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Critical congenital heart disease

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https://www.readbyqxmd.com/read/29145300/cost-effectiveness-analysis-of-neonatal-screening-of-critical-congenital-heart-defects-in-china
#1
Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori
BACKGROUND: Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study is to provide information for future clinical and health policy decisions by assessing the cost-effectiveness of CCHD screening in China. METHODS AND FINDINGS: We developed a cohort model to evaluate the cost-effectiveness of screening all Chinese newborns annually using 3 possible screening options compared to no intervention: pulse oximetry alone, clinical assessment alone, and pulse oximetry as an adjunct to clinical assessment...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#2
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline de Medeiros Leal, Elvira D Rodrigues Pereira Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29128512/the-role-of-%C3%AE-ii-spectrin-in-cardiac-health-and-disease
#3
REVIEW
Mohamed H Derbala, Aaron S Guo, Peter J Mohler, Sakima A Smith
Spectrins are large, flexible proteins comprised of α-β dimers that are connected head-to-head to form the canonical heterotetrameric spectrin structure. Spectrins were initially believed to be exclusively found in human erythrocytic membrane and are highly conserved among different species. βII spectrin, the most common isoform of non-erythrocytic spectrin, is found in all nucleated cells and forms larger macromolecular complexes with ankyrins and actins. Not only is βII spectrin a central cytoskeletal scaffolding protein involved in preserving cell structure but it has also emerged as a critical protein required for distinct physiologic functions such as posttranslational localization of crucial membrane proteins and signal transduction...
November 8, 2017: Life Sciences
https://www.readbyqxmd.com/read/29119450/surgical-treatment-for-adult-congenital-heart-disease-consideration-for-indications-and-procedures
#4
REVIEW
Kozo Matsuo, Masashi Kabasawa, Soichi Asano, Shigeru Tateno, Yasutaka Kawasoe, Yoshitomo Okajima, Naoki Hayashida, Hirokazu Murayama
The number of the adult patients with congenital heart diseases (ACHD) continues to grow owing to improvement of surgical results and medical management. Corrective surgery for complex CHD does not always mean complete cure. It is not rare that the patients will visit the cardiology institutes because of secondary lesions due to residua or sequela in adults. Some patients with CHD remain unrepairable with different degree of heart failure and pulmonary arterial hypertension. Association of arrhythmias is common in ACHD patients and sometimes critical...
November 8, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29117038/development-and-validation-of-extracorporeal-membrane-oxygenation-mortality-risk-models-for-congenital-diaphragmatic-hernia
#5
Yigit S Guner, Danh V Nguyen, Lishi Zhang, Yanjun Chen, Matthew T Harting, Peter Rycus, Ryan Barbaro, Matteo Di Nardo, Thomas V Brogan, John P Cleary, Peter T Yu
The purpose of our study was to develop and validate extracorporeal membrane oxygenation (ECMO)-specific mortality risk models for congenital diaphragmatic hernia (CDH). We utilized the data from the Extracorporeal Life Support Organization Registry (2000-2015). Prediction models were developed using multivariable logistic regression. We identified 4,374 neonates with CDH with an overall mortality of 52%. Predictive discrimination (C statistic) for pre-ECMO mortality model was C = 0.65 (95% confidence interval, 0...
November 7, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/29101065/targeted-sequencing-identifies-novel-gata6-variants-in-a-large-cohort-of-patients-with-conotruncal-heart-defects
#6
Erge Zhang, Nanchao Hong, Sun Chen, Qihua Fu, Fen Li, Yu Yu, Kun Sun
Studies have highlighted the critical role of GATA6 in conotruncal heart defects (CTDs). Nevertheless, relationship between GATA6 variants and different CTDs remains largely unknown. Here GATA6 gene was screened in 542 patients with CTDs using targeted sequencing. Variant frequency was 2.0% (11/542). Three novel variants: c.86C>A (p.A29E), c.296T>A (p.V99D) and c.1254delC (p.S418fs) were identified in patients with transposition of the great arteries, double outlet right ventricle and persistent truncus arteriosus, respectively, but in none of the 400 controls...
October 31, 2017: Gene
https://www.readbyqxmd.com/read/29090255/anesthetic-considerations-for-a-pediatric-patient-with-wolf-hirschhorn-syndrome-a-case-report
#7
Masanori Tsukamoto, Hitoshi Yamanaka, Takeshi Yokoyama
Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management...
September 2017: J Dent Anesth Pain Med
https://www.readbyqxmd.com/read/29090252/anesthetic-management-of-a-patient-with-branchio-oto-renal-syndrome
#8
Masanori Tsukamoto, Takeshi Yokoyama
Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient with BOR. Airway management, renal function, and hemodynamic changes can be of critical concern during anesthetic management...
