Methods: During the study period, a total of 53 cases of Echocardiography confirmed CCHD were registered. Along with 53 cases, 50 controls during the study period were also enrolled. Height, weight, body mass index (BMI) along with hormonal and biochemical laboratory investigations were done. Results: There was no significant difference between gender and age among cases and controls (p value>0.05). Most common diagnosis of CCHD among cases, 24 (45.3%) were Tetralogy of Fallot (TOF) followed by 9 (17.0%) transposition of the great arteries (TGA) with Ventricular Septal Defect (VSD) with Pulmonary Stenosis (PS). Mean weight of CCHD cases was significantly lower in comparison to controls (21.19+6.24 kg vs. 26.48+8.1 kg, p value=0.0003). Blood glucose was significantly lower among cases in comparison to controls (77.58+14.58 mg/dl vs. 87.25+11.82 mg/dl, p value=0.0004). No significant difference was found in between cases and controls in terms of various hormone levels studied (p value>0.05) except Insulin-like Growth Factor-1 (IGF-1) levels (p value<0.0001). Conclusion: Children with cyanotic congenital heart disease seem to have negative effects on nutrition and growth. Change in pituitary-adrenal axis is suspected while pituitary-thyroid axis seemed to be working fine among CCHD cases. Serum glucose and IGF-1 levels were significantly decreased among CCHD cases.

scholarly journals Oximetry and neonatal examination for the detection of critical congenital heart disease: a systematic review and meta-analysis

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 242 ◽  
Author(s):  
Hernán Camilo Aranguren Bello ◽  
Dario Londoño Trujillo ◽  
Gloria Amparo Troncoso Moreno ◽  
Maria Teresa Dominguez Torres ◽  
Alejandra Taborda Restrepo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Physical Examination ◽  
Congenital Heart ◽  
Heart Defects ◽  
Meta Analysis ◽  
Review Of The Literature ◽  
Critical Congenital Heart Disease ◽  
Operational Characteristics

Background: Undiagnosed congenital heart disease in the prenatal stage can occur in approximately 5 to 15 out of 1000 live births; more than a quarter of these will have critical congenital heart disease (CCHD). Late postnatal diagnosis is associated with a worse prognosis during childhood, and there is evidence that a standardized measurement of oxygen saturation in the newborn by cutaneous oximetry is an optimal method for the detection of CCHD. We conducted a systematic review of the literature and meta-analysis comparing the operational characteristics of oximetry and physical examination for the detection of CCHD. Methods: A systematic review of the literature was conducted on the following databases including published studies between 2002 and 2017, with no language restrictions: Pubmed, Science Direct, Ovid, Scopus and EBSCO, with the following keywords: oximetry screening, critical congenital heart disease, newborn OR oximetry screening heart defects, congenital, specificity, sensitivity, physical examination. Results: A total of 419 articles were found, from which 69 were selected based on their titles and abstracts. After quality assessment, five articles were chosen for extraction of data according to inclusion criteria; data were analyzed on a sample of 404,735 newborns in the five included studies. The following values were found, corresponding to the operational characteristics of oximetry in combination with the physical examination: sensitivity: 0.92 (CI 95%, 0.87-0.95), specificity: 0.98 (CI 95%, 0.89-1.00), for physical examination alone sensitivity: 0.53 (CI 95%, 0.28-0.78) and specificity: 0.99 (CI 95%, 0.97-1.00). Conclusions: Evidence found in different articles suggests that pulse oximetry in addition to neonatal physical examination presents optimal operative characteristics that make it an adequate screening test for detection of CCHD in newborns, above all this is essential in low and middle-income settings where technology medical support is not entirely available.

scholarly journals Developmental outcomes after early surgery for complex congenital heart disease: a systematic review and meta‐analysis

2020 ◽  
Vol 63 (1) ◽  
pp. 29-46 ◽  
Author(s):  
Darlene Huisenga ◽  
Sacha La Bastide‐Van Gemert ◽  
Andrew Van Bergen ◽  
Jane Sweeney ◽  
Mijna Hadders‐Algra
Keyword(s):  
Systematic Review ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Meta Analysis ◽  
Developmental Outcomes ◽  
Early Surgery ◽  
Complex Congenital Heart Disease

scholarly journals Newborn Screening Pulse Oximetry to Detect Critical Congenital Heart Disease: A Follow-Up Survey of Current Practice at Army, Navy and Air Force Hospitals

2019 ◽  
Vol 184 (11-12) ◽  
pp. 826-831
Author(s):  
David L Robinson ◽  
Mark S Craig ◽  
Ronald S Wells ◽  
Kirk N Liesemer ◽  
Matthew A Studer
Keyword(s):  
Congenital Heart Disease ◽  
Quality Assurance ◽  
Heart Disease ◽  
Pulse Oximetry ◽  
Air Force ◽  
Congenital Heart ◽  
The United States ◽  
P Value ◽  
Critical Congenital Heart Disease

Abstract Introduction The purpose of this study was to assess the evolution of newborn pulse oximetry screening (+POx) among Army, Air Force, and Naval military hospitals (MH), including prevalence, protocol use, quality assurance processes, access to echocardiography, and use of telemedicine. This is a follow-up from a prior study published in 2011. Materials and Methods An Internet-based questionnaire was forwarded to the chief pediatrician at MH worldwide which support newborn deliveries. Descriptive data were reported using percentages. Grouped responses, as applicable, were further compared using the chi-square test. A p-value &lt; 0.05 was considered statistically significant. Results Seventy-eight percent (36/46) of MH supporting deliveries worldwide responded to the survey (17 Army hospitals, 11 Navy Hospitals, 8 Air Force hospitals). All responding hospitals utilize +POx, of which 94% endorsed protocol compliance with the American Academy of Pediatrics guidelines. Nine (25%) hospitals were located outside of the United States. Delivery volumes (infants per month) range between 1–49 (36%), 50–99 (28%), 100–199 (19%), and 200–300 (17%). Eleven hospitals reported regular review of +POx data, with most reviewing them monthly. Four MH share findings with state institutions. Ten hospitals either have a staff pediatric cardiologist or use tele-echocardiography for on-site evaluations. Ten hospitals are located greater than 60 miles from the nearest center with echocardiography capabilities. Of the five hospitals using tele-echocardiography, four confirmed critical congenital heart disease (CCHD) using this practice, and all five reported averting transfer of an infant using this technology. Of the 22 hospitals lacking the ability to obtain on-site echocardiography, 12 (55%) are interested in implementing a tele-echocardiography protocol. Conclusions All responding MH use +POx, representing significant increase from the 30% of MH reporting use of +POx seven years ago. The majority of MH follow AAP +POx guidelines, and though most have providers review results prior to discharge, only one-third report periodic chart review for quality assurance. Most MH transfer infants with positive +POx results for evaluation due to a lack of on-site echocardiography. Tele-echocardiography was reported as a potential solution to diagnose or rule out CCHD. Over half of remaining hospitals without cardiologists are interested in using this technology to evaluate stable infants with positive CCHD screening.

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