September 2017: J Dent Anesth Pain Med
https://www.readbyqxmd.com/read/29048407/pulse-oximetry-screening-for-critical-congenital-heart-diseases-at-two-different-hospital-settings-in-thailand
#9
P Nuntnarumit, P Thanomsingh, A Limrungsikul, S Wanitkun, T Sirisopikun, P Ausayapao
OBJECTIVE: To evaluate the predictive abilities of pulse oximetry screening (POS) for critical congenital heart disease (CRIT.CHD) at two different hospital settings in Thailand. STUDY DESIGN: The study was conducted in healthy newborns at Ramathibodi Hospital (RH), a university hospital and Maharat Nakhon Ratchasima Hospital (MH), a regional hospital. Positive POS was defined as oxygen saturation (SpO2) <95% or difference between pre- and postductal SpO2 >3%...
October 19, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29046480/epigenetic-mechanisms-underlying-maternal-diabetes-associated-risk-of-congenital-heart-disease
#10
Madhumita Basu, Jun-Yi Zhu, Stephanie LaHaye, Uddalak Majumdar, Kai Jiao, Zhe Han, Vidu Garg
Birth defects are the leading cause of infant mortality, and they are caused by a combination of genetic and environmental factors. Environmental risk factors may contribute to birth defects in genetically susceptible infants by altering critical molecular pathways during embryogenesis, but experimental evidence for gene-environment interactions is limited. Fetal hyperglycemia associated with maternal diabetes results in a 5-fold increased risk of congenital heart disease (CHD), but the molecular basis for this correlation is unknown...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29034164/aberrant-brain-functional-connectivity-in-newborns-with-congenital-heart-disease-before-cardiac-surgery
#11
Josepheen De Asis-Cruz, Mary T Donofrio, Gilbert Vezina, Catherine Limperopoulos
Newborns with congenital heart disease (CHD) requiring open heart surgery are at increased risk for neurodevelopmental disabilities. Recent quantitative MRI studies have reported disrupted growth, microstructure, and metabolism in fetuses and newborns with complex CHD. To date, no study has examined whether functional brain connectivity is altered in this high-risk population after birth, before surgery. Our objective was to compare whole-brain functional connectivity of resting state networks in healthy, term newborns (n = 82) and in term neonates with CHD before surgery (n = 30) using graph theory and network-based statistics...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29032483/regulation-of-cardiac-voltage-gated-sodium-channel-by-kinases-roles-of-protein-kinases-a-and-c
#12
Ademuyiwa S Aromolaran, Mohamed Chahine, Mohamed Boutjdir
In the heart, voltage-gated sodium (Nav) channel (Nav1.5) is defined by its pore-forming α-subunit and its auxiliary β-subunits, both of which are important for its critical contribution to the initiation and maintenance of the cardiac action potential (AP) that underlie normal heart rhythm. The physiological relevance of Nav1.5 is further marked by the fact that inherited or congenital mutations in Nav1.5 channel gene SCN5A lead to altered functional expression (including expression, trafficking, and current density), and are generally manifested in the form of distinct cardiac arrhythmic events, epilepsy, neuropathic pain, migraine, and neuromuscular disorders...
October 15, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29027708/advancing-prenatal-detection-of-congenital-heart-disease-a-novel-screening-protocol-improves-early-diagnosis-of-complex-congenital-heart-disease
#13
Karen M Letourneau, David Horne, Reeni N Soni, Keith R McDonald, Fern C Karlicki, Randy R Fransoo
OBJECTIVES: Prenatal diagnosis of complex congenital heart disease (CHD) during routine obstetric ultrasound (US) examinations improves postnatal outcomes, but sensitivity is low (<40%). Our objective was to improve our prenatal detection of complex CHD with implementation of a specific screening protocol. METHODS: From January 2003 to December 2013, 506 consecutive confirmed cases of complex CHD in the province of Manitoba, Canada, were analyzed to compare the sensitivity and positive predictive value of prenatal US detection of complex CHD before and after the introduction of a novel prenatal screening protocol...
October 13, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28965736/second-annual-pediatric-interagency-registry-for-mechanical-circulatory-support-pedimacs-report-pre-implant-characteristics-and-outcomes
#14
Elizabeth D Blume, Christina VanderPluym, Angela Lorts, J Timothy Baldwin, Joseph W Rossano, David L S Morales, Ryan S Cantor, Marissa A Miller, James D St Louis, Devin Koehl, David L Sutcliffe, Pirooz Eghtesady, James K Kirklin, David N Rosenthal
BACKGROUND: Expanded use of pediatric ventricular assist devices (VADs) has decreased mortality in children awaiting heart transplantation. Pediatric Interagency Registry for Mechanical Circulatory Support (Pedimacs), a National Heart, Lung, and Blood Institute-sponsored North American database, provides a platform to understand this emerging population. METHODS: Between September 2012 and September 2016, patients aged younger than 19 years who underwent VAD implantation were enrolled in Pedimacs...
July 4, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28958591/experience-of-fathers-of-neonates-with-congenital-heart-disease-in-south-korea
#15
Jeonghyun Kim, Chiyoung Cha
BACKGROUND: Although the 1st month is critical for establishing fatherhood, rare studies have focused on this topic. OBJECTIVE: To understand experiences of fathers of neonates with congenital heart disease. METHODS: Descriptive phenomenology study. RESULTS: The fathers were initially unaware of the seriousness of their neonates' condition. After they learned about it, they felt despair. They experienced guilt regarding their neonates' diagnosis and tried to take full responsibility for the situation to save their family from crisis...
November 2017: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/28945738/formation-of-a-tbx20-casz1-protein-complex-is-protective-against-dilated-cardiomyopathy-and-critical-for-cardiac-homeostasis
#16
Leslie Kennedy, Erin Kaltenbrun, Todd M Greco, Brenda Temple, Laura E Herring, Ileana M Cristea, Frank L Conlon
By the age of 40, one in five adults without symptoms of cardiovascular disease are at risk for developing congestive heart failure. Within this population, dilated cardiomyopathy (DCM) remains one of the leading causes of disease and death, with nearly half of cases genetically determined. Though genetic and high throughput sequencing-based approaches have identified sporadic and inherited mutations in a multitude of genes implicated in cardiomyopathy, how combinations of asymptomatic mutations lead to cardiac failure remains a mystery...
September 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28939700/pulse-oximetry-and-auscultation-for-congenital-heart-disease-detection
#17
MULTICENTER STUDY
Xiao-Jing Hu, Xiao-Jing Ma, Qu-Ming Zhao, Wei-Li Yan, Xiao-Ling Ge, Bing Jia, Fang Liu, Lin Wu, Ming Ye, Xue-Cun Liang, Jing Zhang, Yan Gao, Xiao-Wen Zhai, Guo-Ying Huang
OBJECTIVES: Pulse oximetry (POX) has been confirmed as a specific screening modality for critical congenital heart disease (CCHD), with moderate sensitivity. However, POX is not able to detect most serious and critical cardiac lesions (major congenital heart disease [CHD]) without hypoxemia. In this study, we investigated the accuracy and feasibility of the addition of cardiac auscultation to POX as a screening method for asymptomatic major CHD. METHODS: A multicenter prospective observational screening study was conducted at 15 hospitals in Shanghai between July 1, 2012, and December 31, 2014...
October 2017: Pediatrics
https://www.readbyqxmd.com/read/28918207/the-association-between-cardiac-physiology-acquired-brain-injury-and-postnatal-brain-growth-in-critical-congenital-heart-disease
#18
Shabnam Peyvandi, Hosung Kim, Joanne Lau, A James Barkovich, Andrew Campbell, Steven Miller, Duan Xu, Patrick McQuillen
OBJECTIVE: To assess the trajectory of perioperative brain growth in relationship to cardiac diagnosis and acquired brain injuries. METHODS: This was a cohort study of term neonates with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA). Subjects underwent magnetic resonance imaging of the brain pre- and postoperatively to determine the severity of brain injury and total and regional brain volumes by the use of automated morphometry...
August 24, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28917066/effectiveness-of-the-critical-congenital-heart-disease-screening-program-for-early-diagnosis-of-cardiac-abnormalities-in-newborn-infants
#19
Abdulmajid M Almawazini, Hamdi K Hanafi, Hasan A Madkhali, Noura B Majrashi
To evaluate the effectiveness of critical congenital heart disease (CCHD) screening program for early diagnosis of cardiac anomalies in newborn infants.  Methods: This is a hospital-based prospective cross-sectional study conducted in the Pediatric and Neonatology Department, King Fahad Hospital at  Albaha, Saudi Arabia, between February 2016 and February 2017. Results: We screened 2961 (95.4%) of 3103 patients in a nursery unit; 142 (4.6%) patients were not screened. The test was positive in 114 (3.9%) patients and negative in 2847 (96...
October 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28912723/increased-hemodynamic-load-in-early-embryonic-stages-alters-myofibril-and-mitochondrial-organization-in-the-myocardium
#20
Madeline Midgett, Claudia S López, Larry David, Alina Maloyan, Sandra Rugonyi
Normal blood flow is essential for proper heart formation during embryonic development, as abnormal hemodynamic load (blood pressure and shear stress) results in cardiac defects seen in congenital heart disease (CHD). However, the detrimental remodeling processes that relate altered blood flow to cardiac malformation and defects remain unclear. Heart development is a finely orchestrated process with rapid transformations that occur at the tissue, cell, and subcellular levels. Myocardial cells play an essential role in cardiac tissue maturation by aligning in the direction of stretch and increasing the number of contractile units as hemodynamic load increases throughout development...
2017: Frontiers in Physiology
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